glycogene ncbi_id genesymbol go_terms go_ids go_pmid_ids nando nando_id nando_category nando_category_en nando_label nando_label_en mondo_id nando2mondo_match http://glycosmos.org/glycogene/51752 51752 ERAP1 metalloexopeptidase activity | peptide binding | interleukin-6 receptor binding | protein binding | metalloaminopeptidase activity | interleukin-1, type II receptor binding | endopeptidase activity | aminopeptidase activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0008235 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0005138 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070006 | http://purl.obolibrary.org/obo/GO_0005151 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0004177 | http://purl.obolibrary.org/obo/GO_0008270 10220586 | | 12748171 | 15908954,18445477 | | 15691326 | 12436109,12436110,17088086 | 10220586,12748171 | 10220586 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/337867 337867 UBAC2 protein binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 22119785,25416956,28514442,31073040,32814053 | http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/51763 51763 INPP5K phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | vasopressin receptor activity | inositol-1,4,5-trisphosphate 5-phosphatase activity | inositol bisphosphate phosphatase activity | phosphatidylinositol trisphosphate phosphatase activity | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | lipid phosphatase activity | protein binding | phosphatidylinositol phosphate 5-phosphatase activity | inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | inositol trisphosphate phosphatase activity http://purl.obolibrary.org/obo/GO_0004439 | http://purl.obolibrary.org/obo/GO_0005000 | http://purl.obolibrary.org/obo/GO_0052658 | http://purl.obolibrary.org/obo/GO_0016312 | http://purl.obolibrary.org/obo/GO_0034594 | http://purl.obolibrary.org/obo/GO_0034485 | http://purl.obolibrary.org/obo/GO_0042577 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034595 | http://purl.obolibrary.org/obo/GO_0052659 | http://purl.obolibrary.org/obo/GO_0046030 28190456 | | | 10753883,18573875 | 12556481 | 21712384 | 10753883 | 16002321,16189514,21712384,25416956,26940976,29892012,32296183,32814053,33961781 | 18774950 | | 10753883,18573875 http://nanbyodata.jp/ontology/NANDO_1200485 NANDO:1200485 指定難病 Designated intractable disease マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome MONDO:0009567 exactMatch http://glycosmos.org/glycogene/3561 3561 IL2RG interleukin-15 receptor activity | interleukin-2 binding | coreceptor activity | cytokine binding | cytokine receptor activity | protein binding | interleukin-4 receptor activity | interleukin-2 receptor activity | interleukin-7 receptor activity http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0019976 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004913 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004917 15123770 | | 18829468,7568005,8026467,8128231,8624802 | | | 12504082,25416956,28514442,31515488,32296183,33961781,8266077 | 8266078 | 8266076 | 8266077 http://nanbyodata.jp/ontology/NANDO_1200321 NANDO:1200321 指定難病 Designated intractable disease X連鎖重症複合免疫不全症 X-linked severe combined immunodeficiency MONDO:0010315 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_1200286 NANDO:1200286 指定難病 Designated intractable disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_1200288 NANDO:1200288 指定難病 Designated intractable disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/58494 58494 JAM2 protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 11590146,11823489,21982860 | 12070135 http://nanbyodata.jp/ontology/NANDO_1200207 NANDO:1200207 指定難病 Designated intractable disease 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 exactMatch http://glycosmos.org/glycogene/128674 128674 PROKR2 protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | | http://nanbyodata.jp/ontology/NANDO_1200560 NANDO:1200560 指定難病 Designated intractable disease 中隔視神経形成異常症／ドモルシア症候群 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 closeMatch http://glycosmos.org/glycogene/1230 1230 CCR1 C-C chemokine receptor activity | C-C chemokine binding | chemokine receptor activity | phosphatidylinositol phospholipase C activity | protein binding | chemokine (C-C motif) ligand 7 binding | chemokine (C-C motif) ligand 5 binding http://purl.obolibrary.org/obo/GO_0016493 | http://purl.obolibrary.org/obo/GO_0019957 | http://purl.obolibrary.org/obo/GO_0004950 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035717 | http://purl.obolibrary.org/obo/GO_0071791 10734056 | 10660125,15764707,7545673,8699119 | 10660125 | 10734056 | 15001559,15474493,28381538,32296183,33961781,8699119 | 10660125,7545673 | 10660125,10734056,7545673,8699119 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/10133 10133 OPTN identical protein binding | protein binding | zinc ion binding | protein-macromolecule adaptor activity | metal ion binding | polyubiquitin modification-dependent protein binding | K63-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0070530 23414517,24983867,25416956,25910212,26871637,32296183 | 15837803,16189514,17500595,17646400,18307994,19805065,20174559,20195357,20388642,21516116,21617041,21903422,21988832,22854040,23275563,23414517,23956131,24136289,24705354,25026213,25416956,25803835,25910212,26871637,27086836,29892012,30561431,31515488,32296183,32707033,32814053,33961781,34524948 | | 25803835 | | 21617041 | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/1130 1130 LYST protein binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 11984006 | http://nanbyodata.jp/ontology/NANDO_1200350 NANDO:1200350 指定難病 Designated intractable disease チェディアック・東症候群 Chédiak-Higashi syndrome MONDO:0008963 exactMatch http://glycosmos.org/glycogene/1303 1303 COL12A1 extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0030020 1427837,20551380,23979707,25037231,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1303 1303 COL12A1 extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0030020 1427837,20551380,23979707,25037231,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1200220 NANDO:1200220 指定難病 Designated intractable disease ベスレムミオパチー Bethlem Myopathy MONDO:0008029 exactMatch http://glycosmos.org/glycogene/1291 1291 COL6A1 protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 33961781 | 8900172 | 20551380,25037231,27559042,28327460,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0009681 closeMatch http://glycosmos.org/glycogene/1291 1291 COL6A1 protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 33961781 | 8900172 | 20551380,25037231,27559042,28327460,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1291 1291 COL6A1 protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 33961781 | 8900172 | 20551380,25037231,27559042,28327460,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200220 NANDO:1200220 指定難病 Designated intractable disease ベスレムミオパチー Bethlem Myopathy MONDO:0008029 exactMatch http://glycosmos.org/glycogene/1292 1292 COL6A2 protein binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 12812986 | 20551380,25037231,27559042,28327460,28344315,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0009681 closeMatch http://glycosmos.org/glycogene/1292 1292 COL6A2 protein binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 12812986 | 20551380,25037231,27559042,28327460,28344315,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1292 1292 COL6A2 protein binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 12812986 | 20551380,25037231,27559042,28327460,28344315,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_1200220 NANDO:1200220 指定難病 Designated intractable disease ベスレムミオパチー Bethlem Myopathy MONDO:0008029 exactMatch http://glycosmos.org/glycogene/1293 1293 COL6A3 serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020 | 20551380,25037231,27559042,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0009681 closeMatch http://glycosmos.org/glycogene/1293 1293 COL6A3 serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020 | 20551380,25037231,27559042,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1200215 NANDO:1200215 指定難病 Designated intractable disease ウルリッヒ病 Ullrich disease MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1293 1293 COL6A3 serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020 | 20551380,25037231,27559042,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1200220 NANDO:1200220 指定難病 Designated intractable disease ベスレムミオパチー Bethlem Myopathy MONDO:0008029 exactMatch http://glycosmos.org/glycogene/1294 1294 COL7A1 serine-type endopeptidase inhibitor activity | protein binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | 19269366 | 25037231,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_1200238 NANDO:1200238 指定難病 Designated intractable disease 劣性栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa MONDO:0009179 exactMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1584 1584 CYP11B1 corticosterone 18-monooxygenase activity | iron ion binding | steroid 11-beta-monooxygenase activity | heme binding http://purl.obolibrary.org/obo/GO_0047783 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0004507 | http://purl.obolibrary.org/obo/GO_0020037 | | 2022736,2256920,8506298 | 2256920 http://nanbyodata.jp/ontology/NANDO_1200400 NANDO:1200400 指定難病 Designated intractable disease 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency MONDO:0008729 exactMatch http://glycosmos.org/glycogene/1586 1586 CYP17A1 iron ion binding | estrogen 16-alpha-hydroxylase activity | steroid 17-alpha-monooxygenase activity | heme binding | oxygen binding | lyase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0101020 | http://purl.obolibrary.org/obo/GO_0004508 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0016829 | | 22170710,22266943,24140098,36640554 | 22266943 | 2808364 | http://nanbyodata.jp/ontology/NANDO_1200401 NANDO:1200401 指定難病 Designated intractable disease 17α−水酸化酵素欠損症 17-α-Hydroxylase deficiency MONDO:0008730 exactMatch http://glycosmos.org/glycogene/1589 1589 CYP21A2 steroid hydroxylase activity | iron ion binding | heme binding | progesterone 21-hydroxylase activity | 17-hydroxyprogesterone 21-hydroxylase activity | steroid binding | steroid 21-monooxygenase activity http://purl.obolibrary.org/obo/GO_0008395 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0106309 | http://purl.obolibrary.org/obo/GO_0103069 | http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0004509 16984992 | | 25855791 | 25855791 | 25855791 | | http://nanbyodata.jp/ontology/NANDO_1200399 NANDO:1200399 指定難病 Designated intractable disease 21-水酸化酵素欠損症 21-Hydroxylase deficiency MONDO:0008728 exactMatch http://glycosmos.org/glycogene/1636 1636 ACE metalloendopeptidase activity | bradykinin receptor binding | zinc ion binding | metallopeptidase activity | heterocyclic compound binding | tripeptidyl-peptidase activity | exopeptidase activity | protein binding | peptidyl-dipeptidase activity | endopeptidase activity | actin binding | calmodulin binding | peptidase activity | mitogen-activated protein kinase binding | chloride ion binding | metal ion binding | metallodipeptidase activity | mitogen-activated protein kinase kinase binding | carboxypeptidase activity | metallocarboxypeptidase activity http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0031711 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_1901363 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0008238 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008241 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0051019 | http://purl.obolibrary.org/obo/GO_0031404 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070573 | http://purl.obolibrary.org/obo/GO_0031434 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0004181 6208535,7683654 | 17077303 | 12540854 | 1320019,1668266,17077303,2554286,2849100 | | 2983326 | 2983326 | 16186248,22523556 | 11303049,11432860,1320019,15283675,1668266,17077303,1851160,19773553,20826823,2554286,26403559,2849100,4322742,6055465,6208535,6270633,656131,7683654,7876104,8257427 | 15283675,18495113 | 16186248 | | 11604391,16154999,18077343 | 14615289 | 11432860,12540854 | | 7961923 | 14615289 | | http://nanbyodata.jp/ontology/NANDO_1200366 NANDO:1200366 指定難病 Designated intractable disease IgＡ腎症 IgA nephropathy MONDO:0005342 exactMatch http://glycosmos.org/glycogene/1639 1639 DCTN1 tau protein binding | protein kinase binding | tubulin binding | microtubule binding | protein binding http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005515 28386764 | 17139249 | 23874158 | 16505168,23874158,26972003 | 12857853,15107855,17139249,17532294,17828275,17828277,17932487,18000879,18615096,18922795,19619496,19935774,20133940,20679239,20719959,20978158,22159412,22261744,22777741,22797915,23414759,23524952,23574715,23874158,24867236,24997520,25189619,26269332,26496610,26638075,26972003,27173435,28394342,32814053,33961781,35271311,9361024,9722614 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/1639 1639 DCTN1 tau protein binding | protein kinase binding | tubulin binding | microtubule binding | protein binding http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005515 28386764 | 17139249 | 23874158 | 16505168,23874158,26972003 | 12857853,15107855,17139249,17532294,17828275,17828277,17932487,18000879,18615096,18922795,19619496,19935774,20133940,20679239,20719959,20978158,22159412,22261744,22777741,22797915,23414759,23524952,23574715,23874158,24867236,24997520,25189619,26269332,26496610,26638075,26972003,27173435,28394342,32814053,33961781,35271311,9361024,9722614 http://nanbyodata.jp/ontology/NANDO_1200547 NANDO:1200547 指定難病 Designated intractable disease ペリー病 Perry disease MONDO:0008201 exactMatch http://glycosmos.org/glycogene/1773 1773 DNASE1 protein binding | deoxyribonuclease I activity | DNA binding | actin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004530 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003779 12849983 | | | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1991 1991 ELANE protein binding | transcription corepressor activity | serine-type endopeptidase activity | heparin binding | peptidase activity | endopeptidase activity | cytokine binding | protease binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0002020 12114510,12223522,14688365,19506020,21979170,25211214,33748632 | 19506020 | 29539421,36899106 | 11907569 | 11907569,20421939 | 12887060,6980881 | 12393522 | 6980881 http://nanbyodata.jp/ontology/NANDO_1200354 NANDO:1200354 指定難病 Designated intractable disease 周期性好中球減少症 Cyclic neutropenia MONDO:0008090 exactMatch http://glycosmos.org/glycogene/3654 3654 IRAK1 protein kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | histone H3T6 kinase activity | histone H3T11 kinase activity | protein kinase binding | heat shock protein binding | histone H2AS1 kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | histone H2BS36 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS14 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | identical protein binding | histone H4S1 kinase activity | protein binding | histone H3T3 kinase activity | protein homodimerization activity | histone H3T45 kinase activity | DNA-dependent protein kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H3S28 kinase activity | kinase activity | histone H3S57 kinase activity | protein heterodimerization activity | AMP-activated protein kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0005524 12054681 | | | | | 33238146 | | | 11397809,11960013 | | | | | | | 11397809 | | 10854325,11397809,11518704,12242293,12496252,12860405,12874243,12925853,16203735,16831874,16884718,17567694,19081057,19264966,21743479,21903422,22037600,26752465,28436939,29883609,33673546,33961781 | | 10383454 | | | | | | | 12054681 | | 10383454 | | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3663 3663 IRF5 sequence-specific DNA binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding | identical protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0120283 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000978 23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3663 3663 IRF5 sequence-specific DNA binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding | identical protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0120283 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000978 23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/3684 3684 ITGAM cargo receptor activity | heat shock protein binding | metal ion binding | complement component C3b binding | amyloid-beta binding | integrin binding | protein binding http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005515 | 12496435 | | | | 20199584 | 12208882,15004192,15194813,16246332,21193407,28939773,32296183,38730209 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/10891 10891 PPARGC1A ubiquitin protein ligase binding | lncRNA binding | DNA binding | RNA binding | nuclear receptor binding | transcription coactivator activity | sequence-specific DNA binding | transcription coregulator activity | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor binding | nuclear receptor coactivator activity | protein binding | chromatin DNA binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0030374 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 22064484 | | 10713165 | 12588810 | 18798693 | 16488887,16753578,19651776,21376232,27471003 | 23836911 | 14636573 | | 12588810 | | 12522104,15337744,17050673,18063693,18441008,19171140,19846556,19914244,32296183 | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/6729 6729 SRP54 endoplasmic reticulum signal peptide binding | 7S RNA binding | ATP hydrolysis activity | RNA binding | protein binding | GTP binding | ribonucleoprotein complex binding | GTPase activity | GDP binding http://purl.obolibrary.org/obo/GO_0030942 | http://purl.obolibrary.org/obo/GO_0008312 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0043021 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 9511762 | 18089836,9511762 | | 22658674 | 24965446,33053321 | 8622769 | 9511762 | 28972538,8247130 | 8622769 http://nanbyodata.jp/ontology/NANDO_1200356 NANDO:1200356 指定難病 Designated intractable disease シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome MONDO:0009833 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/50485 50485 SMARCAL1 ATP-dependent DNA/DNA annealing activity | helicase activity | hydrolase activity | protein binding | ATP binding | ATP-dependent activity, acting on DNA http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008094 18974355,22705370 | | | 19793862,19793863,24126761,24910198,24981860 | | http://nanbyodata.jp/ontology/NANDO_1200337 NANDO:1200337 指定難病 Designated intractable disease シムケ症候群 Schimke syndrome MONDO:0009458 exactMatch http://glycosmos.org/glycogene/23435 23435 TARDBP molecular condensate scaffold activity | identical protein binding | lipid binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | double-stranded DNA binding | DNA binding | mRNA 3'-UTR binding | pre-mRNA intronic binding | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0097157 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 27545621,28988034,29511089 | 19383787,21666678,22193716,23384725,26099433,26735904,29531287,31235914 | 26735904 | | 7745706 | 26735904 | 17481916 | | 15231747,16169070,18377426,20740007,21903422,23541532,24169621,24690380,25678563,26571498,26752685,27615052,28514442,29109149,29153328,29725819,32814053,35271311,37788672 | 11285240,22658674,22681889,25678563 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/11093 11093 ADAMTS13 protein binding | metallopeptidase activity | zinc ion binding | metalloendopeptidase activity | calcium ion binding | integrin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005178 12775718,16221672,18492805,25512528 | 11557746 | 11557746 | 12775718,18983500,31439947 | 11557746 | 11557746 http://nanbyodata.jp/ontology/NANDO_1200317 NANDO:1200317 指定難病 Designated intractable disease 先天性血栓性血小板減少性紫斑病 Congenital thrombotic thrombocytopenic purpura MONDO:0010122 exactMatch http://glycosmos.org/glycogene/23025 23025 UNC13A phospholipid binding | syntaxin-1 binding | calmodulin binding | calcium ion binding | zinc ion binding | diacylglycerol binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0019992 | | | | | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/25978 25978 CHMP2B protein binding | protein domain specific binding | cadherin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0045296 16730941,17683935,17928862,21044950,21975012,22046132,23051622,26496610 | 17928862 | 25468996 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/2043 2043 EPHA4 ephrin receptor binding | amyloid-beta binding | DH domain binding | macrophage colony-stimulating factor receptor activity | hepatocyte growth factor receptor activity | brain-derived neurotrophic factor receptor activity | PH domain binding | epidermal growth factor receptor activity | ATP binding | protein kinase activity | identical protein binding | stem cell factor receptor activity | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase binding | transmembrane-ephrin receptor activity | GPI-linked ephrin receptor activity | insulin receptor activity | platelet-derived growth factor beta-receptor activity | boss receptor activity | protein tyrosine kinase collagen receptor activity | protein tyrosine kinase activity | kinase activity | placental growth factor receptor activity | fibroblast growth factor receptor activity | protein binding | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0097161 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0042731 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | 26871627 | 12775584 | | | | 12775584 | | | 12775584 | | | | 24217950 | | | | | | | 31439799 | 24217950 | | | 12775584,19836338,23812375,28514442,33961781,35384245 | | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/2066 2066 ERBB4 boss receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | insulin-like growth factor receptor activity | epidermal growth factor receptor activity | GABA receptor binding | protein homodimerization activity | fibroblast growth factor receptor activity | platelet-derived growth factor beta-receptor activity | vascular endothelial growth factor receptor activity | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | protein tyrosine kinase activity | protein binding | macrophage colony-stimulating factor receptor activity | neuregulin receptor activity | protein tyrosine kinase collagen receptor activity | transmembrane-ephrin receptor activity | insulin receptor activity | placental growth factor receptor activity | epidermal growth factor receptor binding | transcription cis-regulatory region binding | ATP binding | transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0050811 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0038131 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005154 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004714 | | | | | | | 18334220 | | | | | | 18334220 | 10572067,10725395,11867753,15282549,15345710,16273093,16767099,17360433,18334649,19561640,20227043,20858735,21203579,22939624,24557338,25283809,28988771,30083275,35384245,36931259,9135143,9419975 | | 12466964,9275162 | | | | | 8617750 | 15534001 | | 18334220 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/2212 2212 FCGR2A IgG binding | protein binding | IgG receptor activity http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770 | 25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2213 2213 FCGR2B protein binding | amyloid-beta binding | protein-containing complex binding | IgG binding | IgG receptor activity | low-affinity IgG receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019772 10382761,11567028,17474147,24642916,32814053,8577729,9148918,9603468 | 23921129,26871627 | 23921129 | 2142460 | | 2142460 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2215 2215 FCGR3B IgG receptor activity | IgG binding | GPI anchor binding http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0034235 | | 1825220 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_1200560 NANDO:1200560 指定難病 Designated intractable disease 中隔視神経形成異常症／ドモルシア症候群 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 closeMatch http://glycosmos.org/glycogene/2517 2517 FUCA1 protein binding | alpha-L-fucosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004560 32296183 | 11698403,19666478 http://nanbyodata.jp/ontology/NANDO_1200130 NANDO:1200130 指定難病 Designated intractable disease フコシドーシス Fucosidosis MONDO:0009254 exactMatch http://glycosmos.org/glycogene/2521 2521 FUS transcription coactivator activity | metal ion binding | chromatin binding | identical protein binding | DNA binding | mRNA 3'-UTR binding | RNA binding | transcription coregulator activity | zinc ion binding | protein binding | molecular condensate scaffold activity http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140693 21909421 | | 25453086,27731383 | 18509338,23975937,29439243,29610493 | | | 22658674,22681889,27378374,29677513,38070499 | | | 16169070,18509338,18954305,20085233,21988832,22240165,22778397,23152885,23232809,23681068,23975937,26124092,27460707,27615052,27731383,30354839,32814053,34316702,35271311,9774382 | 26317470,26455390,29677513,38070499 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/2548 2548 GAA carbohydrate binding | alpha-glucosidase activity | alpha-1,4-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0004558 | 5264799 | 29061980,9505277 http://nanbyodata.jp/ontology/NANDO_1200138 NANDO:1200138 指定難病 Designated intractable disease ポンペ病 Pompe disease MONDO:0009290 closeMatch http://glycosmos.org/glycogene/23193 23193 GANAB protein binding | RNA binding | Glc2Man9GlcNAc2 oligosaccharide glucosidase activity | alpha-glucosidase activity | carbohydrate binding | glucan 1,3-alpha-glucosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0106407 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0033919 10929008 | 22658674 | | 28375157 | | 10929008 http://nanbyodata.jp/ontology/NANDO_1200368 NANDO:1200368 指定難病 Designated intractable disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/2670 2670 GFAP identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005178 25416956,25910212,32296183 | | 16189514,17500595,25416956,25910212,26871637,27229929,29892012,31515488,32296183,32814053,33961781,34819669 | | http://nanbyodata.jp/ontology/NANDO_1200554 NANDO:1200554 指定難病 Designated intractable disease アレキサンダー病 Alexander disease MONDO:0008752 exactMatch http://glycosmos.org/glycogene/2990 2990 GUSB carbohydrate binding | signaling receptor binding | beta-glucuronidase activity | protein domain specific binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004566 | http://purl.obolibrary.org/obo/GO_0019904 | 20028034 | | 20028034 http://nanbyodata.jp/ontology/NANDO_1200111 NANDO:1200111 指定難病 Designated intractable disease Sly病 Sly syndrome MONDO:0009662 exactMatch http://glycosmos.org/glycogene/4125 4125 MAN2B1 carbohydrate binding | alpha-mannosidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872 | | http://nanbyodata.jp/ontology/NANDO_1200126 NANDO:1200126 指定難病 Designated intractable disease α-マンノシドーシス Alpha-mannosidosis MONDO:0009561 exactMatch http://glycosmos.org/glycogene/4126 4126 MANBA mannose binding | beta-mannosidase activity http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0004567 | 30552791 http://nanbyodata.jp/ontology/NANDO_1200129 NANDO:1200129 指定難病 Designated intractable disease β-マンノシドーシス Beta-mannosidosis MONDO:0009562 exactMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/4210 4210 MEFV zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/4261 4261 CIITA AMP-activated protein kinase activity | protein-containing complex binding | histone H3S28 kinase activity | histone H2AXS139 kinase activity | protein serine kinase activity | histone H3S10 kinase activity | ATP binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS1 kinase activity | protein binding | 3-phosphoinositide-dependent protein kinase activity | DNA-dependent protein kinase activity | histone H2AS121 kinase activity | Rho-dependent protein serine/threonine kinase activity | DNA-binding transcription factor binding | histone H2BS14 kinase activity | histone H3T45 kinase activity | histone H2AT120 kinase activity | histone H2BS36 kinase activity | transcription coactivator activity | histone H3T3 kinase activity | DNA binding | ribosomal protein S6 kinase activity | histone H3T11 kinase activity | histone H4S1 kinase activity | transcription cis-regulatory region binding | histone H3S57 kinase activity | acyltransferase activity | histone H3T6 kinase activity | GTP binding http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005525 | 17493635 | | | | | | | | 10938133,16600381,17493635,21890893,23007646 | | | | | 9171108 | | | | | 7749984 | | 15771576 | | | | 19041327 | | | | http://nanbyodata.jp/ontology/NANDO_1200329 NANDO:1200329 指定難病 Designated intractable disease MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 exactMatch http://glycosmos.org/glycogene/4312 4312 MMP1 zinc ion binding | peptidase activity | serine-type endopeptidase activity | metalloendopeptidase activity | endopeptidase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0004175 | 23845380 | | 9920899 | 19022250 http://nanbyodata.jp/ontology/NANDO_1200238 NANDO:1200238 指定難病 Designated intractable disease 劣性栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa MONDO:0009179 exactMatch http://glycosmos.org/glycogene/4353 4353 MPO heparin binding | peroxidase activity | heme binding | protein binding | metal ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003682 11907569 | 10772654,11907569,24035742 | | 24355864,32814053,36417879 | | 2829220 http://nanbyodata.jp/ontology/NANDO_1200358 NANDO:1200358 指定難病 Designated intractable disease ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency MONDO:0009694 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_1200286 NANDO:1200286 指定難病 Designated intractable disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_1200288 NANDO:1200288 指定難病 Designated intractable disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/4683 4683 NBN protein serine/threonine kinase activator activity | DNA-binding transcription factor binding | phosphorylation-dependent protein binding | protein binding | chromatin-protein adaptor activity | histone binding | damaged DNA binding http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140463 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003684 16622404 | 11486038 | 18411307,18582474,18583988,18678890,19804756,24534091,27814491,30787182 | 12419185,12470659,12607005,15916964,16377563,17500065,17612497,18001824,18001825,18583988,18678890,19609304,19683501,19759395,19804756,20224574,21108945,22078559,22157895,22565321,24534091,24651726,24981860,25064736,25558984,25895060,26869104,27568553,29656893,9590181 | 18411307,18583988,19804756,24534091,27814491,27889449,28216226,30787182,38961290 | 19338747 | 9590180 http://nanbyodata.jp/ontology/NANDO_1200332 NANDO:1200332 指定難病 Designated intractable disease ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome MONDO:0009623 exactMatch http://glycosmos.org/glycogene/4744 4744 NEFH protein kinase binding | protein-macromolecule adaptor activity | dynein complex binding | microtubule binding | structural constituent of cytoskeleton | kinesin binding | protein binding | structural constituent of postsynaptic intermediate filament cytoskeleton http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0019894 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0099184 24327345,9313898 | | 17498690 | 17498690 | 7536898 | 17498690 | 32814053 | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/4750 4750 NEK1 histone H2AT120 kinase activity | histone H3T6 kinase activity | Rho-dependent protein serine/threonine kinase activity | 3-phosphoinositide-dependent protein kinase activity | protein tyrosine kinase activity | ATP binding | histone H3T3 kinase activity | histone H2AS1 kinase activity | histone H2AS121 kinase activity | protein serine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | protein binding | protein kinase activity | histone H3T11 kinase activity | 14-3-3 protein binding | histone H3S10 kinase activity | DNA-dependent protein kinase activity | metal ion binding | histone H3S28 kinase activity | ribosomal protein S6 kinase activity | AMP-activated protein kinase activity | histone H3S57 kinase activity | histone H2BS36 kinase activity | histone H4S1 kinase activity | histone H2AXS139 kinase activity | kinase activity | histone H2BS14 kinase activity | histone H3T45 kinase activity http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140857 | | | | | | | | | | | 14690447,24510904,24947832,26167768,26290490,28514442,33961781,35271311,36931259 | 15604234 | | | | | | | | | | | | | 19158487 | | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/4914 4914 NTRK1 nerve growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | nerve growth factor binding | boss receptor activity | protein homodimerization activity | vascular endothelial growth factor receptor activity | identical protein binding | protein tyrosine kinase activity | transmembrane-ephrin receptor activity | ATP binding | neurotrophin p75 receptor binding | kinase binding | neurotrophin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor beta-receptor activity | insulin receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | protein binding | neurotrophin binding | epidermal growth factor receptor activity | macrophage colony-stimulating factor receptor activity http://purl.obolibrary.org/obo/GO_0010465 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0048406 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005166 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005030 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043121 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005011 1281417,15488758 | 1281417,15488758,27655914 | | | 1281417,15488758,17196528 | | 1281417,17196528 | | 21187090,28197073 | 2927393 | | | | | | | | | | | | | | | 10490030,12237455,14985763,15488758,17389358,21102451,21364532,21570973,22939624,26446845,27445338,28197073,35384245,8226808,8384556 | | | http://nanbyodata.jp/ontology/NANDO_1200553 NANDO:1200553 指定難病 Designated intractable disease 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis MONDO:0009746 exactMatch http://glycosmos.org/glycogene/23129 23129 PLXND1 semaphorin receptor activity | protein domain specific binding | protein binding http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | 24841563 | 17318185,24139859,24841563,32296183 http://nanbyodata.jp/ontology/NANDO_1200559 NANDO:1200559 指定難病 Designated intractable disease メビウス症候群 Moebius syndrome MONDO:0008006 exactMatch http://glycosmos.org/glycogene/9723 9723 SEMA3E receptor ligand activity | chemorepellent activity | semaphorin receptor binding | protein binding | neuropilin binding http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038191 25985275 | | 25985275 | 17318185 | http://nanbyodata.jp/ontology/NANDO_1200464 NANDO:1200464 指定難病 Designated intractable disease チャージ症候群 CHARGE syndrome MONDO:0008965 exactMatch http://glycosmos.org/glycogene/7099 7099 TLR4 signaling receptor binding | identical protein binding | NAD+ nucleotidase, cyclic ADP-ribose generating | lipopolysaccharide immune receptor activity | protein heterodimerization activity | amyloid-beta binding | lipopolysaccharide binding | signaling receptor activity | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061809 | http://purl.obolibrary.org/obo/GO_0001875 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 20037584 | 23059983,23155421,31319868 | | 19252480 | 20037584 | 20037584 | 10835634,16514062 | 15618008,16751103,18222170 | 11970998,15618008 | 11441107,11544529,12925853,15356101,15728506,16622205,17064675,17126326,17258210,17803912,19060881,19252480,19509286,20037584,20547845,21383675,21829704,21903422,22474354,22532668,25187624,29150600,29190778,36232715 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/7128 7128 TNFAIP3 identical protein binding | kinase binding | K63-linked polyubiquitin modification-dependent protein binding | protease binding | ubiquitin-protein transferase activity | DNA binding | protein binding | ubiquitin binding | K63-linked deubiquitinase activity | zinc ion binding | cysteine-type deubiquitinase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0070530 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0061578 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004843 25416956,25502805,30561431,31515488,32296183 | | | 18223652 | 15258597 | | 11463333,15142865,15169888,15231748,15474016,19060883,19131965,20392859,20936779,21988832,23032186,25416956,30561431,31015422,31515488,32296183,33961781,36931259,9299557 | 19285159 | 14748687 | | 15258597,20392859,23827681 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/7132 7132 TNFRSF1A signaling receptor activity | tumor necrosis factor receptor activity | tumor necrosis factor binding | protein binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0043120 | http://purl.obolibrary.org/obo/GO_0005515 | 2158863,26183779 | 9435233 | 10848577,11684708,12887920,14743216,15465831,16611992,18022363,19524513,19641494,19781631,20080539,20103630,22028622,22817896,23955153,24070898,24130170,24440909,25241761,25911380,2848815,33961781,7758105,8565075,8943045,8985253,9115275 http://nanbyodata.jp/ontology/NANDO_1200472 NANDO:1200472 指定難病 Designated intractable disease TNF受容体関連周期性症候群 TNF receptor-associated periodic fever syndrome MONDO:0007727 exactMatch http://glycosmos.org/glycogene/355 355 FAS calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 24914971 | 21382479,7536190,7538908 | 12221075 | 7533181 | 7538908 | 10918185,11003656,11495919,11606059,12724420,12887920,15465831,15917238,16498403,17047155,17159907,18328427,18846110,19118384,20935634,20956295,21109225,21382479,21625644,21713032,21803845,25241761,26942442,33961781,7536190,7538907 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/9966 9966 TNFSF15 tumor necrosis factor receptor binding | cytokine activity | protein binding | signaling receptor binding http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | | 21300286,32814053 | 9434163 http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/7292 7292 TNFSF4 protein binding | tumor necrosis factor receptor binding | cytokine activity | signaling receptor binding | tumor necrosis factor receptor superfamily binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0032813 16905106 | | | 7913952 | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/7137 7137 TNNI3 calcium channel inhibitor activity | troponin T binding | protein kinase binding | actin filament binding | calcium-dependent protein binding | protein binding | troponin C binding | actin binding | protein domain specific binding http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0031014 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030172 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0019904 12809519 | 15542288 | 12721663 | 25771144 | 7957210 | 10806205,12525172,12721663,12809519,12840750,16516408,18986304,21569246,23369981,25910212,28514442,29997244,32296183,32814053,33961781 | 11735257,15542288,7957210 | 10806205 | 11984006 http://nanbyodata.jp/ontology/NANDO_1200286 NANDO:1200286 指定難病 Designated intractable disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/7137 7137 TNNI3 calcium channel inhibitor activity | troponin T binding | protein kinase binding | actin filament binding | calcium-dependent protein binding | protein binding | troponin C binding | actin binding | protein domain specific binding http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0031014 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030172 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0019904 12809519 | 15542288 | 12721663 | 25771144 | 7957210 | 10806205,12525172,12721663,12809519,12840750,16516408,18986304,21569246,23369981,25910212,28514442,29997244,32296183,32814053,33961781 | 11735257,15542288,7957210 | 10806205 | 11984006 http://nanbyodata.jp/ontology/NANDO_1200288 NANDO:1200288 指定難病 Designated intractable disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/9101 9101 USP8 SH3 domain binding | cysteine-type deubiquitinase activity | protein binding | K48-linked deubiquitinase activity | cadherin binding | cysteine-type endopeptidase activity | K63-linked deubiquitinase activity http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990380 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004197 | http://purl.obolibrary.org/obo/GO_0061578 | 16520378,18388320,18728397,27444016 | 15161933,15778465,17711858,18329369,19302785,19427866,24378640,28514442,33961781,35271311,36931259 | 16520378 | 25468996 | 9827704 | 16520378 http://nanbyodata.jp/ontology/NANDO_1200379 NANDO:1200379 指定難病 Designated intractable disease クッシング病 Cushing disease MONDO:0009050 exactMatch http://glycosmos.org/glycogene/9217 9217 VAPB protein binding | protein-membrane adaptor activity | protein heterodimerization activity | FFAT motif binding | beta-tubulin binding | cadherin binding | protein homodimerization activity | microtubule binding | enzyme binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0033149 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0019899 16227268,18160438,18555774,19289470,19515777,19615732,21976701,22131369,23736259,25616068,25910212,26496610,26618866,28377464,28514442,29858488,30659099,30741634,31515488,32296183,32344433,32814053,33124732,33961781,35156780,35271311,36012204,9920726 | | 16227268,9920726 | 18713837,24105263,33124732 | 17540579 | 25468996 | 16227268,17540579,9920726 | 18713837 | 17540579 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/79258 79258 MMEL1 metalloendopeptidase activity | endopeptidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0046872 | 18539150 | http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/9103 9103 FCGR2C IgG receptor activity | IgG binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 | | 2531080 | 17474147,17785206 http://nanbyodata.jp/ontology/NANDO_1200315 NANDO:1200315 指定難病 Designated intractable disease 免疫性血小板減少症 Immune thrombocytopenia MONDO:0008558 exactMatch http://glycosmos.org/glycogene/9896 9896 FIG4 protein binding | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity | phosphatidylinositol-3-phosphate phosphatase activity | protein serine/threonine phosphatase activity | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity | phosphatidylinositol-4-phosphate phosphatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034485 | http://purl.obolibrary.org/obo/GO_0004438 | http://purl.obolibrary.org/obo/GO_0004722 | http://purl.obolibrary.org/obo/GO_0004439 | http://purl.obolibrary.org/obo/GO_0043813 | http://purl.obolibrary.org/obo/GO_0043812 17556371,19037259,28514442,32296183,33961781,35271311 | | | | | | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/149233 149233 IL23R interleukin-12 receptor binding | peptide hormone binding | cytokine receptor activity | protein binding | cytokine binding | prolactin receptor activity | interleukin-23 binding | interleukin-23 receptor activity http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004925 | http://purl.obolibrary.org/obo/GO_0042019 | http://purl.obolibrary.org/obo/GO_0042020 12023369 | | 29287995 | 12023369,25416956 | | | 12023369 | 12023369 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/80114 80114 BICC1 RNA binding http://purl.obolibrary.org/obo/GO_0003723 22658674 http://nanbyodata.jp/ontology/NANDO_1200368 NANDO:1200368 指定難病 Designated intractable disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/57462 57462 MYORG hydrolase activity, hydrolyzing O-glycosyl compounds http://purl.obolibrary.org/obo/GO_0004553 "" http://nanbyodata.jp/ontology/NANDO_1200207 NANDO:1200207 指定難病 Designated intractable disease 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_1200464 NANDO:1200464 指定難病 Designated intractable disease チャージ症候群 CHARGE syndrome MONDO:0008965 exactMatch http://glycosmos.org/glycogene/79631 79631 EFL1 translation elongation factor activity | protein binding | ribosome binding | GTP binding | GTPase activity http://purl.obolibrary.org/obo/GO_0003746 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0003924 | 30545121,39251607 | 21536732 | | 21536732 http://nanbyodata.jp/ontology/NANDO_1200356 NANDO:1200356 指定難病 Designated intractable disease シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome MONDO:0009833 exactMatch http://glycosmos.org/glycogene/9993 9993 DGCR2 carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | 33961781,34819669 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0008644 closeMatch http://glycosmos.org/glycogene/175 175 AGA protein binding | peptidase activity | N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0003948 32296183,32814053 | | 1281977,1904874 http://nanbyodata.jp/ontology/NANDO_1200133 NANDO:1200133 指定難病 Designated intractable disease アスパルチルグルコサミン尿症 Aspartylglucosaminuria MONDO:0008830 exactMatch http://glycosmos.org/glycogene/204 204 AK2 adenylate kinase activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0004017 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 6182143 | | 32814053 http://nanbyodata.jp/ontology/NANDO_1200322 NANDO:1200322 指定難病 Designated intractable disease 細網異形成症 Reticular dysgenesis MONDO:0009973 exactMatch http://glycosmos.org/glycogene/9782 9782 MATR3 RNA binding | miRNA binding | protein binding | structural molecule activity | zinc ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 22658674,22681889 | 28431233 | 16189514,17043677,17932509,19486527,20195357,25416956,25959826,26496610,26979993,27731383,29961565,30021884,31413325,32296183,32814053,37548402 | 2033075 | | 25416956,32296183 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/190 190 NR0B1 transcription corepressor activity | protein domain specific binding | AF-2 domain binding | RNA binding | protein homodimerization activity | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | nuclear receptor binding | DNA hairpin binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0050682 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0032448 19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387 http://nanbyodata.jp/ontology/NANDO_1200403 NANDO:1200403 指定難病 Designated intractable disease 先天性副腎低形成症 Congenital adrenal hypoplasia MONDO:0010264 closeMatch http://glycosmos.org/glycogene/190 190 NR0B1 transcription corepressor activity | protein domain specific binding | AF-2 domain binding | RNA binding | protein homodimerization activity | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | nuclear receptor binding | DNA hairpin binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0050682 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0032448 19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387 http://nanbyodata.jp/ontology/NANDO_1200404 NANDO:1200404 指定難病 Designated intractable disease NR0B1異常症 NR0B1　abnormality MONDO:0010226 exactMatch http://glycosmos.org/glycogene/641 641 BLM telomeric D-loop binding | Y-form DNA binding | forked DNA-dependent helicase activity | cohesin loader activity | ATP binding | double-stranded DNA helicase activity | DNA binding | ATP-dependent H2AZ histone chaperone activity | DNA helicase activity | isomerase activity | four-way junction helicase activity | zinc ion binding | protein binding | G-quadruplex DNA binding | p53 binding | helicase activity | ATP hydrolysis activity | four-way junction DNA binding | telomeric G-quadruplex DNA binding | single-stranded 3'-5' DNA helicase activity | protein homodimerization activity | bubble DNA binding | identical protein binding | ATP-dependent H3-H4 histone complex chaperone activity | DNA/DNA annealing activity | chromatin extrusion motor activity | 3'-5' DNA helicase activity | single-stranded DNA binding | DNA clamp loader activity | ATP-dependent activity, acting on DNA | 8-hydroxy-2'-deoxyguanosine DNA binding http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0000403 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051880 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0061849 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_1905773 19734539 | 11735402 | 11735402,25901030 | | 24816114,25901030 | | 24816114 | | 12181313,12818200,17878217,19734539,21325134,24816114,25901030,9388193 | | 11433031,11735402,12818200,25901030 | 24816114,25901030 | 10728666,10825162,11309417,11919194,12181313,12975363,14688284,15229185,15775963,15965237,16030011,16864798,17961633,20360068,20711169,20826342,21240188,21325134,23509288,23708797,24126761,26496610,28506294,35271311 | 11433031,11735402 | 11781842 | 10871376 | | 11735402,20639533,25901030 | 19734539 | | 28228481 | 11433031,11735402 | 10359700 | | 17878217 | | 9388193 | 12818200,20639533 | | 10359700,24816114,25901030 | 19734539 http://nanbyodata.jp/ontology/NANDO_1200333 NANDO:1200333 指定難病 Designated intractable disease ブルーム症候群 Bloom syndrome MONDO:0008876 exactMatch http://glycosmos.org/glycogene/659 659 BMPR2 activin receptor activity, type I | transforming growth factor beta receptor activity, type II | transforming growth factor beta receptor activity | BMP binding | protein tyrosine kinase binding | cadherin binding | ATP binding | transforming growth factor beta receptor activity, type I | protein binding | BMP receptor activity | growth factor binding | activin receptor activity, type II | metal ion binding | transforming growth factor beta receptor activity, type III http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | http://nanbyodata.jp/ontology/NANDO_1200427 NANDO:1200427 指定難病 Designated intractable disease 肺静脈閉塞症 Pulmonary veno-occlusive disease MONDO:0009937 exactMatch http://glycosmos.org/glycogene/710 710 SERPING1 serine-type endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005515 11527969 | 10570951,10946292,16237761,22046132,22483117,25359215,25910212,28484054,28742139,33961781 http://nanbyodata.jp/ontology/NANDO_1200365 NANDO:1200365 指定難病 Designated intractable disease 遺伝性血管性浮腫 Hereditary angioedema MONDO:0007361 closeMatch http://glycosmos.org/glycogene/7415 7415 VCP ubiquitin-dependent protein binding | ubiquitin-like protein ligase binding | polyubiquitin modification-dependent protein binding | MHC class I protein binding | ADP binding | protein domain specific binding | lipid binding | BAT3 complex binding | RNA binding | ATP hydrolysis activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin extrusion motor activity | deubiquitinase activator activity | ATP-dependent H2AZ histone chaperone activity | cohesin loader activity | identical protein binding | DNA clamp loader activity | ubiquitin protein ligase binding | K48-linked polyubiquitin modification-dependent protein binding | ubiquitin-specific protease binding | protein phosphatase binding | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0140036 | http://purl.obolibrary.org/obo/GO_0044389 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_1904288 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0035800 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0036435 | http://purl.obolibrary.org/obo/GO_1990381 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 29033132,31387940,35013556 | 16186510 | 11483959 | | | 15362974 | | 21636303 | 22681889 | 15215856,23349634,24129571 | | | 22970133 | | | 20512113,24055316,25416956,26712278,26822609,26849035 | | 22590560 | 37816088 | 22590560,22970133 | 10364224 | | 10364224,10855792,15161933,15215856,15743842,16186510,16275660,16306228,16407162,16449189,16525503,17314412,17525332,17681147,17872946,18654987,18656546,18711132,18775313,19275885,19570996,19818707,19822669,20414249,21135095,21343306,21645854,21822278,21900206,21949850,21988832,22119785,22120668,22466964,22795130,22902628,22948820,23042605,23042607,23349634,24089527,24726327,25416956,25593058,25814554,25959826,26265139,26389662,26471729,26496610,26712280,26842564,27714797,27753622,27812135,28514442,29804830,29892012,29997244,30455355,31073040,31515488,31847414,32152270,32296183,32814053,33961781,35271311,35273242,9452483 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/7535 7535 ZAP70 protein binding | ATP binding | phosphotyrosine residue binding | signaling receptor binding | non-membrane spanning protein tyrosine kinase activity | protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0004713 10318843,10704231,10752619,11855827,11891219,12051764,12359715,12646565,15832366,16273093,16461343,19843936,21957439,22266821,23460737,24658140,24728074,26783323,31980649,7509083,7528772,7761456,8648092,8901551,9185620 | 1423621 | | | 12447358,20135127,9489702 | 1423621,15292186,8613493 http://nanbyodata.jp/ontology/NANDO_1200327 NANDO:1200327 指定難病 Designated intractable disease ZAP-70欠損症 Zap-70 deficiency MONDO:0010023 exactMatch http://glycosmos.org/glycogene/720 720 C4A complement component C1q complex binding | endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 2395880 | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/720 720 C4A complement component C1q complex binding | endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 2395880 | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/721 721 C4B protein binding | endopeptidase inhibitor activity | carbohydrate binding | complement binding | complement component C1q complex binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0001848 | http://purl.obolibrary.org/obo/GO_0001849 22071314 | | 2395880 | 2395880 | http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/55830 55830 GLT8D1 UDP-glycosyltransferase activity http://purl.obolibrary.org/obo/GO_0008194 "" http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/79932 79932 KIAA0319L protein binding http://purl.obolibrary.org/obo/GO_0005515 20697954,25416956 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3064 3064 HTT dynein intermediate chain binding | profilin binding | transmembrane transporter binding | phosphoprotein phosphatase activity | beta-tubulin binding | dynactin binding | heat shock protein binding | kinase binding | identical protein binding | p53 binding | protein binding http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0005522 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0004721 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0034452 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0005515 20515468 | 18573880 | 12873381 | 21562226 | 11870213 | 18922795 | 21909508 | 25686248 | 19487684,22119730,22854022,23275563,25848931 | 10823891 | 10823891,12873381,15383276,15603740,15654337,16115810,16169070,16476778,17161366,17500595,17548833,17947297,18192679,18615096,19240112,19498170,20417604,20515468,22119730,22835334,23275563,23303669,24705354,25686248,25959826,26198635,26637326,28445460,28514442,29466333,32814053,33961781,34524948,7477378,9285789,9668110,9798945 http://nanbyodata.jp/ontology/NANDO_1200012 NANDO:1200012 指定難病 Designated intractable disease ハンチントン病 Huntington's disease MONDO:0007739 exactMatch http://glycosmos.org/glycogene/3070 3070 HELLS chromatin binding | helicase activity | ATP binding | protein binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016787 | | | 22157815,32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_1200334 NANDO:1200334 指定難病 Designated intractable disease ICF症候群 ICF syndrome MONDO:0000133 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3178 3178 HNRNPA1 identical protein binding | pre-mRNA binding | DNA binding | miRNA binding | single-stranded RNA binding | single-stranded DNA binding | G-rich strand telomeric DNA binding | telomeric repeat-containing RNA binding | mRNA 3'-UTR binding | protein binding | protein domain specific binding | RNA binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0036002 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003727 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0098505 | http://purl.obolibrary.org/obo/GO_0061752 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0003723 23455423,25009770 | 25689357,28985503 | 10323862 | 28431233 | 8521471 | 8521471 | 23935072 | 23935072,24529708 | | 11546873,17229681,17371836,17435768,20186123,22365833,22446626,24514149,24549040,25009770,25616961,25678563,26496610,26979993,28985503,30021884,33961781,35271311,39251607 | 10332027,10749975 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/3265 3265 HRAS GTPase activity | GTP binding | protein binding | protein-membrane adaptor activity | GDP binding | G protein activity http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0003925 9178006,9230043 | 14500341,17260967,9230043 | 10369681,10608844,11022048,11335720,11598133,11857081,11980706,12620389,12628188,14500341,14724641,15507210,15886098,16316996,16698549,16810318,17084389,17540175,18073111,18273062,18454158,18596699,19063885,19141281,19222999,19696784,20080631,20133692,20133694,20178605,20936779,2122974,22020336,22169110,24441586,24929361,25241761,25684575,26165597,26635368,28514442,30194290,30518913,32296183,32814053,33961781,34591612,34591642,8332187,8670882,9144171,9219684,9447984,9488663,9690470 | | 8142349,9230043 | http://nanbyodata.jp/ontology/NANDO_1200463 NANDO:1200463 指定難病 Designated intractable disease コステロ症候群 Costello syndrome MONDO:0009026 exactMatch http://glycosmos.org/glycogene/411 411 ARSB N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 19306108 | | 2303452 http://nanbyodata.jp/ontology/NANDO_1200108 NANDO:1200108 指定難病 Designated intractable disease マロトー・ラミー症候群 Maroteaux-Lamy syndrome MONDO:0009661 exactMatch http://glycosmos.org/glycogene/472 472 ATM identical protein binding | histone H2BS36 kinase activity | protein-containing complex binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | histone H2AS121 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | histone H4S1 kinase activity | histone H3T6 kinase activity | histone H3S28 kinase activity | histone H3T11 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S57 kinase activity | protein serine/threonine kinase activity | DNA-dependent protein kinase activity | histone H2AXS139 kinase activity | histone H2BS14 kinase activity | histone H3T3 kinase activity | DNA binding | ATP binding | AMP-activated protein kinase activity | histone H3T45 kinase activity | protein serine kinase activity | 1-phosphatidylinositol-3-kinase activity | protein binding | Rho-dependent protein serine/threonine kinase activity | ribosomal protein S6 kinase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004711 15790808 | | 15790808 | | | | | | | | | | | | 10766245,10802669,10973490,11375976,20096447,21757780,24534091,26240375,26323318,26344566,26774286,30612738,30886146,30952868,38128537,9733515 | 15790808 | | | | | | | | | 11375976 | 11375976,12607005,15314656,16452482,17157788,17525732,18160036,18449195,18583959,18667510,18710941,19015526,19412162,20801936,20810650,20864032,22621922,22977523,25640309,25895060,29656893,30886146,30944854,32296183,9168117,9733515 | | http://nanbyodata.jp/ontology/NANDO_1200331 NANDO:1200331 指定難病 Designated intractable disease 毛細血管拡張性運動失調症 Ataxia telangiectasia MONDO:0008840 exactMatch http://glycosmos.org/glycogene/5015 5015 OTX2 protein binding | eukaryotic initiation factor 4E binding | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008190 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 20530484,32296183,32814053 | 15705863 | 28473536 | 12559959 | 12559959,20530484 | http://nanbyodata.jp/ontology/NANDO_1200560 NANDO:1200560 指定難病 Designated intractable disease 中隔視神経形成異常症／ドモルシア症候群 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 closeMatch http://glycosmos.org/glycogene/5133 5133 PDCD1 protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 15240681,17489864,20587542,21982860,23417675,26602187,28046066,30487606 | 21276005,38377992 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/5155 5155 PDGFB protein heterodimerization activity | platelet-derived growth factor binding | protein homodimerization activity | platelet-derived growth factor receptor binding | identical protein binding | superoxide-generating NADPH oxidase activator activity | collagen binding | chemoattractant activity | growth factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016176 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 7073684 | 7073684 | 2836953 | 1661670,20534510,2439522,2536956,2836953 | 1396586,23139410,7679113 | 17942966 | 8900172 | 21245381 | 12070119 | 10806482,11297552,12070119,17981115,20534510,2536956,32296183,7679113 http://nanbyodata.jp/ontology/NANDO_1200207 NANDO:1200207 指定難病 Designated intractable disease 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 exactMatch http://glycosmos.org/glycogene/5159 5159 PDGFRB stem cell factor receptor activity | GTPase activator activity | platelet-derived growth factor beta-receptor activity | GPI-linked ephrin receptor activity | transmembrane-ephrin receptor activity | platelet activating factor receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | fibroblast growth factor receptor activity | platelet-derived growth factor receptor activity | protein kinase activity | epidermal growth factor receptor activity | vascular endothelial growth factor binding | signaling receptor binding | placental growth factor receptor activity | hepatocyte growth factor receptor activity | protein tyrosine kinase activity | ATP binding | macrophage colony-stimulating factor receptor activity | protein binding | insulin receptor activity | enzyme binding | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor receptor binding | platelet-derived growth factor binding | protein kinase binding | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0004992 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005017 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0038085 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | 1653029 | 1314164,2536956,2554309,26599395,2850496 | | | 2536956 | | | | 2536956 | 1314164 | | 17470632 | 10821867 | | | 1653029 | | | 10336465,10752619,10806482,10821867,11297552,11710529,11896612,12614164,12706723,1314164,1330535,1334459,1375321,1396585,15641795,16456542,16477012,1661130,17242191,17470632,17981115,18997771,19167335,19864249,20534510,21245321,21376233,2157284,23063561,23397142,24012959,25241761,25416956,30015847,31585087,32296183,32814053,33961781,35384245,7530043,7536927,7545675,7679113,7680644,7683666,7685273,7687537,7688466,7692233,7876130,8119896,8181064,8183548,8382612,8382774,8538796,8555205,8564419,8670861,8940081,9153411,9355745,9512716,9742401 | | 26315405 | | 2542288 | 2536956,2554309,2850496 | 16479011 | | | http://nanbyodata.jp/ontology/NANDO_1200207 NANDO:1200207 指定難病 Designated intractable disease 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 exactMatch http://glycosmos.org/glycogene/5216 5216 PFN1 RNA binding | protein binding | proline-rich region binding | phosphatidylinositol-4,5-bisphosphate binding | actin binding | actin monomer binding | adenyl-nucleotide exchange factor activity | cadherin binding | small GTPase binding | phosphotyrosine residue binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0003785 | http://purl.obolibrary.org/obo/GO_0000774 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0001784 22681889 | 16531231,17470807,18573880,18689676,19000816,19338310,23153535,25255767,32814053,35271311,9822597,9843499 | 17914456 | 7758455 | 17914456,7758455 | 18573880 | 7758455 | 25468996 | | 24700464 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/5310 5310 PKD1 calcium channel activity | transcription regulator inhibitor activity | Wnt receptor activity | protein binding | protein kinase binding | carbohydrate binding | monoatomic cation channel activity | protein domain specific binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0140416 | http://purl.obolibrary.org/obo/GO_0042813 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005261 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0044325 27214281 | | 27214281 | 10097141,15563610,19556541,20168298,20856870,21642537,24939912,30093605,37681898 | 17980165 | | | 9171830 | 9192675 http://nanbyodata.jp/ontology/NANDO_1200368 NANDO:1200368 指定難病 Designated intractable disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/5311 5311 PKD2 voltage-gated monoatomic cation channel activity | potassium channel activity | voltage-gated calcium channel activity | ATPase binding | protein binding | phosphoprotein binding | transcription regulator inhibitor activity | outward rectifier potassium channel activity | calcium-induced calcium release activity | cytoskeletal protein binding | HLH domain binding | calcium channel activity | voltage-gated potassium channel activity | voltage-gated sodium channel activity | muscle alpha-actinin binding | transmembrane transporter binding | signaling receptor binding | monoatomic cation channel activity | actinin binding | voltage-gated monoatomic ion channel activity | protein homodimerization activity | calcium ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0022843 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0140416 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0043398 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0051371 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005261 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0005244 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0042802 11252306 | 26269590 | 11252306,15692563 | | 10097141,10760273,12525172,12809519,15123714,15194699,15692563,16223735,16311606,18235088,19193631,19556541,19812035,19850920,20168298,21642537,25114176,25416956,28514442,29892012,30093605,32296183,33961781,36420836,9171830,9192675 | 19801576 | 16311606 | | 11854751 | 10760273 | 16311606 | 27214281 | 27071085 | 11252306,27071085 | | 10097141 | 16223735 | 29899465 | 15843396 | 11854751 | 38483987,9192675 | 24990821,38483987 | 19556541,20168298,21622852,27768895,27991905,28092368 http://nanbyodata.jp/ontology/NANDO_1200368 NANDO:1200368 指定難病 Designated intractable disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/5314 5314 PKHD1 protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 16243292,18235088,20048263,20709014 | 11919560 http://nanbyodata.jp/ontology/NANDO_1200369 NANDO:1200369 指定難病 Designated intractable disease 常染色体劣性多発性嚢胞腎 Autosomal recessive polycystic kidney disease MONDO:0009889 exactMatch http://glycosmos.org/glycogene/5444 5444 PON1 arylesterase activity | acyl-L-homoserine-lactone lactonohydrolase activity | calcium ion binding | aryldialkylphosphatase activity | protein homodimerization activity | phospholipid binding http://purl.obolibrary.org/obo/GO_0004064 | http://purl.obolibrary.org/obo/GO_0102007 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004063 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 15098021,1673382,7638166 | 15772423 | 15098021 | 15098021,7638166 | 15772423 | 10479665 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/5445 5445 PON2 metal ion binding | acyl-L-homoserine-lactone lactonohydrolase activity | protein homodimerization activity | arylesterase activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0102007 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004064 | http://purl.obolibrary.org/obo/GO_0005515 | 15772423 | 15772423 | | 33961781 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/5446 5446 PON3 acyl-L-homoserine-lactone lactonohydrolase activity | protein homodimerization activity | aryldialkylphosphatase activity | arylesterase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0102007 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004063 | http://purl.obolibrary.org/obo/GO_0004064 | http://purl.obolibrary.org/obo/GO_0046872 15772423 | 15772423 | | 15772423,8661009 | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/5450 5450 POU2AF1 transcription coactivator activity | DNA binding | protein binding | transcription coregulator activity | POU domain binding http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0070974 11380252 | | 11483518,28514442,32296183,33961781 | 7859290 | http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/5476 5476 CTSA serine-type carboxypeptidase activity | carboxypeptidase activity | enzyme activator activity http://purl.obolibrary.org/obo/GO_0004185 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0008047 12505983,1907282 | 2244901 | 3107551 http://nanbyodata.jp/ontology/NANDO_1200119 NANDO:1200119 指定難病 Designated intractable disease ガラクトシアリドーシス Galactosialidosis MONDO:0009737 exactMatch http://glycosmos.org/glycogene/51422 51422 PRKAG2 protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase regulator activity | protein kinase regulator activity | ATP binding | phosphorylase kinase regulator activity | AMP binding | cAMP-dependent protein kinase inhibitor activity | AMP-activated protein kinase activity | ADP binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0008603 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008607 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0043531 10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279 http://nanbyodata.jp/ontology/NANDO_1200286 NANDO:1200286 指定難病 Designated intractable disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/51422 51422 PRKAG2 protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase regulator activity | protein kinase regulator activity | ATP binding | phosphorylase kinase regulator activity | AMP binding | cAMP-dependent protein kinase inhibitor activity | AMP-activated protein kinase activity | ADP binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0008603 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008607 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0043531 10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279 http://nanbyodata.jp/ontology/NANDO_1200288 NANDO:1200288 指定難病 Designated intractable disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/5630 5630 PRPH structural molecule activity | protein binding | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 1378416 | 21900206,32296183,32814053,33961781,36217029 | http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/5980 5980 REV3L 4 iron, 4 sulfur cluster binding | protein binding | DNA-directed DNA polymerase activity | metal ion binding | zinc ion binding | DNA binding | nucleotide binding http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003887 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000166 | 22828282 | | | | | http://nanbyodata.jp/ontology/NANDO_1200559 NANDO:1200559 指定難病 Designated intractable disease メビウス症候群 Moebius syndrome MONDO:0008006 exactMatch http://glycosmos.org/glycogene/5993 5993 RFX5 protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 10938133,16464847,20211142,20732328,25752541,26496610,28514442,33961781 | 9806546 | | 28473536 | 10586057,9806546 | | 23332764 http://nanbyodata.jp/ontology/NANDO_1200329 NANDO:1200329 指定難病 Designated intractable disease MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 exactMatch http://glycosmos.org/glycogene/6311 6311 ATXN2 mRNA binding | epidermal growth factor receptor binding | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0005154 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | 18602463 | 10814712,15663938,16115810,16713569,17097639,17392519,18602463,20181956,20740007,23209657,24981860,26184334,32814053,33961781,35271311,39251607 | 10814712,22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/6575 6575 SLC20A2 signaling receptor activity | sodium:phosphate symporter activity | virus receptor activity | inorganic phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005436 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0005315 8302848 | 12205090,15955065,16790504,17494632,22327515,28722801,30704756 | 12205090,15955065 | http://nanbyodata.jp/ontology/NANDO_1200207 NANDO:1200207 指定難病 Designated intractable disease 特発性基底核石灰化症 Idiopathic basal ganglia calcification MONDO:0008947 exactMatch http://glycosmos.org/glycogene/6515 6515 SLC2A3 D-glucose transmembrane transporter activity | glucose binding | glucose transmembrane transporter activity | galactose transmembrane transporter activity | dehydroascorbic acid transmembrane transporter activity | protein binding | fructose transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005354 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005353 26176916,8457197 | 26176916 | | 8457197 | 10862609,9228080 | 32296183,35810171 | 8457197 http://nanbyodata.jp/ontology/NANDO_1200012 NANDO:1200012 指定難病 Designated intractable disease ハンチントン病 Huntington's disease MONDO:0007739 exactMatch http://glycosmos.org/glycogene/6647 6647 SOD1 protein phosphatase 2B binding | protein-folding chaperone binding | protein homodimerization activity | superoxide dismutase activity | zinc ion binding | small GTPase binding | copper ion binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0030346 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004784 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 17324120 | 9726962 | 24567322 | 12551919,15544046,17324120,24140062,24567322 | 17381088 | 18219391 | 17008312 | 12968035,16369483,16595634,16790527,19171884,20195357,21252941,22508683,24023695,24234043,24981860,26643113,28514442,29128334,31292775,32814053,33961781 | 17592131,19022905,19171884,19369197,19828437,21257910,23831581,26643113,31999698 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/6657 6657 SOX2 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA binding | sequence-specific DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | miRNA binding | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003700 | | 18456656,19736317,23667531,24048479,24525231,25416956,25702638,27334688,29358331,30442713,31515488 | 16153702,18285410,18407919,19427902,7849401 | 20713518 | | 18407919 | 18710938 | 16153702,18027866,7849401 http://nanbyodata.jp/ontology/NANDO_1200560 NANDO:1200560 指定難病 Designated intractable disease 中隔視神経形成異常症／ドモルシア症候群 Septo-optic dysplasia / De Morsier syndrome MONDO:0008428 closeMatch http://glycosmos.org/glycogene/6696 6696 SPP1 cytokine activity | small molecule binding | integrin binding | extracellular matrix binding | protein binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0005515 | 33914399 | 25839998 | | 10747989,11162539,16189514,21988832,22582013,25416956,25789606,25910212,26091039,32296183,32814053,8560266 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/8878 8878 SQSTM1 protein kinase binding | signaling adaptor activity | ubiquitin protein ligase binding | protein kinase C binding | SH2 domain binding | identical protein binding | protein-containing complex binding | molecular condensate scaffold activity | ubiquitin-dependent protein binding | protein sequestering activity | signaling receptor activity | ionotropic glutamate receptor binding | molecular sequestering activity | protein binding | protein-macromolecule adaptor activity | zinc ion binding | receptor tyrosine kinase binding | ubiquitin binding | enzyme binding | K63-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0140036 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0070530 8650207 | | 25127057,27368102 | 14676191 | 8650207 | 16169070,20562859,21900206,25416956,25686248,32296183 | | 29343546,29507397,31857589,37306101,37802024 | 22017874,27498865,31857589,34893540,36221902 | 37306101 | 28871090 | | 31281713 | 14676191,16169070,16189514,16874300,17389358,17580304,18083104,19229298,19250911,19427866,19615732,20010802,20168092,20173742,20357094,20417604,20452972,20551902,20562859,20808283,21149568,21900206,21988832,22178386,22190034,22421968,23274085,23459205,24089205,24189400,24316673,24668264,24879152,25026213,25040165,25126726,25416956,25422469,25686248,25910212,25959826,26344566,26347139,26524528,26637326,27103069,27728806,28404643,29519959,31169361,31515488,31616248,31980649,32296183,32814053,33436498,33961781,34524948,34591642,34799561,35044719,35271311,37219487,37460613,39009827,8618896,8702753 | 26344566,31857589,34893540,37802024 | | 8650207 | 12857745 | 27368102 | 28404643,29343546 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/29978 29978 UBQLN2 polyubiquitin modification-dependent protein binding | protein binding | identical protein binding | molecular condensate scaffold activity http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140693 | 15231748,17098253,18199683,18307982,18497817,20059542,21988832,23459205,23541532,24215460,24811749,25616961,32296183,32814053,35914814,36217029 | 32296183 | 29526694 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/8086 8086 AAAS protein binding http://purl.obolibrary.org/obo/GO_0005515 27754849 http://nanbyodata.jp/ontology/NANDO_1200410 NANDO:1200410 指定難病 Designated intractable disease Allgrove症候群 Allgrove syndrome MONDO:0009279 exactMatch http://glycosmos.org/glycogene/64072 64072 CDH23 beta-catenin binding | calcium ion binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | | 12485990 | http://nanbyodata.jp/ontology/NANDO_1200379 NANDO:1200379 指定難病 Designated intractable disease クッシング病 Cushing disease MONDO:0009050 exactMatch http://glycosmos.org/glycogene/8220 8220 ESS2 protein binding http://purl.obolibrary.org/obo/GO_0005515 22365833,28514442,32296183,32814053,33961781,34694367 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0008644 closeMatch http://glycosmos.org/glycogene/54209 54209 TREM2 protein binding | transmembrane signaling receptor activity | protein-containing complex binding | kinase activator activity | semaphorin receptor binding | amyloid-beta binding | lipid binding | lipoprotein particle binding | high-density lipoprotein particle binding | semaphorin receptor activity | lipoteichoic acid binding | scaffold protein binding | apolipoprotein A-I binding | phosphatidylethanolamine binding | lipopolysaccharide binding | beta-catenin binding | apolipoprotein binding | peptidoglycan binding | phosphatidylserine binding | signaling receptor activity | protein tyrosine kinase binding | very-low-density lipoprotein particle binding | sulfatide binding | phospholipid binding | low-density lipoprotein particle binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0070891 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0042834 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030169 11602640,28490631,29611543,30341064 | 29518356,30333625 | 29518356 | 31902528 | | 29518356 | 29518356 | 27477018 | 27477018 | | | 11602640 | 27477018 | 31101881 | | 30683932 | 27477018 | | 31101881,31902528 | 29518356,32514138 | 29518356 | 27477018 | 31902528 | 27995897 | 27477018 http://nanbyodata.jp/ontology/NANDO_1200002 NANDO:1200002 指定難病 Designated intractable disease 筋萎縮性側索硬化症 Amyotrophic lateral sclerosis MONDO:0004976 exactMatch http://glycosmos.org/glycogene/29926 29926 GMPPA enzyme binding | mannose-1-phosphate guanylyltransferase (GTP) activity | protein binding | enzyme inhibitor activity | small molecule sensor activity | transferase activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004475 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004857 | http://purl.obolibrary.org/obo/GO_0140299 | http://purl.obolibrary.org/obo/GO_0016740 33986552 | 33986552 | 16189514,25416956,26871637,31515488,32296183,32814053,33961781 | 33986552 | 33986552 | http://nanbyodata.jp/ontology/NANDO_1200410 NANDO:1200410 指定難病 Designated intractable disease Allgrove症候群 Allgrove syndrome MONDO:0009279 exactMatch http://glycosmos.org/glycogene/54899 54899 PXK phosphatidylinositol binding | protein kinase activity | protein binding | nucleotide binding | actin binding | ATP binding http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000166 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005524 16142408 | 16142408 | 16135750 | 16142408 | | 16142408 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/64374 64374 SIL1 unfolded protein binding | protein binding | adenyl-nucleotide exchange factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000774 | http://purl.obolibrary.org/obo/GO_0042802 11101517 | 12356756,24473200,25416956,28514442,31258504,32296183,33961781 | 12356756 | 31258504 http://nanbyodata.jp/ontology/NANDO_1200485 NANDO:1200485 指定難病 Designated intractable disease マリネスコ・シェーグレン症候群 Marinesco-Sjogren syndrome MONDO:0009567 exactMatch http://glycosmos.org/glycogene/64127 64127 NOD2 ubiquitin binding | actin binding | Hsp90 protein binding | CARD domain binding | ATP binding | pattern recognition receptor activity | Hsp70 protein binding | protein-containing complex binding | protein binding | protein kinase binding | ADP binding | muramyl dipeptide binding | enzyme binding | peptidoglycan binding http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0050700 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0030544 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0032500 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042834 23300079 | 24790089 | 24790089 | 11087742 | | 12871942,17355968,22857257,23300079,27748583,31649195,33942347 | 24790089 | 17337451 | 11472070,15107016,15753091,16203728,16714539,17337451,18511561,19337385,20534456,21699783,21931826,22684479,22700971,22829933,23376921,23711367,24695226,26836588,27812135,28436939,30833792,31273097,35273242 | 15075345,24790089,25891078 | | 12871942,15044951,15998797,22857257,27748583 | 15753091 | 15998797 http://nanbyodata.jp/ontology/NANDO_1200476 NANDO:1200476 指定難病 Designated intractable disease ブラウ症候群 Blau syndrome MONDO:0008523 exactMatch http://glycosmos.org/glycogene/3284 3284 HSD3B2 steroid delta-isomerase activity | protein binding | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 3-beta-hydroxy-delta5-steroid dehydrogenase activity http://purl.obolibrary.org/obo/GO_0004769 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016616 | http://purl.obolibrary.org/obo/GO_0003854 1944309,25322271 | 32814053 | | 1944309,25322271 http://nanbyodata.jp/ontology/NANDO_1200398 NANDO:1200398 指定難病 Designated intractable disease 3β−水酸化ステロイド脱水素酵素欠損症 3-β-Hydroxysteroid dehydrogenase deficiency MONDO:0008727 exactMatch http://glycosmos.org/glycogene/3339 3339 HSPG2 amyloid-beta binding | extracellular matrix structural constituent conferring compression resistance | low-density lipoprotein particle receptor binding | integrin binding | calcium ion binding | protein binding | collagen V binding http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0030021 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070052 21289173 | 20551380,23979707,25037231,27559042,28327460,28675934 | 21289173 | 21126803 | | 11956183,12604605,21596751,23374253 | http://nanbyodata.jp/ontology/NANDO_1200224 NANDO:1200224 指定難病 Designated intractable disease シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome MONDO:0009717 exactMatch http://glycosmos.org/glycogene/3586 3586 IL10 protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005141 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884 http://nanbyodata.jp/ontology/NANDO_1200272 NANDO:1200272 指定難病 Designated intractable disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3586 3586 IL10 protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005141 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3592 3592 IL12A interleukin-12 receptor binding | interleukin-27 binding | protein binding | interleukin-12 beta subunit binding | cytokine activity | protein heterodimerization activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0045513 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042163 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008083 1674604 | 9342359 | 10899108,11023671,7527811 | 11023671 | 1673147,1674604,7584494 | 11023671,1674604 | 1673147,1674604 http://nanbyodata.jp/ontology/NANDO_1200284 NANDO:1200284 指定難病 Designated intractable disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3592 3592 IL12A interleukin-12 receptor binding | interleukin-27 binding | protein binding | interleukin-12 beta subunit binding | cytokine activity | protein heterodimerization activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0045513 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042163 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008083 1674604 | 9342359 | 10899108,11023671,7527811 | 11023671 | 1673147,1674604,7584494 | 11023671,1674604 | 1673147,1674604 http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/3594 3594 IL12RB1 interleukin-23 binding | cytokine binding | interleukin-12 receptor binding | cytokine receptor activity | interleukin-23 receptor activity | coreceptor activity | interleukin-12 receptor activity http://purl.obolibrary.org/obo/GO_0042019 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0042020 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0016517 12023369 | | 12023369 | 8943050 | 12023369 | 29287995 | 8943050 http://nanbyodata.jp/ontology/NANDO_1200439 NANDO:1200439 指定難病 Designated intractable disease 原発性胆汁性胆管炎 Primary biliary cholangitis MONDO:0005388 exactMatch http://glycosmos.org/glycogene/551 551 AVP protein kinase activity | cysteine-type endopeptidase inhibitor activity involved in apoptotic process | protein binding | neuropeptide hormone activity | signaling receptor binding | V1A vasopressin receptor binding | V1B vasopressin receptor binding | neurohypophyseal hormone activity http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0043027 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005184 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0031894 | http://purl.obolibrary.org/obo/GO_0031895 | http://purl.obolibrary.org/obo/GO_0005185 18402937 | | 32296183,33713620 | 18402937 | 1740104,8794883 | 18402937 | | http://nanbyodata.jp/ontology/NANDO_1200375 NANDO:1200375 指定難病 Designated intractable disease 中枢性尿崩症 Central diabetes insipidus MONDO:0007450 exactMatch http://glycosmos.org/glycogene/24148 24148 PRPF6 RNA binding | ribonucleoprotein complex binding | protein binding | identical protein binding | protein-macromolecule adaptor activity http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0043021 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030674 20797886,22658674 | 10788320 | 12620389,15840814,16723661,17332742,22365833,27173435,28514442,33961781,34316702,35271311,35709258,39251607 | 16723661 | 20118938 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/3559 3559 IL2RA protein binding | interleukin-2 receptor activity | interleukin-2 binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0019976 16477002,17032757 | 16293754,2467293 | http://nanbyodata.jp/ontology/NANDO_1200471 NANDO:1200471 指定難病 Designated intractable disease 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/3560 3560 IL2RB interleukin-15 receptor activity | coreceptor activity | protein binding | interleukin-2 receptor activity | cytokine receptor activity | interleukin-2 binding http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0019976 15123770 | 7973659,8026467 | 16477002,22446627,23104097,25416956,32296183 | 2467293,31040184,31040185,7736574 | | 2467293,31040184,31040185 http://nanbyodata.jp/ontology/NANDO_1200471 NANDO:1200471 指定難病 Designated intractable disease 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/3561 3561 IL2RG interleukin-15 receptor activity | interleukin-2 binding | coreceptor activity | cytokine binding | cytokine receptor activity | protein binding | interleukin-4 receptor activity | interleukin-2 receptor activity | interleukin-7 receptor activity http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0019976 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004913 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004917 15123770 | | 18829468,7568005,8026467,8128231,8624802 | | | 12504082,25416956,28514442,31515488,32296183,33961781,8266077 | 8266078 | 8266076 | 8266077 http://nanbyodata.jp/ontology/NANDO_1200324 NANDO:1200324 指定難病 Designated intractable disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_1200469 NANDO:1200469 指定難病 Designated intractable disease 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_1200470 NANDO:1200470 指定難病 Designated intractable disease 全身型若年性特発性関節炎 Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/3575 3575 IL7R interleukin-7 receptor activity | protein binding | antigen binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0004917 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003823 | http://purl.obolibrary.org/obo/GO_0004896 8128231 | 19141282,32296183,8266077 | 9495344 | 11418668,20974963 http://nanbyodata.jp/ontology/NANDO_1200324 NANDO:1200324 指定難病 Designated intractable disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/5995 5995 RGR G protein-coupled receptor activity | protein binding | G protein-coupled photoreceptor activity http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008020 8641686 | 16189514,32814053 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/56244 56244 BTNL2 signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | 32814053 http://nanbyodata.jp/ontology/NANDO_1200415 NANDO:1200415 指定難病 Designated intractable disease サルコイドーシス Sarcoidosis MONDO:0019338 exactMatch http://glycosmos.org/glycogene/59 59 ACTA2 protein binding | protein kinase binding | ATP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016787 28514442,33961781 | | | http://nanbyodata.jp/ontology/NANDO_1200183 NANDO:1200183 指定難病 Designated intractable disease もやもや病 Moyamoya disease MONDO:0016820 exactMatch http://glycosmos.org/glycogene/10320 10320 IKZF1 DNA binding | metal ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | DNA-binding transcription factor activity | protein domain specific binding | zinc ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183 http://nanbyodata.jp/ontology/NANDO_1200245 NANDO:1200245 指定難病 Designated intractable disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/10758 10758 TRAF3IP2 signaling receptor binding | protein binding | ubiquitin protein ligase activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061630 | 12459498,21516116,24120361,25416956 | 19825828 http://nanbyodata.jp/ontology/NANDO_1200363 NANDO:1200363 指定難病 Designated intractable disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/128674 128674 PROKR2 protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/10594 10594 PRPF8 U5 snRNA binding | metal-dependent deubiquitinase activity | pre-mRNA intronic binding | U6 snRNA binding | U2 snRNA binding | peptidase activity | U1 snRNA binding | protein binding | RNA binding | K63-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0030623 | http://purl.obolibrary.org/obo/GO_0140492 | http://purl.obolibrary.org/obo/GO_0097157 | http://purl.obolibrary.org/obo/GO_0017070 | http://purl.obolibrary.org/obo/GO_0030620 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0030619 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0070530 | 17559875 | | | | 17559875 | | 16723661,17332742,18951082,20696395,22365833,22720776,23704370,23793891,26711270,27173435,28514442,30021884,32814053,33961781,35271311,39251607,9774689 | 22658674,22681889 | 20595234 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/1145 1145 CHRNE transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | monoatomic cation transmembrane transporter activity | acetylcholine-gated monoatomic cation-selective channel activity | acetylcholine receptor activity http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0008324 | http://purl.obolibrary.org/obo/GO_0022848 | http://purl.obolibrary.org/obo/GO_0015464 7531341 | 8872460 | | http://nanbyodata.jp/ontology/NANDO_1200021 NANDO:1200021 指定難病 Designated intractable disease 先天性筋無力症候群 Congenital myasthenic syndrome MONDO:0018940 exactMatch http://glycosmos.org/glycogene/1200 1200 TPP1 metal ion binding | protein binding | serine-type endopeptidase activity | peptide binding | peptidase activity | lysophosphatidic acid binding | tripeptidyl-peptidase activity | endopeptidase activity | sulfatide binding | serine-type peptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008236 | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422 http://nanbyodata.jp/ontology/NANDO_1200150 NANDO:1200150 指定難病 Designated intractable disease セロイドリポフスチノーシス Neuronal ceroid-lipofuscinosis MONDO:0016295 exactMatch http://glycosmos.org/glycogene/1259 1259 CNGA1 cGMP binding | intracellular cAMP-activated cation channel activity | sodium channel activity | calcium channel activity | cAMP binding | intracellular cGMP-activated cation channel activity | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0030553 | http://purl.obolibrary.org/obo/GO_0005222 | http://purl.obolibrary.org/obo/GO_0005272 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0030552 | http://purl.obolibrary.org/obo/GO_0005223 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 34699778 | 34699778 | | | 34699778 | 34699778 | | 20890309 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/1258 1258 CNGB1 sodium channel activity | ligand-gated monoatomic ion channel activity | intracellular cAMP-activated cation channel activity | protein-containing complex binding | protein binding | cAMP binding | calcium channel activity | cGMP binding | intracellular cGMP-activated cation channel activity http://purl.obolibrary.org/obo/GO_0005272 | http://purl.obolibrary.org/obo/GO_0015276 | http://purl.obolibrary.org/obo/GO_0005222 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030552 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0030553 | http://purl.obolibrary.org/obo/GO_0005223 | 7682292 | 34699778 | | 20890309 | 34699778 | | 24164424,34699778 | 24164424,34699778 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_1200373 NANDO:1200373 指定難病 Designated intractable disease 特発性大腿骨頭壊死症 Idiopathic osteonecrosis of femoral head MONDO:0012126 exactMatch http://glycosmos.org/glycogene/1312 1312 COMT O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0008171 | http://purl.obolibrary.org/obo/GO_0016206 | http://purl.obolibrary.org/obo/GO_0008168 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/1387 1387 CREBBP histone H3K18 acetyltransferase activity | histone H2AK9 acetyltransferase activity | histone H4K16 acetyltransferase activity | histone H3K122 acetyltransferase activity | chromatin binding | acetyltransferase activity | protein-containing complex binding | DNA-binding transcription factor binding | histone H3K4 acetyltransferase activity | p53 binding | RNA polymerase II-specific DNA-binding transcription factor binding | histone H3K56 acetyltransferase activity | histone acetyltransferase activity | tau protein binding | transcription corepressor activity | histone H3K14 acetyltransferase activity | histone H4K8 acetyltransferase activity | peptide lactyltransferase activity | histone H3K27 acetyltransferase activity | histone H3K9 acetyltransferase activity | histone H2AK5 acetyltransferase activity | protein binding | chromatin DNA binding | peptide-lysine-N-acetyltransferase activity | peptide N-acetyltransferase activity | zinc ion binding | histone H4K12 acetyltransferase activity | histone H3K36 acetyltransferase activity | MRF binding | histone H4K5 acetyltransferase activity | transcription coactivator activity | histone H2BK12 acetyltransferase activity | transcription coactivator binding | histone H3K23 acetyltransferase activity | damaged DNA binding | histone H2BK5 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0036408 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0120300 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0034212 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0043426 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0044014 21131905 | | | | 24939902 | 11742995,12456660,15273251,16135789,24939902 | | 15509593,15674325 | | 9194565 | 11001584,16043483,21539536 | | 10362258,11742995 | 28386764 | 21539536 | | | 38128537 | 21131905 | | | 10049825,10196247,10347196,10428834,10722728,10722738,10823891,10866662,11568182,11799127,11897665,11940655,12435739,12482968,14645221,14716005,14759370,15075319,15126506,15220471,15273251,16043483,16154084,16291753,16611888,16799563,17075044,17362989,17382325,17500595,17761676,17923090,18250304,18309294,18316612,18836453,19234109,19805293,20541699,20541704,20581830,21483817,21602890,21670263,21751375,21903422,23273993,23434580,23441852,23746807,24207024,24361270,24939902,25314079,25609649,28128295,28680062,28790157,30540930,33640491,33894414,35140242,39009827,8684459,9018065,9194564,9323138,9687513,9811832,9887100 | | 24207024,28386764,28790157,30540930,34239064,35675826 | | | | | 8621548 | | 10362258,11001584,12169688,12435739,12586840,12929931,14645221,8684459 | | 11349124 | | 24939902 | http://nanbyodata.jp/ontology/NANDO_1200461 NANDO:1200461 指定難病 Designated intractable disease ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome MONDO:0019188 exactMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_1200263 NANDO:1200263 指定難病 Designated intractable disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_1200161 NANDO:1200161 指定難病 Designated intractable disease シスチン症 Cystinosis MONDO:0016239 exactMatch http://glycosmos.org/glycogene/1509 1509 CTSD peptidase activity | cysteine-type endopeptidase activity | aspartic-type endopeptidase activity | protein binding | aspartic-type peptidase activity http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004197 | http://purl.obolibrary.org/obo/GO_0004190 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070001 16997486,17188016 | | | 17112520,28493053,32814053 | http://nanbyodata.jp/ontology/NANDO_1200150 NANDO:1200150 指定難病 Designated intractable disease セロイドリポフスチノーシス Neuronal ceroid-lipofuscinosis MONDO:0016295 exactMatch http://glycosmos.org/glycogene/1536 1536 CYBB protein heterodimerization activity | NADPH binding | metal ion binding | superoxide-generating NAD(P)H oxidase activity | electron transfer activity | FAD binding | superoxide-generating NADPH oxidase activity | heme binding | voltage-gated proton channel activity | flavin adenine dinucleotide binding | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070402 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016175 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0071949 | http://purl.obolibrary.org/obo/GO_0106292 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030171 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 12042318 | 36413210,38355798 | | 12042318,12716910 | 12042318 | 36413210,38355798 | 15338276,36241643,36413210,38355798 | 9774399 | 11477065,12034764 | 9774399 | 22808130,28351984,32296183,3305576 http://nanbyodata.jp/ontology/NANDO_1200357 NANDO:1200357 指定難病 Designated intractable disease 慢性肉芽腫症 Chronic granulomatous disease MONDO:0018305 exactMatch http://glycosmos.org/glycogene/138050 138050 HGSNAT acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019 19823584,20650889 | http://nanbyodata.jp/ontology/NANDO_1200100 NANDO:1200100 指定難病 Designated intractable disease サンフィリッポ症候群 Sanfilippo disease MONDO:0018937 exactMatch http://glycosmos.org/glycogene/138050 138050 HGSNAT acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019 19823584,20650889 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/165918 165918 RNF168 histone binding | chromatin binding | K63-linked polyubiquitin modification-dependent protein binding | histone H2AK15 ubiquitin ligase activity | ubiquitin binding | zinc ion binding | metal ion binding | protein binding | histone ubiquitin ligase activity | ubiquitin-protein transferase activity | nucleosome binding http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0070530 | http://purl.obolibrary.org/obo/GO_0140858 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140852 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0031491 19203578,19203579,23760478 | 19203578,19203579,19500350 | 19500350,21041483,22742833 | 27153538 | 19203578,19203579 | | | 15231748,19203578,22373579,26503038,32296183,32814053 | 19500350 | 19203578,19203579,22373579,22980979,23760478 | 22742833 http://nanbyodata.jp/ontology/NANDO_1200336 NANDO:1200336 指定難病 Designated intractable disease RIDDLE症候群 RIDDLE syndrome MONDO:0012764 exactMatch http://glycosmos.org/glycogene/1785 1785 DNM2 SH3 domain binding | microtubule binding | GTP binding | GTPase activity | enzyme binding | protein binding | membrane scission GTPase motor activity | phosphatidylinositol-4,5-bisphosphate binding http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990606 | http://purl.obolibrary.org/obo/GO_0005546 18388313 | 7590285 | 7590285 | 11583995,34744632 | 11583995 | 11583995,15703209,16325581,16551695,16636290,16696976,17257598,17412836,17676042,18353773,18388313,18480402,19380743,20711168,21706016,21900206,21988832,22022388,22623184,24970086,27107012,29437695,31980649,32296183,32315611,32814053,33961781,35271311 | | 34744632 http://nanbyodata.jp/ontology/NANDO_1200016 NANDO:1200016 指定難病 Designated intractable disease シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease MONDO:0015626 exactMatch http://glycosmos.org/glycogene/24 24 ABCA4 ATP binding | phospholipid transporter activity | retinol transmembrane transporter activity | N-retinylidene-phosphatidylethanolamine flippase activity | ABC-type transporter activity | 11-cis retinal binding | flippase activity | ATPase-coupled transmembrane transporter activity | phosphatidylethanolamine flippase activity | all-trans retinal binding | GTPase activity | ATP hydrolysis activity | ATPase-coupled intramembrane lipid transporter activity | retinoid binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0034632 | http://purl.obolibrary.org/obo/GO_0140347 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005502 | http://purl.obolibrary.org/obo/GO_0140327 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0090555 | http://purl.obolibrary.org/obo/GO_0005503 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0005501 | | | | | 23144455 | 24097981 | | 24097981 | 20404325,29847635,33375396 | | 29847635,33375396 | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/10000 10000 AKT3 3-phosphoinositide-dependent protein kinase activity | histone H4S1 kinase activity | DNA-dependent protein kinase activity | histone H2BS14 kinase activity | histone H2BS36 kinase activity | histone H3T6 kinase activity | ATP binding | histone H3T45 kinase activity | histone H2AS121 kinase activity | histone H3T11 kinase activity | ribosomal protein S6 kinase activity | histone H2AXS139 kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | histone H3S28 kinase activity | histone H3T3 kinase activity | protein binding | histone H2AS1 kinase activity | protein kinase activity | Rho-dependent protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | AMP-activated protein kinase activity | histone H3S57 kinase activity | histone H3S10 kinase activity http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035175 | | | | | | 16540465 | | | | | | 16540465 | | | | 12176997,17544405,19713527,20059950,25036637,25241761,33961781 | | 10092583 | | | | | | http://nanbyodata.jp/ontology/NANDO_1200563 NANDO:1200563 指定難病 Designated intractable disease 片側巨脳症 Hemimegalencephaly MONDO:0020492 exactMatch http://glycosmos.org/glycogene/3730 3730 ANOS1 protein binding | heparin binding | serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005201 19696444,32296183 | | | 8842728 http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_1200462 NANDO:1200462 指定難病 Designated intractable disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_1200236 NANDO:1200236 指定難病 Designated intractable disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_1200236 NANDO:1200236 指定難病 Designated intractable disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_1200236 NANDO:1200236 指定難病 Designated intractable disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3949 3949 LDLR amyloid-beta binding | low-density lipoprotein particle receptor activity | molecular adaptor activity | low-density lipoprotein particle binding | very-low-density lipoprotein particle receptor activity | protease binding | identical protein binding | clathrin heavy chain binding | lipoprotein particle binding | protein binding | calcium ion binding | virus receptor activity http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005041 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0030229 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0032050 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001618 | 20005821,22848640,6091915,6299582,8626535 | 22091758 | 6299582 | 8626535 | 22081141,22848640 | 26526611 | 12121421 | | 10571240,12221107,17452316,17461796,18250299,18753623,20030366,20223219,22081141,22509010,23589850,24447298,25613181,28514442,30443021,32296183,33420426,33961781 | | http://nanbyodata.jp/ontology/NANDO_1200394 NANDO:1200394 指定難病 Designated intractable disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_1200142 NANDO:1200142 指定難病 Designated intractable disease 酸性リパーゼ欠損症 Acid lipase deficiency MONDO:0019148 closeMatch http://glycosmos.org/glycogene/10461 10461 MERTK ATP binding | epidermal growth factor receptor activity | GPI-linked ephrin receptor activity | protein tyrosine kinase collagen receptor activity | vascular endothelial growth factor receptor activity | protein binding | transmembrane receptor protein tyrosine kinase activity | boss receptor activity | insulin receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | transmembrane-ephrin receptor activity | fibroblast growth factor receptor activity | insulin-like growth factor receptor activity | brain-derived neurotrophic factor receptor activity | placental growth factor receptor activity | platelet-derived growth factor beta-receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | | | | | 20103767 | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/10002 10002 NR2E3 DNA-binding transcription activator activity, RNA polymerase II-specific | nuclear receptor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding | zinc ion binding | nuclear steroid receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003707 | http://purl.obolibrary.org/obo/GO_0005515 22174013 | | 10220376 | 10220376 | | | 32296183 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_1200471 NANDO:1200471 指定難病 Designated intractable disease 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/6870 6870 TACR3 tachykinin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0004995 | http://purl.obolibrary.org/obo/GO_0005515 | 12716968,23597562 http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/6892 6892 TAPBP protein folding chaperone | unfolded protein binding | TAP2 binding | peptide antigen binding | protein binding | TAP1 binding | TAP complex binding | molecular adaptor activity | MHC class I protein binding | MHC class I protein complex binding http://purl.obolibrary.org/obo/GO_0044183 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0046979 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046978 | http://purl.obolibrary.org/obo/GO_0062061 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0023024 36104323 | 12788224 | 12047747,12788224,22638925 | 12788224 | 12213826,15793001,17055437,18802093,19201886,22810586 | 12047747,12788224,22638925 | 17947644 | 17947644 | 12788224 | http://nanbyodata.jp/ontology/NANDO_1200328 NANDO:1200328 指定難病 Designated intractable disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/6925 6925 TCF4 TFIIB-class transcription factor binding | E-box binding | DNA binding | identical protein binding | beta-catenin binding | sequence-specific double-stranded DNA binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0001093 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003700 8978694 | 8978694 | 1681116 | 10903890,25609649 | 29739711 | 28473536 | 10903890,16549780,17318191,17983804,19534813,21103407,21743491,21988832,25402006,25416956,25466284,25609649,25910212,26871637,28051067,28514442,29361949,29892012,31515488,32296183,32814053,33961781,35140242,36217029,37207277,9824680 | 12651860,8978694 | | 8978694 | 8978694 | 11802795,2105528 http://nanbyodata.jp/ontology/NANDO_1200440 NANDO:1200440 指定難病 Designated intractable disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/49855 49855 SCAPER protein binding | nucleic acid binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0008270 17698606,32814053 | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/64581 64581 CLEC7A metal ion binding | (1->3)-beta-D-glucan binding | MHC protein binding | pattern recognition receptor activity | identical protein binding | carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001872 | http://purl.obolibrary.org/obo/GO_0042287 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | 22267217,24721111,25251945 | 11567029 | 11567029 | 32296183 | 11567029 | 21516116,23674515,25416956,31515488,31875558,32296183 http://nanbyodata.jp/ontology/NANDO_1200363 NANDO:1200363 指定難病 Designated intractable disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/64421 64421 DCLRE1C 5'-3' exonuclease activity | damaged DNA binding | endonuclease activity | 5'-3' DNA exonuclease activity | protein binding | single-stranded DNA endodeoxyribonuclease activity http://purl.obolibrary.org/obo/GO_0008409 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0004519 | http://purl.obolibrary.org/obo/GO_0035312 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000014 11955432 | | | | 22529269,23219551,23523427,25941166,28780862,33961781 | 11955432 http://nanbyodata.jp/ontology/NANDO_1200324 NANDO:1200324 指定難病 Designated intractable disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/115650 115650 TNFRSF13C signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 "" http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/23495 23495 TNFRSF13B protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 10801128,10880535,10956646,20676093,25416956,25910212,32296183 | 9311921 http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/50939 50939 IMPG2 heparin binding | hyaluronic acid binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005540 | http://purl.obolibrary.org/obo/GO_0005201 | 10702256 | 10702256 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/346007 346007 EYS calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/23418 23418 CRB1 protein binding | calcium ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 11927608,15914641,17920587,33758649 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/84140 84140 FAM161A microtubule binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 22791751 | 22791751,25416956,32296183 | 22791751,22940612,25018096,25416956,26638075,27107012,29892012,31515488,32296183,32814053,33961781,36233334 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/60509 60509 AGBL5 metallocarboxypeptidase activity | tubulin binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0004181 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0008270 | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/23020 23020 SNRNP200 helicase activity | identical protein binding | RNA helicase activity | RNA binding | ATP binding | protein binding | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003724 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 9539711 | 22365833 | 23045696,35241646 | 22658674,22681889 | | 16723661,16730941,17332742,18951082,22365833,22720776,23704370,23793891,27173435,28514442,28838205,32296183,33961781,34790668,35241646,35271311,39251607,9774689 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/2033 2033 EP300 histone H3K18 acetyltransferase activity | acyltransferase activity | nuclear androgen receptor binding | histone H2BK5 acetyltransferase activity | tau protein binding | zinc ion binding | histone H3K56 acetyltransferase activity | histone acetyltransferase activity | histone lactyltransferase activity | lysine N-acetyltransferase activity, acting on acetyl phosphate as donor | histone H3K27 acetyltransferase activity | acetylation-dependent protein binding | protein binding | histone H3 acetyltransferase activity | histone H2AK9 acetyltransferase activity | protein propionyltransferase activity | DNA-binding transcription factor binding | histone H3K4 acetyltransferase activity | pre-mRNA intronic binding | peptide-lysine-N-acetyltransferase activity | damaged DNA binding | chromatin DNA binding | histone H4K12 acetyltransferase activity | histone H3K36 acetyltransferase activity | histone butyryltransferase activity | histone H2BK12 acetyltransferase activity | transcription coactivator activity | chromatin binding | histone H2B acetyltransferase activity | transcription coregulator binding | histone H3K23 acetyltransferase activity | NF-kappaB binding | peptide butyryltransferase activity | histone H4K16 acetyltransferase activity | beta-catenin binding | histone H4K5 acetyltransferase activity | peptide N-acetyltransferase activity | DNA binding | nuclear receptor binding | histone H3K122 acetyltransferase activity | p53 binding | RNA polymerase II-specific DNA-binding transcription factor binding | peptide 2-hydroxyisobutyryltransferase activity | histone H2AK5 acetyltransferase activity | histone H3K9 acetyltransferase activity | histone H4K8 acetyltransferase activity | acetyltransferase activity | protein-containing complex binding | histone H4 acetyltransferase activity | histone H3K14 acetyltransferase activity | transcription coactivator binding | STAT family protein binding | histone crotonyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0044014 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0120301 | http://purl.obolibrary.org/obo/GO_0004468 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0140033 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0010484 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0061920 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0097157 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0140069 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0044013 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0140065 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0034212 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0106226 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0036408 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0140068 21131905 | 17403783 | 18487222 | | 28386764 | | | 10362258,12040021,14645221,25818647 | 31645732 | 20019387 | 21131905,32691935 | 18782771 | 10049825,10330164,10518217,10702269,10722728,11029584,11073990,11430825,11511361,11581164,11909954,11940591,11940655,12368347,12435739,12527917,12586840,12743606,12750254,12929931,1331501,14645221,14716005,14752053,14759370,15075319,15261140,15380363,15509808,15542844,15588252,15632193,15843474,15890677,16611888,16652169,16760386,16864582,16917507,17075044,17150957,17382325,17403783,17438265,17476304,17872950,17906639,18160048,18268343,18391200,18451878,18485870,18509338,18690848,18722353,19047049,19064921,19071119,19217391,19218448,19234109,19339993,19680224,20019387,20089040,20228809,20603618,20609350,20660480,20808282,20856196,21108945,21471221,21513714,21988832,22770219,23010591,23145062,23441852,23455922,23461825,23746844,23811396,23870121,23999430,24229708,24413532,24421387,24939902,25219498,25245946,25314079,25519132,25651062,26302407,26751287,26983400,27018634,28128295,28514442,33961781,34637754,8684459,9018065,9194564,9194565,9811832,9881977,9887100 | 12609999,27256286 | | 17267393 | 15261140,15674325,20590529 | | | 15653507,15919823,16285960,18782771,22084251,23962722,24120661,28262505,30193097,30197302,32561715 | 24939902 | | | | | | 10362258,10518217,11349124,11940591,12435739,12586840,12609999,12929931,15261140,16257975,16687403,17641689,18487222,23811396 | 17641689,24939902,25818647 | 10821277 | 8684459 | | 23811396 | 17267393,29775581 | | 12408825 | | | 9194565 | 9862959 | 23415232 | | 20018936,23329847 | | | | | 12435739,12456660,16135789,18722353,20228809,21084751,23811396,24939902 | | 10821277,12609999,16325578 | | 11349124 | 26479788 | 25818647 http://nanbyodata.jp/ontology/NANDO_1200461 NANDO:1200461 指定難病 Designated intractable disease ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome MONDO:0019188 exactMatch http://glycosmos.org/glycogene/2153 2153 F5 copper ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | 2844223,28514442,33961781,6323392,9556620 http://nanbyodata.jp/ontology/NANDO_1200437 NANDO:1200437 指定難病 Designated intractable disease バッド・キアリ症候群 Budd-Chiari syndrome MONDO:0010947 exactMatch http://glycosmos.org/glycogene/2253 2253 FGF8 type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0005105 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0042056 16384934 | 16384934 | 17265164,8891346 | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/2717 2717 GLA protein binding | signaling receptor binding | protein homodimerization activity | catalytic activity | hydrolase activity | galactoside binding | alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003824 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0004557 1332979,21949853,33961781,6313412 | 1332979 | 6256390 | 39940 | 7911050 | | 10838196,16372133,27211852,39940,8804427 http://nanbyodata.jp/ontology/NANDO_1200157 NANDO:1200157 指定難病 Designated intractable disease ファブリー病 Fabry disease MONDO:0010526 exactMatch http://glycosmos.org/glycogene/6890 6890 TAP1 MHC class I protein binding | protein homodimerization activity | ABC-type peptide antigen transporter activity | peptide transmembrane transporter activity | MHC class Ib protein binding | metal ion binding | TAP2 binding | TAP1 binding | ADP binding | protein binding | peptide antigen binding | ATP hydrolysis activity | ATP binding http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015433 | http://purl.obolibrary.org/obo/GO_1904680 | http://purl.obolibrary.org/obo/GO_0023029 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0046979 | http://purl.obolibrary.org/obo/GO_0046978 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | | 11133832,17418234,25377891,25656091,7673167 | 17418234 | 10605026 | | 11133832,1538751,15518576 | | 11532960 | 12213826,15793001,16828748,17055437,18802093,19165146,19201886,19297616,22810586,26789246,28514442,30833792,32296183,33961781 | 11133832,7500034 | | 11133832,15793001,7673167 http://nanbyodata.jp/ontology/NANDO_1200328 NANDO:1200328 指定難病 Designated intractable disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/2798 2798 GNRHR gonadotropin-releasing hormone receptor activity | peptide binding http://purl.obolibrary.org/obo/GO_0004968 | http://purl.obolibrary.org/obo/GO_0042277 | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/2812 2812 GP1BB identical protein binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 18674540 | 3353370 | 11943773,18674540,18789323,4044584 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/2859 2859 GPR35 C-X-C chemokine receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0016494 | http://purl.obolibrary.org/obo/GO_0004930 25411203,29068046,29875152 | 16754668,17940199 http://nanbyodata.jp/ontology/NANDO_1200440 NANDO:1200440 指定難病 Designated intractable disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/4282 4282 MIF identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005126 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0050178 | http://purl.obolibrary.org/obo/GO_0004167 20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494 http://nanbyodata.jp/ontology/NANDO_1200469 NANDO:1200469 指定難病 Designated intractable disease 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 exactMatch http://glycosmos.org/glycogene/4282 4282 MIF identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005126 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0050178 | http://purl.obolibrary.org/obo/GO_0004167 20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494 http://nanbyodata.jp/ontology/NANDO_1200470 NANDO:1200470 指定難病 Designated intractable disease 全身型若年性特発性関節炎 Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/4359 4359 MPZ structural molecule activity http://purl.obolibrary.org/obo/GO_0005198 7693129 http://nanbyodata.jp/ontology/NANDO_1200016 NANDO:1200016 指定難病 Designated intractable disease シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease MONDO:0015626 exactMatch http://glycosmos.org/glycogene/4485 4485 MST1 protein binding | endopeptidase activity | serine-type endopeptidase activity | histone kinase activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0035173 | http://purl.obolibrary.org/obo/GO_0030971 22087277,25193665,32296183 | | | | 22087277 http://nanbyodata.jp/ontology/NANDO_1200440 NANDO:1200440 指定難病 Designated intractable disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/4615 4615 MYD88 protein binding | interleukin-1 receptor binding | ATP-dependent histone chaperone activity | Toll-like receptor binding | death receptor binding | Toll binding | identical protein binding | signaling adaptor activity | molecular adaptor activity | TIR domain binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005149 | http://purl.obolibrary.org/obo/GO_0140674 | http://purl.obolibrary.org/obo/GO_0035325 | http://purl.obolibrary.org/obo/GO_0005123 | http://purl.obolibrary.org/obo/GO_0005121 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0070976 10880445,11544529,12860405,15728506,16189514,16293622,16365431,17126326,17258210,17567694,17583698,19948740,20485341,20676093,20696886,21334391,21829704,21988832,22155231,22581261,23143332,24316379,25416956,25502805,25910212,26592460,26752465,26871637,28514442,29281743,29990310,31515488,32296183,33961781,36232715 | | | | 9374458 | | 11544529,17258210,21516116,21988832,22155231,25416956,25910212,27107012,29892012,32296183 | 16751103 | 16751103,9430229,9734363 | 19509286 http://nanbyodata.jp/ontology/NANDO_1200362 NANDO:1200362 指定難病 Designated intractable disease MyD88欠損症 MyD88 deficiency MONDO:0012839 exactMatch http://glycosmos.org/glycogene/4683 4683 NBN protein serine/threonine kinase activator activity | DNA-binding transcription factor binding | phosphorylation-dependent protein binding | protein binding | chromatin-protein adaptor activity | histone binding | damaged DNA binding http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140463 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003684 16622404 | 11486038 | 18411307,18582474,18583988,18678890,19804756,24534091,27814491,30787182 | 12419185,12470659,12607005,15916964,16377563,17500065,17612497,18001824,18001825,18583988,18678890,19609304,19683501,19759395,19804756,20224574,21108945,22078559,22157895,22565321,24534091,24651726,24981860,25064736,25558984,25895060,26869104,27568553,29656893,9590181 | 18411307,18583988,19804756,24534091,27814491,27889449,28216226,30787182,38961290 | 19338747 | 9590180 http://nanbyodata.jp/ontology/NANDO_1200296 NANDO:1200296 指定難病 Designated intractable disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/4763 4763 NF1 GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031210 1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824 http://nanbyodata.jp/ontology/NANDO_1200225 NANDO:1200225 指定難病 Designated intractable disease 神経線維腫症 Neurofibromatosis MONDO:0018975 closeMatch http://glycosmos.org/glycogene/4763 4763 NF1 GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031210 1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824 http://nanbyodata.jp/ontology/NANDO_1200226 NANDO:1200226 指定難病 Designated intractable disease 神経線維腫症I型 Neurofibromatosis type 1 MONDO:0018975 exactMatch http://glycosmos.org/glycogene/4790 4790 NFKB1 transcription coactivator binding | DNA-binding transcription factor activity | chromatin binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coregulator activity | identical protein binding | DNA-binding transcription factor activity, RNA polymerase II-specific | actinin binding | protein sequestering activity http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0140311 23811396 | 17426251,8413223 | | 10023675,10498867,11297557,11526476,11931769,12482991,12832462,14624448,14743216,15169888,15799966,16108830,16306601,16319921,17003112,18045535,18212740,19350539,19358846,20195357,20237821,20547752,21270162,21483817,21988832,22808155,23636254,24634218,25241761,25609649,25852190,26496610,32814053,33961781,35140242,35271311,7651415,8196632,8246997,8441377,9865693 | 1406630,16938301,23811396,34721373 | 16938301,17426251,18718911 | 7959007 | 24434510 | 1406630,23811396,26801246 | | 12482991,12832462,21988832,25609649 | 17426251,26801246 | 25411248 | http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/4791 4791 NFKB2 DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 1760839,1876189 | 28473536 | 11239468,11526476,14743216,16108830,18617892,21988832,25609649,25852190,28514442,33961781,35140242,35271311,8441377 | 12835724 | | 12835724 http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/4860 4860 PNP protein binding | purine-nucleoside phosphorylase activity | purine nucleobase binding | guanosine phosphorylase activity | nucleoside binding | identical protein binding | phosphate ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004731 | http://purl.obolibrary.org/obo/GO_0002060 | http://purl.obolibrary.org/obo/GO_0047975 | http://purl.obolibrary.org/obo/GO_0001882 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042301 32814053 | 16930574,16964310,18938130,23438750,3029074,6771276,9305962 | 9305962 | | 9305962 | 20212140,25502805,31515488,32296183 | 18938130 http://nanbyodata.jp/ontology/NANDO_1200325 NANDO:1200325 指定難病 Designated intractable disease プリンヌクレオシドホスホリラーゼ欠損症 Purine nucleoside phosphorylase deficiency MONDO:0013171 exactMatch http://glycosmos.org/glycogene/9632 9632 SEC24C zinc ion binding | SNARE binding | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0005515 18843296 | 18843296 | 10075675,15899885,16189514,17428803,18692470,25416956,30842662,31515488,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/7015 7015 TERT telomerase activity | protein-folding chaperone binding | template-free RNA nucleotidyltransferase | RNA-directed DNA polymerase activity | protein homodimerization activity | metal ion binding | telomeric DNA binding | telomerase RNA binding | RNA-dependent RNA polymerase activity | RNA binding | identical protein binding | transcription coactivator binding | protein binding | tRNA binding | DNA binding http://purl.obolibrary.org/obo/GO_0003720 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0098680 | http://purl.obolibrary.org/obo/GO_0003964 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042162 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0003968 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0003677 11927518,12135483,14991929,16043710,16507993,17940095,18082603,21531765,23474713,23784080,29695869,9398860,9443919 | 10197982,19751963 | 19701182 | 21937513,25569094 | 11432839,23474713 | | | 11432839,16507993,17940095,18082603,19701182,20351177 | 19701182 | 16507993,17940095,18082603,19701182,20351177 | 23474713 | 19571879 | 11701125,12377759,12699629,15044100,15381700,17237767,17940095,18082603,18358808,19179534,19487455,19567472,19571879,19843693,21119197,21829167,21846770,22011238,22226966,24550003,25172512,25589350,28255170 | 21937513 | 21937513 http://nanbyodata.jp/ontology/NANDO_1200296 NANDO:1200296 指定難病 Designated intractable disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/355 355 FAS calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 24914971 | 21382479,7536190,7538908 | 12221075 | 7533181 | 7538908 | 10918185,11003656,11495919,11606059,12724420,12887920,15465831,15917238,16498403,17047155,17159907,18328427,18846110,19118384,20935634,20956295,21109225,21382479,21625644,21713032,21803845,25241761,26942442,33961781,7536190,7538907 http://nanbyodata.jp/ontology/NANDO_1200352 NANDO:1200352 指定難病 Designated intractable disease 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome MONDO:0017979 exactMatch http://glycosmos.org/glycogene/356 356 FASLG signaling receptor binding | death receptor binding | cytokine activity | tumor necrosis factor receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005123 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005515 7826947 | | 9333124 | | 12198154,12887920,16318909,16498403,16595635,17761170,19807924,21803845,24025841,25241761,25416956,26871637,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200352 NANDO:1200352 指定難病 Designated intractable disease 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome MONDO:0017979 exactMatch http://glycosmos.org/glycogene/221037 221037 JMJD1C dioxygenase activity | protein binding | chromatin DNA binding | metal ion binding | zinc ion binding | nuclear thyroid hormone receptor binding | transcription coregulator activity | histone H3K9 demethylase activity http://purl.obolibrary.org/obo/GO_0051213 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0032454 | 17353003,33640491 | | | | 7776974 | | http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/7248 7248 TSC1 Hsp70 protein binding | protein-folding chaperone binding | protein folding chaperone | ATPase inhibitor activity | Hsp90 protein binding | protein binding http://purl.obolibrary.org/obo/GO_0030544 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0044183 | http://purl.obolibrary.org/obo/GO_0042030 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0005515 29127155 | 10585443 | 10585443 | 29127155 | 29127155 | 10585443,10806479,12226091,17355907,17658474,17693255,18381890,18692468,20368287,20412061,21134130,21653829,25263562,26893383,28514442,28561026,33436626,33961781,38890443,9580671,9809973 http://nanbyodata.jp/ontology/NANDO_1200430 NANDO:1200430 指定難病 Designated intractable disease リンパ脈管筋腫症 Lymphangioleiomyomatosis MONDO:0011705 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_1200430 NANDO:1200430 指定難病 Designated intractable disease リンパ脈管筋腫症 Lymphangioleiomyomatosis MONDO:0011705 exactMatch http://glycosmos.org/glycogene/7275 7275 TUB G protein-coupled receptor binding | protein-containing complex binding | intraciliary transport particle A binding http://purl.obolibrary.org/obo/GO_0001664 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0120160 28154160 | 20889716 | 28154160 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/7353 7353 UFD1 protein binding | cysteine-type deubiquitinase activity | polyubiquitin modification-dependent protein binding | K48-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0036435 11574150,17681147,18775313,20414249,21645854,25959826,26712280,32296183,32814053,33961781,35271311 | 9063746 | | http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/57674 57674 RNF213 ubiquitin protein ligase activity | protein binding | chromatin extrusion motor activity | ATP-dependent H3-H4 histone complex chaperone activity | cohesin loader activity | ATP-dependent H2AZ histone chaperone activity | zinc ion binding | ATP binding | ATP hydrolysis activity | ubiquitin-protein transferase activity | DNA clamp loader activity | metal ion binding http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0046872 32139119,33842849 | 25416956 | | | | | | | 21799892,24658080,26126547 | 21799892,26766444 | | http://nanbyodata.jp/ontology/NANDO_1200183 NANDO:1200183 指定難病 Designated intractable disease もやもや病 Moyamoya disease MONDO:0016820 exactMatch http://glycosmos.org/glycogene/92211 92211 CDHR1 calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/94137 94137 RP1L1 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/9785 9785 DHX38 protein binding | RNA binding | ATP hydrolysis activity | cohesin loader activity | DNA clamp loader activity | RNA helicase activity | 3'-5' RNA helicase activity | ATP binding | ATP-dependent H2AZ histone chaperone activity | chromatin extrusion motor activity | ATP-dependent H3-H4 histone complex chaperone activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0003724 | http://purl.obolibrary.org/obo/GO_0034458 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0140665 21044950,22365833,25036637,33961781 | 22681889 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/9129 9129 PRPF3 RNA binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 22681889 | 15314151,16189514,16723661,17332742,20595234,21516116,22365833,25383878,25416956,25910212,26030138,28514442,32296183,33961781,35271311,39251607 | 22365833 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/9128 9128 PRPF4 U6 snRNA binding | protein binding | U4 snRNA binding http://purl.obolibrary.org/obo/GO_0017070 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030621 | 16723661,19615732,22365833,23793891,25383878,26030138,28935721,29997244,33961781,9570313 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/84818 84818 IL17RC signaling receptor binding | coreceptor activity | protein binding | interleukin-17 receptor activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 | 20554964 | 24120361,28827714 | 17911633 http://nanbyodata.jp/ontology/NANDO_1200363 NANDO:1200363 指定難病 Designated intractable disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/55624 55624 POMGNT1 acetylglucosaminyltransferase activity | protein binding | carbohydrate binding | beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity | manganese ion binding http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0047223 | http://purl.obolibrary.org/obo/GO_0030145 26908613,27391550,27493216 | 17034757,25416956,28514442,29892012,32296183,32707033,33961781 | | 11742540 | 27493216 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/123016 123016 TTC8 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 14520415,16327777,17574030,18762586,24550735,24939912,25552655 | 22302990 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_1200324 NANDO:1200324 指定難病 Designated intractable disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/57670 57670 KIAA1549 protein binding http://purl.obolibrary.org/obo/GO_0005515 37207277 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/135 135 ADORA2A protein-containing complex binding | G protein-coupled adenosine receptor activity | enzyme binding | identical protein binding | protein binding | type 5 metabotropic glutamate receptor binding | lipid binding | alpha-actinin binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001609 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031802 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0005516 | 21393508,21593763 | 16339847 | 18675812,19013155,29568380 | 11571652,12189203,16027149,16339847,16481441,17356572,17689978,19694902,23296780,28102227,28298427,28734904,29568380,31286866,32296183 | | 25692595 | | 25692595 http://nanbyodata.jp/ontology/NANDO_1200552 NANDO:1200552 指定難病 Designated intractable disease 痙攣重積型（二相性）急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 exactMatch http://glycosmos.org/glycogene/57709 57709 SLC7A14 gamma-aminobutyric acid transmembrane transporter activity | protein binding | amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015185 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015171 | 32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/196 196 AHR DNA-binding transcription factor activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | E-box binding | DNA binding | protein heterodimerization activity | nuclear receptor activity | protein homodimerization activity | TFIID-class transcription factor complex binding | sequence-specific double-stranded DNA binding | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | transcription cis-regulatory region binding | TBP-class protein binding | transcription coactivator binding | Hsp90 protein binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0017025 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0051879 | 23275542 | 11782478,28602820 | | 15681594,19538249 | 28602820,34521881 | 10395741,28602820,32818467,32866000,34521881 | | 15641800 | 28602820,34521881 | 10395741,16257957,28514442,28602820,33961781,34521881,9079689,9704006 | 9079689 | 15681594 | 15641800 | 15641800 | 9079689 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/84634 84634 KISS1R neuropeptide receptor activity | protein binding | G protein-coupled peptide receptor activity http://purl.obolibrary.org/obo/GO_0008188 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008528 11387329 | 11387329,18772143,18977201 | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/7290 7290 HIRA nucleosome binding | transcription corepressor activity | RNA polymerase II-specific DNA-binding transcription factor binding | histone binding | protein binding http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0005515 | 9731536 | 9731536 | 9731536 | 11342215,16980972,19029251,24981860,26496610,33961781,9710638 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/9394 9394 HS6ST1 heparan sulfate 6-O-sulfotransferase activity | sulfotransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0017095 | http://purl.obolibrary.org/obo/GO_0008146 | http://purl.obolibrary.org/obo/GO_0005515 | 9535912 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/23765 23765 IL17RA protein binding | interleukin-17 receptor activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 | http://purl.obolibrary.org/obo/GO_0005102 21993848,23695682,24120361,28827714,32353859,33060197,33723527 | 27184415,33723527,9367539 | http://nanbyodata.jp/ontology/NANDO_1200363 NANDO:1200363 指定難病 Designated intractable disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/338 338 APOB lipase binding | cholesterol transfer activity | low-density lipoprotein particle receptor binding | phospholipid binding | protein binding | receptor ligand activity | heparin binding http://purl.obolibrary.org/obo/GO_0035473 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0008201 9685400 | 15797858 | 15797858,2563166,27477018 | 7126555 | 16203724,21911577,22580899,24447298,25108285,26224785,27138255,27487388,8245722 | 27477018 | 16233946 http://nanbyodata.jp/ontology/NANDO_1200394 NANDO:1200394 指定難病 Designated intractable disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_1200165 NANDO:1200165 指定難病 Designated intractable disease 副腎白質ジストロフィー Adrenoleukodystrophy MONDO:0018544 exactMatch http://glycosmos.org/glycogene/367 367 AR signaling receptor binding | POU domain binding | nuclear receptor activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | androgen binding | estrogen response element binding | steroid binding | enzyme binding | G protein-coupled receptor activity | DNA-binding transcription factor activity | transcription cis-regulatory region binding | RNA polymerase II general transcription initiation factor binding | chromatin binding | ATPase binding | RNA polymerase II core promoter sequence-specific DNA binding | zinc ion binding | protein binding | transcription coactivator binding | molecular adaptor activity | beta-catenin binding | RNA polymerase II-specific DNA-binding transcription factor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | molecular condensate scaffold activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0070974 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005497 | http://purl.obolibrary.org/obo/GO_0034056 | http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001091 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140693 11875111 | | 12799378,15572661,17277772,19244107,19345326,19886863,20048160,25091737 | | 16728402,25802280 | 12799378,25091737,3353726 | | | 17277772,17587566 | 22031296 | 11477070,15572661 | 12799378,18487222,19886863 | 20181722 | 21730289 | 12058073 | | | 10075738,10930412,10987273,11477070,12864730,14645241,15563469,15572661,16027218,16051670,16120611,16461912,16494870,16724108,16951154,17108144,17170703,17183365,17202144,17353003,17426252,17510388,17909037,18332867,18451096,18451177,18487222,18640093,19345326,19481544,19574450,19909775,20478527,20501646,20541699,20812024,21172304,21242980,21454491,21512132,21730179,21741601,21885566,22170608,22187462,22531786,22722839,23260764,23518348,23566155,23887938,24728074,24759320,25091737,26175416,27185910,33640491 | 10428808 | 11896058 | 12799378,16344550 | 12799378,16120611 | 16728402,25802280 | 33978290,36229685 http://nanbyodata.jp/ontology/NANDO_1200001 NANDO:1200001 指定難病 Designated intractable disease 球脊髄性筋萎縮症 Spinal and bulbar muscular atrophy MONDO:0010735 exactMatch http://glycosmos.org/glycogene/659 659 BMPR2 activin receptor activity, type I | transforming growth factor beta receptor activity, type II | transforming growth factor beta receptor activity | BMP binding | protein tyrosine kinase binding | cadherin binding | ATP binding | transforming growth factor beta receptor activity, type I | protein binding | BMP receptor activity | growth factor binding | activin receptor activity, type II | metal ion binding | transforming growth factor beta receptor activity, type III http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | http://nanbyodata.jp/ontology/NANDO_1200425 NANDO:1200425 指定難病 Designated intractable disease 肺動脈性肺高血圧症 Pulmonary arterial hypertension MONDO:0015924 exactMatch http://glycosmos.org/glycogene/695 695 BTK phosphatidylinositol-3,4,5-trisphosphate binding | ATP binding | phospholipase binding | identical protein binding | metal ion binding | zinc ion binding | protein binding | histone H3Y41 kinase activity | non-membrane spanning protein tyrosine kinase activity | phospholipase activator activity | histone H2AXY142 kinase activity | protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043274 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035401 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0016004 | http://purl.obolibrary.org/obo/GO_0140801 | http://purl.obolibrary.org/obo/GO_0004713 17823121 | 11913944 | 11606584,14656219 | 11577348 | | | 11788586,15046600,15539407,16969585,19214191,22366891,22939624,25825872,25910212,28514442,33961781,8892607,9012831,9571151 | | 11606584,14656219,19290921 | 11606584 | | 11913944,34554188,7518558 http://nanbyodata.jp/ontology/NANDO_1200343 NANDO:1200343 指定難病 Designated intractable disease X連鎖無ガンマグロブリン血症 X-linked agammaglobulinemia MONDO:0010421 exactMatch http://glycosmos.org/glycogene/7399 7399 USH2A identical protein binding | collagen binding | protein binding | myosin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017022 | 14676276 | 16301216,16434480,20440071,23351521 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/7401 7401 CLRN1 protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/7456 7456 WIPF1 SH3 domain binding | profilin binding | protein binding | actin binding | cytoskeletal anchor activity | protein folding chaperone http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0005522 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0008093 | http://purl.obolibrary.org/obo/GO_0044183 19798448 | 9405671 | 10202051,11331876,12029088,12591280,12620186,16488394,16582881,17213309,17606906,19805221,19817875,20936779,21398607,21516116,21706016,21988832,23414517,25416956,28514442,29892012,32296183,33961781,35271311,36935496,9405671 | | 17141616 | 23870269 http://nanbyodata.jp/ontology/NANDO_1200330 NANDO:1200330 指定難病 Designated intractable disease ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome MONDO:0010518 exactMatch http://glycosmos.org/glycogene/762 762 CA4 carbonate dehydratase activity | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0004089 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 15563508 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/55975 55975 KLHL7 ubiquitin ligase-substrate adaptor activity | protein binding | protein homodimerization activity | identical protein binding http://purl.obolibrary.org/obo/GO_1990756 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0042802 | 21145461,21828050,30190310,32814053,33961781,34591642 | 21828050 | 21828050 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/930 930 CD19 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/112744 112744 IL17F cytokine activity | protein heterodimerization activity | cytokine binding | protein homodimerization activity | protein binding | cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005126 11591732 | | 11574464 | 11574464 | 25416956,28827714 | http://nanbyodata.jp/ontology/NANDO_1200363 NANDO:1200363 指定難病 Designated intractable disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/925 925 CD8A MHC class I protein binding | coreceptor activity | protein kinase binding | MHC class I protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0023024 | http://purl.obolibrary.org/obo/GO_0005515 11131152 | 11131152 | | 2784196,9177355 | 12853576,2470098,2493728,9177355 http://nanbyodata.jp/ontology/NANDO_1200326 NANDO:1200326 指定難病 Designated intractable disease CD8欠損症 CD8 deficiency MONDO:0012161 exactMatch http://glycosmos.org/glycogene/51135 51135 IRAK4 histone H4S1 kinase activity | histone H2BS14 kinase activity | histone H3T11 kinase activity | protein serine kinase activity | histone H3T45 kinase activity | ATP binding | magnesium ion binding | protein kinase binding | kinase activity | histone H2AXS139 kinase activity | histone H2AS121 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S28 kinase activity | protein binding | ribosomal protein S6 kinase activity | histone H2AT120 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | interleukin-1 receptor binding | histone H3T3 kinase activity | histone H3T6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | AMP-activated protein kinase activity http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005149 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004679 | | | | | | | 33238146 | 11960013 | | | | | 12496252,12860405,19264966,20485341,21903422,23376919,24316379,25502805,25910212,26871637,28514442,31515488,32296183,33238146,33961781 | | | | | | | | | | 11960013 | | | | http://nanbyodata.jp/ontology/NANDO_1200361 NANDO:1200361 指定難病 Designated intractable disease IRAK4欠損症 IRAK4 deficiency MONDO:0011888 exactMatch http://glycosmos.org/glycogene/79797 79797 ZNF408 RNA polymerase II cis-regulatory region sequence-specific DNA binding | identical protein binding | metal ion binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 15231747,18255255,25416956,32296183 | | | 14667819,15231747,16189514,18255255,19060904,20211142,25416956,25910212,28514442,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/79947 79947 DHDDS metal ion binding | dehydrodolichyl diphosphate synthase activity | prenyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0045547 | http://purl.obolibrary.org/obo/GO_0004659 | http://purl.obolibrary.org/obo/GO_0005515 | 28842490,33077723 | 25066056 | 15110773,32817466,33961781 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/256471 256471 MFSD8 fluoride channel activity | chloride channel activity | iodide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0062054 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0015111 34910516 | 34910516 | 34910516 http://nanbyodata.jp/ontology/NANDO_1200150 NANDO:1200150 指定難病 Designated intractable disease セロイドリポフスチノーシス Neuronal ceroid-lipofuscinosis MONDO:0016295 exactMatch http://glycosmos.org/glycogene/26012 26012 NSMF protein binding | calcium-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/3105 3105 HLA-A beta-2-microglobulin binding | RNA binding | T cell receptor binding | peptide antigen binding | TAP complex binding | TAP binding | CD8 receptor binding | signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0030881 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042608 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0062061 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042610 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 23566939,25631937,3309677,7694806,8805302,8906788 | 22658674 | 10435578,8906788,8955188 | 10435578,1402688,17189421,20364150,22031944,23566939,24643698,25631937,7504010,7694806,8805302,8839770,8906788,8955188,9177355 | 8630735 | 8617941,8805302 | 2784196 | 19124746 | 12414957,20946353,23401559,26869717,9177355 http://nanbyodata.jp/ontology/NANDO_1200245 NANDO:1200245 指定難病 Designated intractable disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_1200245 NANDO:1200245 指定難病 Designated intractable disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_1200251 NANDO:1200251 指定難病 Designated intractable disease 高安動脈炎 Takayasu arteritis MONDO:0017991 exactMatch http://glycosmos.org/glycogene/3113 3113 HLA-DPA1 peptide antigen binding | MHC class II receptor activity | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | 2461352 | | 28514442,33961781,34819669 http://nanbyodata.jp/ontology/NANDO_1200263 NANDO:1200263 指定難病 Designated intractable disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/3115 3115 HLA-DPB1 peptide antigen binding | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | | 32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1200263 NANDO:1200263 指定難病 Designated intractable disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1200415 NANDO:1200415 指定難病 Designated intractable disease サルコイドーシス Sarcoidosis MONDO:0019338 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1200470 NANDO:1200470 指定難病 Designated intractable disease 全身型若年性特発性関節炎 Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/5604 5604 MAP2K1 protein serine/threonine/tyrosine kinase activity | MAP-kinase scaffold activity | protein kinase activator activity | protein serine/threonine kinase activator activity | protein tyrosine kinase activity | protein serine kinase activity | scaffold protein binding | protein binding | protein serine/threonine kinase activity | ATP binding | protein kinase activity | JUN kinase kinase activity | MAP kinase kinase activity http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0008545 | http://purl.obolibrary.org/obo/GO_0004708 19565474 | 29433126 | 10644344 | 8388392 | | | 10409742 | 15299019,17110930,17255949,17724343,17979178,18329369,19197339,20179161,20554783,20679487,21441104,22572157,22752157,23241949,23934108,24211253,24746704,25155755,25416956,25437913,25600339,26496610,29433126,31980649,32296183,32707033,32721402,33961781,34779126,35271311 | | | 10570282 | | 28166211,8388392 http://nanbyodata.jp/ontology/NANDO_1200462 NANDO:1200462 指定難病 Designated intractable disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/5605 5605 MAP2K2 metal ion binding | protein binding | ATP binding | JUN kinase kinase activity | MAP-kinase scaffold activity | MAP kinase kinase activity | protein serine/threonine kinase activator activity | protein serine kinase activity | PDZ domain binding | protein serine/threonine/tyrosine kinase activity | protein tyrosine kinase activity | scaffold protein binding | protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008545 | http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0004708 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0004674 | 11909642,17979178,21615688,21988832,24746704,25416956,25600339,25852190,27086506,28514442,29433126,31980649,32296183,32707033,32814053,33961781,35271311 | | | 29433126 | 8388392 | 8388392 | | 21615688 | 19565474 | | 10409742,21615688 | http://nanbyodata.jp/ontology/NANDO_1200462 NANDO:1200462 指定難病 Designated intractable disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/403 403 ARL3 protein binding | microtubule binding | GDP binding | magnesium ion binding | GTP binding | GTPase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0003924 11847227,16169070,18588884,22085962,26455799,27173435,28514442,30257685,32296183,33961781,35271311 | 12417528 | 18588884 | | 18588884,22085962 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/931 931 MS4A1 identical protein binding | protein binding | MHC class II protein complex binding | immunoglobulin binding | epidermal growth factor receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0019865 | http://purl.obolibrary.org/obo/GO_0005154 32792392 | 25416956,32296183 | 20458337 | 18474602 | http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/5158 5158 PDE6B metal ion binding | 3',5'-cyclic-GMP phosphodiesterase activity | calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity | 3',5'-cyclic-AMP phosphodiesterase activity | calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047555 | http://purl.obolibrary.org/obo/GO_0048101 | http://purl.obolibrary.org/obo/GO_0004115 | http://purl.obolibrary.org/obo/GO_0004117 | | | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200563 NANDO:1200563 指定難病 Designated intractable disease 片側巨脳症 Hemimegalencephaly MONDO:0020492 exactMatch http://glycosmos.org/glycogene/5426 5426 POLE chromatin binding | DNA binding | DNA-directed DNA polymerase activity | zinc ion binding | protein binding | nucleotide binding | 4 iron, 4 sulfur cluster binding | single-stranded DNA 3'-5' DNA exonuclease activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003887 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000166 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0008310 16762037 | 16762037 | 16762037 | | 10801849,28514442,32296183,33961781 | | | http://nanbyodata.jp/ontology/NANDO_1200406 NANDO:1200406 指定難病 Designated intractable disease IMAge症候群 IMAge syndrome MONDO:0013873 exactMatch http://glycosmos.org/glycogene/5447 5447 POR NADPH-hemoprotein reductase activity | flavin adenine dinucleotide binding | protein binding | FMN binding | NADP binding http://purl.obolibrary.org/obo/GO_0003958 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0010181 | http://purl.obolibrary.org/obo/GO_0050661 10048323,19448135,2513880 | | 21081644,35271311 | | http://nanbyodata.jp/ontology/NANDO_1200402 NANDO:1200402 指定難病 Designated intractable disease P450酸化還元酵素欠損症 P450 oxidoreductase deficiency MONDO:0013310 exactMatch http://glycosmos.org/glycogene/5551 5551 PRF1 pore-forming activity | protein binding | identical protein binding | wide pore channel activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0140911 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0022829 | http://purl.obolibrary.org/obo/GO_0005509 | 11911826,25416956,32296183 | 21037563,21685908 | 20038786,20889983,24558045 | http://nanbyodata.jp/ontology/NANDO_1200296 NANDO:1200296 指定難病 Designated intractable disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/5657 5657 PRTN3 signaling receptor binding | enzyme binding | serine-type peptidase activity | serine-type endopeptidase activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 17244676 | 17712045 | 2679910 | 11389039,22266279,23202369,28240246 | 16488976,28240246,30692621 http://nanbyodata.jp/ontology/NANDO_1200263 NANDO:1200263 指定難病 Designated intractable disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/5771 5771 PTPN2 protein binding | protein tyrosine phosphatase activity, metal-dependent | receptor tyrosine kinase binding | histone H2AXY142 phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | protein kinase binding | STAT family protein binding | syntaxin binding | protein tyrosine phosphatase activity | integrin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0005178 12359225,12907755,15696169,16595549,19273555,22080863,28514442,33961781,35013194 | | 18819921 | | | 11909529,15696169 | | 23006999 | 11909529,12138178,12612081,14966296,17210636,23006999 | 15592458 http://nanbyodata.jp/ontology/NANDO_1200471 NANDO:1200471 指定難病 Designated intractable disease 関節型若年性特発性関節炎 Articular-type juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/5949 5949 RBP3 serine-type peptidase activity | retinol binding | retinoid binding | retinal binding | protein binding http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0019841 | http://purl.obolibrary.org/obo/GO_0005501 | http://purl.obolibrary.org/obo/GO_0016918 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 32296183 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/5961 5961 PRPH2 protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | 32814053 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6010 6010 RHO metal ion binding | G protein-coupled photoreceptor activity | 11-cis retinal binding | protein binding | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008020 | http://purl.obolibrary.org/obo/GO_0005502 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004930 | | | 12754272,17693260,19934218,32296183 | 8107847 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6017 6017 RLBP1 retinol binding | protein binding | phosphatidylinositol bisphosphate binding | 11-cis retinal binding http://purl.obolibrary.org/obo/GO_0019841 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1902936 | http://purl.obolibrary.org/obo/GO_0005502 | 32296183 | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6094 6094 ROM1 protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6101 6101 RP1 protein binding | microtubule binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 21148103 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6239 6239 RREB1 zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | metal ion binding | DNA-binding transcription activator activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001228 | 20133935 | 8816445 | | 8816445 http://nanbyodata.jp/ontology/NANDO_1200339 NANDO:1200339 指定難病 Designated intractable disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/64218 64218 SEMA4A semaphorin receptor binding | protein binding | chemorepellent activity | neuropilin binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0038191 | 17318185 | | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/6687 6687 SPG7 metalloendopeptidase activity | ATP-dependent peptidase activity | ATP-dependent H2AZ histone chaperone activity | zinc ion binding | unfolded protein binding | ATP hydrolysis activity | DNA clamp loader activity | ATP-dependent H3-H4 histone complex chaperone activity | protein binding | cohesin loader activity | ATP binding | peptidase activity | chromatin extrusion motor activity http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0004176 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0140584 28396416,31097542 | | | | 9635427 | | | | 14623864,16189514,21516116,25416956,26387735,28514442,32296183,33961781 | | | 9635427 | http://nanbyodata.jp/ontology/NANDO_1200008 NANDO:1200008 指定難病 Designated intractable disease 原発性側索硬化症 Primary lateral sclerosis MONDO:0018155 exactMatch http://glycosmos.org/glycogene/8742 8742 TNFSF12 tumor necrosis factor receptor binding | receptor ligand activity | signaling receptor binding | protein binding | cytokine activity http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | | 9560343 | 14961121,23438059,29657270,32296183,32814053 | 21525013 http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/8565 8565 YARS1 tRNA binding | protein binding | interleukin-8 receptor binding | small molecule binding | ATP binding | RNA binding | tyrosine-tRNA ligase activity http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005153 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004831 | 24965446,25533949,32814053 | 10102815 | 25533949 | | 22658674 | 22291016,25533949 http://nanbyodata.jp/ontology/NANDO_1200016 NANDO:1200016 指定難病 Designated intractable disease シャルコー・マリー・トゥース病 Charcot-Marie-Tooth disease MONDO:0015626 exactMatch http://glycosmos.org/glycogene/64072 64072 CDH23 beta-catenin binding | calcium ion binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | | 12485990 | http://nanbyodata.jp/ontology/NANDO_1200377 NANDO:1200377 指定難病 Designated intractable disease 下垂体性TSH分泌亢進症 Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome MONDO:0019611 exactMatch http://glycosmos.org/glycogene/64072 64072 CDH23 beta-catenin binding | calcium ion binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | | 12485990 | http://nanbyodata.jp/ontology/NANDO_1200378 NANDO:1200378 指定難病 Designated intractable disease 下垂体性PRL分泌亢進症 Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome MONDO:0010911 exactMatch http://glycosmos.org/glycogene/64240 64240 ABCG5 ATP hydrolysis activity | protein heterodimerization activity | metal ion binding | ATP binding | ABC-type transporter activity | protein binding | cholesterol transfer activity | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042626 16893193 | 16870176 | | 16893193 | | 16870176,17474147,27144356 | 14504269 | 27144356 http://nanbyodata.jp/ontology/NANDO_1200394 NANDO:1200394 指定難病 Designated intractable disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/64241 64241 ABCG8 cholesterol transfer activity | ATP hydrolysis activity | ABC-type transporter activity | protein binding | ATP binding | protein heterodimerization activity | metal ion binding | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042626 14504269 | 16893193 | | 16870176,27144356,32296183 | 16893193 | 16870176 | | 27144356 http://nanbyodata.jp/ontology/NANDO_1200394 NANDO:1200394 指定難病 Designated intractable disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/255738 255738 PCSK9 signaling receptor inhibitor activity | apolipoprotein receptor binding | apolipoprotein binding | very-low-density lipoprotein particle binding | serine-type endopeptidase activity | low-density lipoprotein particle binding | protein binding | sodium channel inhibitor activity | very-low-density lipoprotein particle receptor binding | low-density lipoprotein particle receptor binding | RNA binding http://purl.obolibrary.org/obo/GO_0030547 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019871 | http://purl.obolibrary.org/obo/GO_0070326 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0003723 22848640 | 18039658 | | | 12552133 | | 17461796,18250299,18753623,18799458,22081141,22493497,22580899,22848640,25613181 | 22493497 | 18039658 | 17080197,17452316,22081141,22848640 | 22658674 http://nanbyodata.jp/ontology/NANDO_1200394 NANDO:1200394 指定難病 Designated intractable disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/8822 8822 FGF17 type 2 fibroblast growth factor receptor binding | growth factor activity | protein binding | type 1 fibroblast growth factor receptor binding http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005105 16384934 | | 32296183 | 16384934 http://nanbyodata.jp/ontology/NANDO_1200388 NANDO:1200388 指定難病 Designated intractable disease ゴナドトロピン分泌低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/29851 29851 ICOS protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 11956294,16951355,18641334,27135603 | 33033255 http://nanbyodata.jp/ontology/NANDO_1200344 NANDO:1200344 指定難病 Designated intractable disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/8842 8842 PROM1 cadherin binding | protein binding | actinin binding | cholesterol binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0015485 18654668 | 18654668,23084749,24556617 | 18654668 | http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/144811 144811 LACC1 adenosine deaminase activity | S-methyl-5-thioadenosine phosphorylase activity | copper ion binding | 2'-deoxyadenosine deaminase activity | purine-nucleoside phosphorylase activity | guanosine phosphorylase activity | protein binding | oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0017061 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0004731 | http://purl.obolibrary.org/obo/GO_0047975 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016682 31978345 | 31978345 | | | 31978345 | 31978345 | 27478939,28514442,31875558,33961781 | 27959965,31978345 http://nanbyodata.jp/ontology/NANDO_1200470 NANDO:1200470 指定難病 Designated intractable disease 全身型若年性特発性関節炎 Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/3373 3373 HYAL1 hyaluronan synthase activity | chondroitin hydrolase activity | hyalurononglucosaminidase activity | virus receptor activity http://purl.obolibrary.org/obo/GO_0050501 | http://purl.obolibrary.org/obo/GO_0052757 | http://purl.obolibrary.org/obo/GO_0004415 | http://purl.obolibrary.org/obo/GO_0001618 | | 11296287,11944887,12084718,17170110,18390475,19478093,20473947,20572808,21695196,21699545,9223416 | 11296287 http://nanbyodata.jp/ontology/NANDO_1200115 NANDO:1200115 指定難病 Designated intractable disease ヒアルロニダーゼ欠損症 Hyaluronidase deficiency MONDO:0011093 exactMatch http://glycosmos.org/glycogene/3419 3419 IDH3A isocitrate dehydrogenase (NAD+) activity | protein binding | NAD binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0004449 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 14555658,16737955,17432878,28098230,33349631,4336621 | 14555658,28098230,28514442,30613765,31515270,33961781 | | 28098230 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/3420 3420 IDH3B electron transfer activity | protein binding | magnesium ion binding | NAD binding | isocitrate dehydrogenase (NAD+) activity http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0004449 10601238 | 31515270 | | | 10601238 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_1200097 NANDO:1200097 指定難病 Designated intractable disease Hunter症候群 Hunter syndrome MONDO:0010674 exactMatch http://glycosmos.org/glycogene/3458 3458 IFNG type II interferon receptor binding | cytokine activity | protein binding http://purl.obolibrary.org/obo/GO_0005133 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | 16914093,26227742 | 11250200,18252829,28514442,33961781,7617032 http://nanbyodata.jp/ontology/NANDO_1200296 NANDO:1200296 指定難病 Designated intractable disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/3593 3593 IL12B cytokine receptor activity | interleukin-12 alpha subunit binding | identical protein binding | protein-containing complex binding | protein binding | protein heterodimerization activity | cytokine activity | interleukin-23 receptor binding | interleukin-12 receptor binding | growth factor activity | cytokine binding http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0042164 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0045519 | http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0019955 | 11023671 | 7527811 | | 10899108,11023671,11114383,12023369,18680750,29997244,7527811 | 11023671,1674604 | 1674604,7584494 | 11114383 | 1674604,9603733 | 1674604 | http://nanbyodata.jp/ontology/NANDO_1200251 NANDO:1200251 指定難病 Designated intractable disease 高安動脈炎 Takayasu arteritis MONDO:0017991 exactMatch http://glycosmos.org/glycogene/567 567 B2M identical protein binding | MHC class II protein complex binding | peptide antigen binding | structural molecule activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 17108084,18579777,19172750,19564620,20826442,21131979,21220305,21569201,22289140,22575645 | | | 36104323 | 12118248,12833155,14764708,15723809,15965644,18802093,20164429,20618438,23051753,23527218,26030842,27043408,28514442,32814053,33961781,9427624,9465039,9546397,9990067 | 28468825 http://nanbyodata.jp/ontology/NANDO_1200328 NANDO:1200328 指定難病 Designated intractable disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/583 583 BBS2 RNA polymerase II-specific DNA-binding transcription factor binding | protein binding http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 22302990 | 16189514,16327777,17574030,18000879,18762586,20080638,22139371,22500027,25416956,25552655,27173435,28514442,29039417,32296183,33144677,33961781 http://nanbyodata.jp/ontology/NANDO_1200431 NANDO:1200431 指定難病 Designated intractable disease 網膜色素変性症 Retinitis pigmentosa MONDO:0019200 exactMatch http://glycosmos.org/glycogene/120227 120227 CYP2R1 iron ion binding | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen | protein homodimerization activity | D3 vitamins binding | heme binding | vitamin D3 25-hydroxylase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0016712 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_1902271 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030343 18511070 | | 18511070 | 18511070 | 18511070 | 15465040,18511070 http://nanbyodata.jp/ontology/NANDO_1200782 NANDO:1200782 指定難病 Designated intractable disease ビタミンD依存症1型 Vitamin D-dependent rickets, type 1 MONDO:0009924 exactMatch http://glycosmos.org/glycogene/10483 10483 SEC23B GTPase activator activity | zinc ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | | 16189514,21516116,25416956,26522472,27551091,31515488,32296183,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_1200887 NANDO:1200887 指定難病 Designated intractable disease 先天性赤血球形成異常性貧血 Type II Congenital dyserythropoietic anemia type II MONDO:0009134 exactMatch http://glycosmos.org/glycogene/10522 10522 DEAF1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | metal ion binding | zinc ion binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 24726472 | | | | 24726472 | 20368287,21988832,22442688,29636529,30824926,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_1200687 NANDO:1200687 指定難病 Designated intractable disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/90 90 ACVR1 transforming growth factor beta receptor activity, type III | transforming growth factor beta receptor activity, type I | metal ion binding | protein tyrosine kinase binding | ATP binding | transforming growth factor beta binding | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type II | protein kinase activity | protein binding | cadherin binding | protein serine/threonine kinase activity | activin binding | peptide hormone binding | activin receptor activity, type II | protein homodimerization activity | activin receptor activity, type I | BMP receptor activity | SMAD binding http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0046332 | | | 26598555 | 12065756 | 8242742 | 19506109,19736306,8242742 | | 19736306 | 11266516,18436533,21791611,31483918,8242742,8555189 | 26598555 | 12065756 | 8242742 | 12702211 | | 18436533 | 8242742 | 12065756 | 12065756 http://nanbyodata.jp/ontology/NANDO_1200871 NANDO:1200871 指定難病 Designated intractable disease 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva MONDO:0007606 exactMatch http://glycosmos.org/glycogene/1080 1080 CFTR 14-3-3 protein binding | bicarbonate transmembrane transporter activity | protein binding | Sec61 translocon complex binding | chloride transmembrane transporter activity | chloride channel regulator activity | chloride channel inhibitor activity | protein-folding chaperone binding | ATPase-coupled inorganic anion transmembrane transporter activity | ATP binding | ATP hydrolysis activity | enzyme binding | chloride channel activity | PDZ domain binding | ATPase-coupled transmembrane transporter activity | intracellularly ATP-gated chloride channel activity | ABC-type transporter activity | isomerase activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106138 | http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0017081 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043225 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005260 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0016853 26888287 | 15010471,19019741 | 11707463,12369822,12471024,14679199,15247260,16203867,16546175,16901789,17110338,17244609,18555783,19289574,19465887,19878303,20658517,21455491,21884936,22038833,22121115,22178883,22768251,23818989,25661196,25712891,26618866,27092946,28360110,29924966,31324722,35156780,36012204,39009827,9671706,9792704 | 9792704 | | | 22178883 | 16207813 | | | 11524016,8910473 | 19398555 | 11524016,11707463,15010471,18570918,19019741,19621064,22178883,24885604 | 11707463 | | 11707463,8910473 | | http://nanbyodata.jp/ontology/NANDO_1200921 NANDO:1200921 指定難病 Designated intractable disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/1080 1080 CFTR 14-3-3 protein binding | bicarbonate transmembrane transporter activity | protein binding | Sec61 translocon complex binding | chloride transmembrane transporter activity | chloride channel regulator activity | chloride channel inhibitor activity | protein-folding chaperone binding | ATPase-coupled inorganic anion transmembrane transporter activity | ATP binding | ATP hydrolysis activity | enzyme binding | chloride channel activity | PDZ domain binding | ATPase-coupled transmembrane transporter activity | intracellularly ATP-gated chloride channel activity | ABC-type transporter activity | isomerase activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106138 | http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0017081 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043225 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005260 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0016853 26888287 | 15010471,19019741 | 11707463,12369822,12471024,14679199,15247260,16203867,16546175,16901789,17110338,17244609,18555783,19289574,19465887,19878303,20658517,21455491,21884936,22038833,22121115,22178883,22768251,23818989,25661196,25712891,26618866,27092946,28360110,29924966,31324722,35156780,36012204,39009827,9671706,9792704 | 9792704 | | | 22178883 | 16207813 | | | 11524016,8910473 | 19398555 | 11524016,11707463,15010471,18570918,19019741,19621064,22178883,24885604 | 11707463 | | 11707463,8910473 | | http://nanbyodata.jp/ontology/NANDO_1200922 NANDO:1200922 指定難病 Designated intractable disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/1080 1080 CFTR 14-3-3 protein binding | bicarbonate transmembrane transporter activity | protein binding | Sec61 translocon complex binding | chloride transmembrane transporter activity | chloride channel regulator activity | chloride channel inhibitor activity | protein-folding chaperone binding | ATPase-coupled inorganic anion transmembrane transporter activity | ATP binding | ATP hydrolysis activity | enzyme binding | chloride channel activity | PDZ domain binding | ATPase-coupled transmembrane transporter activity | intracellularly ATP-gated chloride channel activity | ABC-type transporter activity | isomerase activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106138 | http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0017081 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043225 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005260 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0016853 26888287 | 15010471,19019741 | 11707463,12369822,12471024,14679199,15247260,16203867,16546175,16901789,17110338,17244609,18555783,19289574,19465887,19878303,20658517,21455491,21884936,22038833,22121115,22178883,22768251,23818989,25661196,25712891,26618866,27092946,28360110,29924966,31324722,35156780,36012204,39009827,9671706,9792704 | 9792704 | | | 22178883 | 16207813 | | | 11524016,8910473 | 19398555 | 11524016,11707463,15010471,18570918,19019741,19621064,22178883,24885604 | 11707463 | | 11707463,8910473 | | http://nanbyodata.jp/ontology/NANDO_1201021 NANDO:1201021 指定難病 Designated intractable disease 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 closeMatch http://glycosmos.org/glycogene/22802 22802 CLCA4 metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005229 | | 10437792 | http://nanbyodata.jp/ontology/NANDO_1200922 NANDO:1200922 指定難病 Designated intractable disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/22802 22802 CLCA4 metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005229 | | 10437792 | http://nanbyodata.jp/ontology/NANDO_1201021 NANDO:1201021 指定難病 Designated intractable disease 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 closeMatch http://glycosmos.org/glycogene/1277 1277 COL1A1 protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200646 NANDO:1200646 指定難病 Designated intractable disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1277 1277 COL1A1 protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200650 NANDO:1200650 指定難病 Designated intractable disease 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 exactMatch http://glycosmos.org/glycogene/1278 1278 COL1A2 protein binding | metal ion binding | protein-macromolecule adaptor activity | SMAD binding | identical protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent | protease binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0030020 18375391,25416956,26848503,26871637,32095531,32296183 | | 18375391 | | 17211858 | 8900172 | 8982144 | 19932771 | 20551380,25037231,27559042,28327460,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_1200650 NANDO:1200650 指定難病 Designated intractable disease 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 exactMatch http://glycosmos.org/glycogene/1278 1278 COL1A2 protein binding | metal ion binding | protein-macromolecule adaptor activity | SMAD binding | identical protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent | protease binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0030020 18375391,25416956,26848503,26871637,32095531,32296183 | | 18375391 | | 17211858 | 8900172 | 8982144 | 19932771 | 20551380,25037231,27559042,28327460,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_1201086 NANDO:1201086 指定難病 Designated intractable disease 心臓弁型エーラス・ダンロス症候群 Cardiac-valvular Ehlers-Danlos syndrome MONDO:0009159 exactMatch http://glycosmos.org/glycogene/1289 1289 COL5A1 extracellular matrix structural constituent conferring tensile strength | metal ion binding | heparin binding | protein binding | integrin binding | proteoglycan binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0048407 20551380,25037231,27559042,28327460,28344315,28675934 | | 2203476 | 20979576,28514442,33961781 | 14970208 | 9099729 | 8900172 http://nanbyodata.jp/ontology/NANDO_1200646 NANDO:1200646 指定難病 Designated intractable disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1290 1290 COL5A2 SMAD binding | metal ion binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030020 | | 25037231,27068509,27559042,28327460,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_1200646 NANDO:1200646 指定難病 Designated intractable disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1501 1501 CTNND2 cadherin binding | protein binding | beta-catenin binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013 | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484 http://nanbyodata.jp/ontology/NANDO_1200684 NANDO:1200684 指定難病 Designated intractable disease 5p欠失症候群 5p deletion syndrome MONDO:0007404 exactMatch http://glycosmos.org/glycogene/1593 1593 CYP27A1 cholesterol 26-hydroxylase activity | cholestanetetraol 26-dehydrogenase activity | vitamin D3 25-hydroxylase activity | steroid hydroxylase activity | iron ion binding | heme binding http://purl.obolibrary.org/obo/GO_0031073 | http://purl.obolibrary.org/obo/GO_0047748 | http://purl.obolibrary.org/obo/GO_0030343 | http://purl.obolibrary.org/obo/GO_0008395 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 12077124,9660774 | 11412116 | 15465040 | | | 9660774 http://nanbyodata.jp/ontology/NANDO_1200856 NANDO:1200856 指定難病 Designated intractable disease 脳腱黄色腫症 Cerebrotendinous xanthomatosis MONDO:0008948 exactMatch http://glycosmos.org/glycogene/1594 1594 CYP27B1 calcidiol 1-monooxygenase activity | heme binding | secalciferol 1-monooxygenase activity | iron ion binding http://purl.obolibrary.org/obo/GO_0004498 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0062185 | http://purl.obolibrary.org/obo/GO_0005506 15795327,16549446,17023519,22862690,9415400 | | 10518789 | http://nanbyodata.jp/ontology/NANDO_1200782 NANDO:1200782 指定難病 Designated intractable disease ビタミンD依存症1型 Vitamin D-dependent rickets, type 1 MONDO:0009924 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_1200791 NANDO:1200791 指定難病 Designated intractable disease メープルシロップ尿症 Maple syrup urine disease MONDO:0009563 exactMatch http://glycosmos.org/glycogene/1717 1717 DHCR7 7-dehydrocholesterol reductase activity | cholesterol-5,6-oxide hydrolase activity | NADP binding | protein binding http://purl.obolibrary.org/obo/GO_0047598 | http://purl.obolibrary.org/obo/GO_0033963 | http://purl.obolibrary.org/obo/GO_0050661 | http://purl.obolibrary.org/obo/GO_0005515 38297129,38297130,9465114 | 20615952 | | 25637936,32694168 http://nanbyodata.jp/ontology/NANDO_1200961 NANDO:1200961 指定難病 Designated intractable disease スミス・レムリ・オピッツ症候群 Smith-lemli-opitz syndrome MONDO:0010035 exactMatch http://glycosmos.org/glycogene/19 19 ABCA1 apolipoprotein A-I binding | signaling receptor binding | ABC-type transporter activity | phosphatidylcholine binding | ATPase binding | phosphatidylcholine floppase activity | protein binding | small GTPase binding | apolipoprotein binding | protein transmembrane transporter activity | ATP binding | cholesterol transfer activity | ATP hydrolysis activity | floppase activity | ATPase-coupled transmembrane transporter activity | sphingolipid floppase activity | phospholipid transporter activity | phosphatidylserine floppase activity | cholesterol binding | apolipoprotein A-I receptor activity | syntaxin binding | high-density lipoprotein particle binding http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0090554 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0008320 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140328 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0046623 | http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0090556 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0034188 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0008035 11162594,16443932 | 23931754 | | 24097981 | 23931754 | 16702602,24097981,35974019 | 12084722,14754908,15469992,16192269,16443932,23931754,25170080,30458687 | 16443932 | 11162594 | 29937375 | 11700048 | 12084722 | | 16702602,24097981 | | 24097981 | 28373057 | 24097981 | 12084722 | 16443932 | 15469992 | http://nanbyodata.jp/ontology/NANDO_1200854 NANDO:1200854 指定難病 Designated intractable disease タンジール病 Tangier disease MONDO:0008783 exactMatch http://glycosmos.org/glycogene/3931 3931 LCAT phosphatidylcholine-sterol O-acyltransferase activity | 1-alkyl-2-acetylglycerophosphocholine esterase activity | sterol esterase activity | platelet-activating factor acetyltransferase activity | protein binding | apolipoprotein A-I binding http://purl.obolibrary.org/obo/GO_0004607 | http://purl.obolibrary.org/obo/GO_0003847 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0047179 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034186 10559507,11966470,26195816,3458198,4335615 | 8016111 | 8016111 | 8016111 | 11435418,14967812,15654758,1587806,17676061,32814053 | 1587806 http://nanbyodata.jp/ontology/NANDO_1200852 NANDO:1200852 指定難病 Designated intractable disease レシチンコレステロールアシルトランスフェラーゼ欠損症 Lecithin cholesterol acyltransferase deficiency MONDO:0009515 closeMatch http://glycosmos.org/glycogene/38 38 ACAT1 coenzyme A binding | C-acetyltransferase activity | cholesterol O-acyltransferase activity | identical protein binding | potassium ion binding | enzyme binding | acetyl-CoA C-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0120225 | http://purl.obolibrary.org/obo/GO_0016453 | http://purl.obolibrary.org/obo/GO_0034736 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003985 | 17371050 | 32944968 | | 17371050 | | 17371050,1979337,8103405 http://nanbyodata.jp/ontology/NANDO_1200987 NANDO:1200987 指定難病 Designated intractable disease β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency MONDO:0008760 exactMatch http://glycosmos.org/glycogene/10743 10743 RAI1 metal ion binding | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 16189514,25416956 | http://nanbyodata.jp/ontology/NANDO_1200687 NANDO:1200687 指定難病 Designated intractable disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/6804 6804 STX1A SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | SNARE binding http://purl.obolibrary.org/obo/GO_0005484 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0000149 | 24722188,32296183 | 12730201 | | 10321247,10481273,12730201,15459722,16169070,19748891,20798282,24722188,26635000,30610939,32296183 | 18570918 | http://nanbyodata.jp/ontology/NANDO_1200922 NANDO:1200922 指定難病 Designated intractable disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/6804 6804 STX1A SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | SNARE binding http://purl.obolibrary.org/obo/GO_0005484 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0000149 | 24722188,32296183 | 12730201 | | 10321247,10481273,12730201,15459722,16169070,19748891,20798282,24722188,26635000,30610939,32296183 | 18570918 | http://nanbyodata.jp/ontology/NANDO_1201021 NANDO:1201021 指定難病 Designated intractable disease 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 closeMatch http://glycosmos.org/glycogene/25861 25861 WHRN identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | 16434480,17584769,23023331,32296183 http://nanbyodata.jp/ontology/NANDO_1200943 NANDO:1200943 指定難病 Designated intractable disease アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 exactMatch http://glycosmos.org/glycogene/23512 23512 SUZ12 transcription corepressor binding | enzyme activator activity | protein binding | chromatin DNA binding | promoter-specific chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | methylated histone binding | zinc ion binding | lncRNA binding | metal ion binding http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0046872 29628311 | 15385962,28229514 | 17560333,19734898,20075857,20543829,21078963,22009739,22439931,23104054,23238014,23684459,24183680,24981860,26496610,27705803,27728805,28229514,29628311,29909548,30026490,30923826,33961781,34591612,35016035,37553330 | | | | 21029866 | | | http://nanbyodata.jp/ontology/NANDO_1200659 NANDO:1200659 指定難病 Designated intractable disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/84059 84059 ADGRV1 calcium ion binding | protein binding | G protein-coupled receptor activity | hydrolase activity | G-protein alpha-subunit binding | adenylate cyclase inhibitor activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0001965 | http://purl.obolibrary.org/obo/GO_0010855 10976914 | 16301216,16434480,20440071 | 11606593 | | | http://nanbyodata.jp/ontology/NANDO_1200943 NANDO:1200943 指定難病 Designated intractable disease アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 exactMatch http://glycosmos.org/glycogene/11330 11330 CTRC protein binding | serine-type endopeptidase activity | peptidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008233 25416956,28514442,32296183,33961781 | | 8635596 http://nanbyodata.jp/ontology/NANDO_1200921 NANDO:1200921 指定難病 Designated intractable disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/23096 23096 IQSEC2 guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 26793055 | 30842726,35271311 http://nanbyodata.jp/ontology/NANDO_1200687 NANDO:1200687 指定難病 Designated intractable disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/23005 23005 MAPKBP1 protein binding http://purl.obolibrary.org/obo/GO_0005515 22700971,25416956,28089251,32296183 http://nanbyodata.jp/ontology/NANDO_1201036 NANDO:1201036 指定難病 Designated intractable disease ネフロン癆 Nephronophthisis MONDO:0009728 closeMatch http://glycosmos.org/glycogene/2006 2006 ELN extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0005515 27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771 http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/2109 2109 ETFB electron transfer activity | protein binding http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515 25416781 | 27499296,33961781 http://nanbyodata.jp/ontology/NANDO_1200801 NANDO:1200801 指定難病 Designated intractable disease グルタル酸血症2型 Glutaric acidemia type 2 MONDO:0009282 exactMatch http://glycosmos.org/glycogene/2146 2146 EZH2 RNA binding | chromatin DNA binding | histone H3 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | nucleosome binding | protein-lysine N-methyltransferase activity | chromatin binding | histone H3K27 methyltransferase activity | protein binding | RNA polymerase II core promoter sequence-specific DNA binding | histone methyltransferase activity | primary miRNA binding | promoter-specific chromatin binding | lncRNA binding | histone binding | histone H3K27 trimethyltransferase activity | transcription corepressor activity | transcription corepressor binding | ribonucleoprotein complex binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0016279 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0046976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0042054 | http://purl.obolibrary.org/obo/GO_0070878 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0140951 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0043021 35682829 | 19734898 | | | 33479123 | 19144645,25620564 | 20154697 | 15385962,22323599,24474760,28229514,30026490,30923826 | 11571280,16179254,16357870,17560333,19734898,20075857,20543829,22009739,22094255,22439931,22897849,23142980,23238014,23455924,23684459,24074865,24183680,24474760,24981860,25416956,25417162,26496610,27705803,27728805,27728808,28229514,29628311,29909548,30026490,30510991,30923826,31515488,32051553,32296183,32814053,33961781,34591612,35016035,37553330 | | 26694085 | | 24623306 | | 33479123 | | | 29628311 | http://nanbyodata.jp/ontology/NANDO_1200659 NANDO:1200659 指定難病 Designated intractable disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/2200 2200 FBN1 calcium ion binding | hormone activity | heparin binding | protein binding | integrin binding | extracellular matrix constituent conferring elasticity | identical protein binding | protein-containing complex binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005201 15062093,7691719 | 27087445,31230984 | 11461921 | 12429738,15131124,15165854,15790312,17293099,18339631,19349279,19570982,21402694,22355679,24039232,25034023,26601954,32296183 | 12807887,15062093,17158881 | 8120105 | 18448684,24035709,25034023 | 15062093 | 20551380,23979707,25037231,27559042,28327460,28675934,3536967 http://nanbyodata.jp/ontology/NANDO_1200644 NANDO:1200644 指定難病 Designated intractable disease マルファン症候群／ロイス・ディーツ症候群 Marfan syndrome/Loeys-Dietz Syndrome MONDO:0007947 exactMatch http://glycosmos.org/glycogene/2212 2212 FCGR2A IgG binding | protein binding | IgG receptor activity http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770 | 25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_1200922 NANDO:1200922 指定難病 Designated intractable disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/2212 2212 FCGR2A IgG binding | protein binding | IgG receptor activity http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770 | 25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_1201021 NANDO:1201021 指定難病 Designated intractable disease 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 closeMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_1200668 NANDO:1200668 指定難病 Designated intractable disease ファイファー症候群 Pfeiffer syndrome MONDO:0007043 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200666 NANDO:1200666 指定難病 Designated intractable disease クルーゾン症候群 Crouzon's syndrome MONDO:0007405 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200667 NANDO:1200667 指定難病 Designated intractable disease アペール症候群 Apert syndrome MONDO:0007041 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200668 NANDO:1200668 指定難病 Designated intractable disease ファイファー症候群 Pfeiffer syndrome MONDO:0007043 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200669 NANDO:1200669 指定難病 Designated intractable disease アントレー・ビクスラー症候群 Antley-Bixler syndrome MONDO:0008803 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200875 NANDO:1200875 指定難病 Designated intractable disease タナトフォリック骨異形成症1型 Thanatophoric dysplasia type 1 MONDO:0008546 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200876 NANDO:1200876 指定難病 Designated intractable disease タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 MONDO:0008547 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200877 NANDO:1200877 指定難病 Designated intractable disease 軟骨無形成症 Achondroplasia MONDO:0007037 exactMatch http://glycosmos.org/glycogene/2324 2324 FLT4 platelet-derived growth factor beta-receptor activity | transmembrane-ephrin receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | stem cell factor receptor activity | GPI-linked ephrin receptor activity | brain-derived neurotrophic factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | epidermal growth factor receptor activity | insulin-like growth factor receptor activity | insulin receptor activity | protein binding | protein homodimerization activity | protein phosphatase binding | vascular endothelial growth factor receptor activity | growth factor binding | macrophage colony-stimulating factor receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0004714 | | | | | | | | | | | | 16530705,20224550,21130043,22939624,23878260,27991863,35384245 | 23878260 | 20826270 | 11532940,19779139,23878260,9012504 | 9435229 | | | | | 7898938 http://nanbyodata.jp/ontology/NANDO_1200709 NANDO:1200709 指定難病 Designated intractable disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2332 2332 FMR1 protein heterodimerization activity | mRNA binding | N6-methyladenosine-containing RNA reader activity | molecular condensate scaffold activity | RNA strand annealing activity | G-quadruplex RNA binding | poly(G) binding | RNA stem-loop binding | mRNA 5'-UTR binding | poly(A) binding | microtubule binding | dynein complex binding | protein binding | chromatin binding | methylated histone binding | translation initiation factor binding | poly(U) RNA binding | transmembrane transporter binding | signaling adaptor activity | translation regulator activity | identical protein binding | protein homodimerization activity | miRNA binding | RNA binding | mRNA 3'-UTR binding | translation repressor activity | sequence-specific mRNA binding | siRNA binding | ribosome binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_1990247 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0033592 | http://purl.obolibrary.org/obo/GO_0002151 | http://purl.obolibrary.org/obo/GO_0034046 | http://purl.obolibrary.org/obo/GO_0035613 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0008143 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0045182 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_1990825 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0043022 7489725 | 11157796,18936162,25561520,30765518,31439799 | 31753916 | 30765518,31439799 | 17057366 | 18653529,21642970,25464849,26374839 | 24204304,7688265 | 15805463,19166269 | 19166269 | | | | 10556305,11157796,11438699,12837692,15380484,15381419,16407062,16571602,18093976,18936162,21653829,21771594,24514761,24658146,24981860,25416956,25464849,26949739,31413325,31439799,32525608,32814053,33961781,36950384,37207277,39251607,7489725 | | 24813610 | 24658146 | 24204304,7688265,8156595 | 25561520 | 31439799 | | 11157796,17850748,21446998,31413325 | 7489725 | 17057366 | 10496225,15381419,22658674,22681889 | 17417632 | 11157796 | 12927206,23235829 | 17057366 | 24658146 http://nanbyodata.jp/ontology/NANDO_1200690 NANDO:1200690 指定難病 Designated intractable disease 脆弱Ｘ症候群関連疾患 Fragile X syndrome related diseases MONDO:0010382 closeMatch http://glycosmos.org/glycogene/2332 2332 FMR1 protein heterodimerization activity | mRNA binding | N6-methyladenosine-containing RNA reader activity | molecular condensate scaffold activity | RNA strand annealing activity | G-quadruplex RNA binding | poly(G) binding | RNA stem-loop binding | mRNA 5'-UTR binding | poly(A) binding | microtubule binding | dynein complex binding | protein binding | chromatin binding | methylated histone binding | translation initiation factor binding | poly(U) RNA binding | transmembrane transporter binding | signaling adaptor activity | translation regulator activity | identical protein binding | protein homodimerization activity | miRNA binding | RNA binding | mRNA 3'-UTR binding | translation repressor activity | sequence-specific mRNA binding | siRNA binding | ribosome binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_1990247 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0033592 | http://purl.obolibrary.org/obo/GO_0002151 | http://purl.obolibrary.org/obo/GO_0034046 | http://purl.obolibrary.org/obo/GO_0035613 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0008143 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0045182 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_1990825 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0043022 7489725 | 11157796,18936162,25561520,30765518,31439799 | 31753916 | 30765518,31439799 | 17057366 | 18653529,21642970,25464849,26374839 | 24204304,7688265 | 15805463,19166269 | 19166269 | | | | 10556305,11157796,11438699,12837692,15380484,15381419,16407062,16571602,18093976,18936162,21653829,21771594,24514761,24658146,24981860,25416956,25464849,26949739,31413325,31439799,32525608,32814053,33961781,36950384,37207277,39251607,7489725 | | 24813610 | 24658146 | 24204304,7688265,8156595 | 25561520 | 31439799 | | 11157796,17850748,21446998,31413325 | 7489725 | 17057366 | 10496225,15381419,22658674,22681889 | 17417632 | 11157796 | 12927206,23235829 | 17057366 | 24658146 http://nanbyodata.jp/ontology/NANDO_1200691 NANDO:1200691 指定難病 Designated intractable disease 脆弱 X 随伴振戦/失調症候群 Fragile X tremor/ataxia syndrome MONDO:0010382 exactMatch http://glycosmos.org/glycogene/2592 2592 GALT zinc ion binding | UDP-glucose:hexose-1-phosphate uridylyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008108 | http://purl.obolibrary.org/obo/GO_0005515 27005423 | 1897530,27005423 | 16189514,25416956,25910212,26871637,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200851 NANDO:1200851 指定難病 Designated intractable disease ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 exactMatch http://glycosmos.org/glycogene/2626 2626 GATA4 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | sequence-specific double-stranded DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | NFAT protein binding | DNA-binding transcription factor activity | DNA-binding transcription activator activity | DNA binding | transcription cis-regulatory region binding | protein kinase binding | zinc ion binding | co-SMAD binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0051525 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0070410 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0043565 10075728,12845333,15485867,16199874,17053787,21220346,24000169,35182466,9312027 | 21330551,9858576 | 28473536 | 21330551 | | 9312027 | 29325903 | 24000169 | 9566909 | | | 21330551 | 21220346 | | 21220346,21330551 | http://nanbyodata.jp/ontology/NANDO_1200709 NANDO:1200709 指定難病 Designated intractable disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2639 2639 GCDH glutaryl-CoA dehydrogenase activity | fatty-acyl-CoA binding | flavin adenine dinucleotide binding http://purl.obolibrary.org/obo/GO_0004361 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0050660 8541831 | | http://nanbyodata.jp/ontology/NANDO_1200800 NANDO:1200800 指定難病 Designated intractable disease グルタル酸血症1型 Glutaric acidemia type 1 MONDO:0009281 exactMatch http://glycosmos.org/glycogene/2657 2657 GDF1 cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://nanbyodata.jp/ontology/NANDO_1200709 NANDO:1200709 指定難病 Designated intractable disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_1201075 NANDO:1201075 指定難病 Designated intractable disease 偽性副甲状腺機能低下症Ia型 Pseudohypoparathyroidism type 1A MONDO:0007078 exactMatch http://glycosmos.org/glycogene/2817 2817 GPC1 fibroblast growth factor binding | copper ion binding | laminin binding | protein binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0005515 | 12732622 | | 30282023 http://nanbyodata.jp/ontology/NANDO_1200913 NANDO:1200913 指定難病 Designated intractable disease 胆道閉鎖症 Biliary atresia MONDO:0008867 exactMatch http://glycosmos.org/glycogene/2903 2903 GRIN2A transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | zinc ion binding | protein binding | amyloid-beta binding | glutamate-gated calcium ion channel activity | NMDA glutamate receptor activity http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0004972 | | 11937501,17360663,17997397,21653829,34321660 | 26719327 | 26875626,27839871 | 17526495,20890276,23933819,23933820,24504326,26875626,26919761,27288002,28095420,28126851,28242877,29644724,36117210,38307912,38538865 http://nanbyodata.jp/ontology/NANDO_1200602 NANDO:1200602 指定難病 Designated intractable disease ランドウ・クレフナー症候群 Landau-Kleffner syndrome MONDO:0009509 exactMatch http://glycosmos.org/glycogene/2969 2969 GTF2I DNA-binding transcription factor activity | protein binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II-specific DNA-binding transcription factor binding | DNA binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003677 | 19214191,21407215,24722188,32296183,9012831 | 23229069 | 9334314 | 9334314 | http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/2998 2998 GYS2 glycogen (starch) synthase activity | glycogen synthase activity, transferring glucose-1-phosphate http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0061547 1731614,9691087 | http://nanbyodata.jp/ontology/NANDO_1200838 NANDO:1200838 指定難病 Designated intractable disease 肝型糖原病 Hepatic glycogen storage disease MONDO:0009414 closeMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_1201095 NANDO:1201095 指定難病 Designated intractable disease MECP2重複症候群 MECP2 Duplication Syndrome MONDO:0010283 closeMatch http://glycosmos.org/glycogene/4210 4210 MEFV zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247 http://nanbyodata.jp/ontology/NANDO_1200864 NANDO:1200864 指定難病 Designated intractable disease 家族性地中海熱典型例 Typical familial Mediterranean fever MONDO:0009572 exactMatch http://glycosmos.org/glycogene/4598 4598 MVK ATP binding | protein binding | mevalonate kinase activity | magnesium ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004496 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0042802 | 21044950,32296183 | 10369261,1377680,14680974,14730012,18302342,9325256 | | 16189514,25502805,26871637,31515488,32296183,9325256 http://nanbyodata.jp/ontology/NANDO_1200866 NANDO:1200866 指定難病 Designated intractable disease 高IgD症候群 Hyper IgD syndrome MONDO:0009849 closeMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_1200711 NANDO:1200711 指定難病 Designated intractable disease エプスタイン病 Ebstein's anomaly MONDO:0009144 exactMatch http://glycosmos.org/glycogene/4647 4647 MYO7A protein binding | identical protein binding | protein domain specific binding | ADP binding | microfilament motor activity | spectrin binding | actin filament binding | ATP binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0030507 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005516 11964381,23023331 | | | | 21687988 | 23704327 | 21687988 | | 15300860 http://nanbyodata.jp/ontology/NANDO_1200942 NANDO:1200942 指定難病 Designated intractable disease アッシャー症候群1型 Usher syndrome type I MONDO:0010168 exactMatch http://glycosmos.org/glycogene/4647 4647 MYO7A protein binding | identical protein binding | protein domain specific binding | ADP binding | microfilament motor activity | spectrin binding | actin filament binding | ATP binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0030507 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005516 11964381,23023331 | | | | 21687988 | 23704327 | 21687988 | | 15300860 http://nanbyodata.jp/ontology/NANDO_1200943 NANDO:1200943 指定難病 Designated intractable disease アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 exactMatch http://glycosmos.org/glycogene/11285 11285 B4GALT7 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity | xylosylprotein 4-beta-galactosyltransferase activity | manganese ion binding | galactosyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0003831 | http://purl.obolibrary.org/obo/GO_0046525 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0008378 | http://purl.obolibrary.org/obo/GO_0005515 24052259 | 10438455 | 24052259 | 10506123,16583246 | 25416956,32296183 http://nanbyodata.jp/ontology/NANDO_1201088 NANDO:1201088 指定難病 Designated intractable disease 脊椎異形成型エーラス・ダンロス症候群 Spondylodysplastic Ehlers-Danlos syndrome MONDO:0007526 exactMatch http://glycosmos.org/glycogene/9037 9037 SEMA5A heparan sulfate proteoglycan binding | chemorepellent activity | semaphorin receptor binding | chondroitin sulfate proteoglycan binding | syndecan binding http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0035373 | http://purl.obolibrary.org/obo/GO_0045545 | | | | http://nanbyodata.jp/ontology/NANDO_1200684 NANDO:1200684 指定難病 Designated intractable disease 5p欠失症候群 5p deletion syndrome MONDO:0007404 exactMatch http://glycosmos.org/glycogene/9056 9056 SLC7A7 protein binding | L-arginine transmembrane transporter activity | basic amino acid transmembrane transporter activity | L-amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061459 | http://purl.obolibrary.org/obo/GO_0015174 | http://purl.obolibrary.org/obo/GO_0015179 9878049 | | | http://nanbyodata.jp/ontology/NANDO_1200809 NANDO:1200809 指定難病 Designated intractable disease リジン尿性蛋白不耐症 Lysinuric protein intolerance MONDO:0009109 exactMatch http://glycosmos.org/glycogene/7040 7040 TGFB1 type II transforming growth factor beta receptor binding | transforming growth factor beta receptor binding | enzyme binding | type III transforming growth factor beta receptor binding | protein-containing complex binding | cytokine activity | protein binding | protein serine/threonine kinase activator activity | growth factor activity | type I transforming growth factor beta receptor binding | identical protein binding | deubiquitinase activator activity http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005160 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0034714 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035800 11157754,1333888,8167376 | | 19366691 | 10092230,8167376 | | 24263861,26572508,32644293 | 10092230,10746731,10885742,10930463,11157754,1326540,15247411,15864306,17827158,18672106,19651619,2022183,20505824,20599762,20856203,20860622,21054789,2119582,21441952,21677751,25241761,25416956,25548275,27339457,28514442,29909984,32296183,33961781,35443807,7852346,8370410,8617200 | 32644293 | 31368162 | 10885742,8167376 | 21677751 | 32644293 http://nanbyodata.jp/ontology/NANDO_1200922 NANDO:1200922 指定難病 Designated intractable disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/7040 7040 TGFB1 type II transforming growth factor beta receptor binding | transforming growth factor beta receptor binding | enzyme binding | type III transforming growth factor beta receptor binding | protein-containing complex binding | cytokine activity | protein binding | protein serine/threonine kinase activator activity | growth factor activity | type I transforming growth factor beta receptor binding | identical protein binding | deubiquitinase activator activity http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005160 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0034714 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035800 11157754,1333888,8167376 | | 19366691 | 10092230,8167376 | | 24263861,26572508,32644293 | 10092230,10746731,10885742,10930463,11157754,1326540,15247411,15864306,17827158,18672106,19651619,2022183,20505824,20599762,20856203,20860622,21054789,2119582,21441952,21677751,25241761,25416956,25548275,27339457,28514442,29909984,32296183,33961781,35443807,7852346,8370410,8617200 | 32644293 | 31368162 | 10885742,8167376 | 21677751 | 32644293 http://nanbyodata.jp/ontology/NANDO_1201021 NANDO:1201021 指定難病 Designated intractable disease 膵囊胞線維症 Pancreatic cystic fibrosis MONDO:0009061 closeMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_1200607 NANDO:1200607 指定難病 Designated intractable disease 結節性硬化症 Tuberous sclerosis complex MONDO:0001734 exactMatch http://glycosmos.org/glycogene/7337 7337 UBE3A transcription coactivator activity | protein binding | zinc ion binding | metal ion binding | ubiquitin protein ligase activity | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0004842 | 12207887,12620801,15890204,16493710,16772533,17023019,17166906,21653829,22483108,22810586,22898364,23393263,24722188,24728990,25416956,25910212,26789255,29426014,31515488,31988313,32296183,32814053,33961781,7624774,9467941 | | | 30020076,7708685 | 12890688,24105792 http://nanbyodata.jp/ontology/NANDO_1200686 NANDO:1200686 指定難病 Designated intractable disease アンジェルマン症候群 Angelman syndrome MONDO:0007113 exactMatch http://glycosmos.org/glycogene/57526 57526 PCDH19 calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_1200599 NANDO:1200599 指定難病 Designated intractable disease PCDH19関連症候群 PCDH19-related syndrome MONDO:0010246 exactMatch http://glycosmos.org/glycogene/55644 55644 OSGEP metal ion binding | N(6)-L-threonylcarbamoyladenine synthase activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061711 | http://purl.obolibrary.org/obo/GO_0005515 | 28805828 | 23414517,23455922,27903914,28514442,32296183,32707033,33961781 http://nanbyodata.jp/ontology/NANDO_1200713 NANDO:1200713 指定難病 Designated intractable disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/9509 9509 ADAMTS2 zinc ion binding | metalloendopeptidase activity | metallopeptidase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0008237 | | 10417273 http://nanbyodata.jp/ontology/NANDO_1200651 NANDO:1200651 指定難病 Designated intractable disease 皮膚脆弱型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 exactMatch http://glycosmos.org/glycogene/9993 9993 DGCR2 carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | 33961781,34819669 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0008644 closeMatch http://glycosmos.org/glycogene/57122 57122 NUP107 protein binding | structural constituent of nuclear pore http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017056 11564755,15146057,17363900,24407287,26411495,26496610,27194810,30179222,33961781,35271311 | 11684705,15229283 http://nanbyodata.jp/ontology/NANDO_1200713 NANDO:1200713 指定難病 Designated intractable disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/113235 113235 SLC46A1 symporter activity | folic acid:proton symporter activity | folic acid binding | methotrexate transmembrane transporter activity | proton transmembrane transporter activity | folic acid transmembrane transporter activity | heme transmembrane transporter activity | transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015293 | http://purl.obolibrary.org/obo/GO_0140211 | http://purl.obolibrary.org/obo/GO_0005542 | http://purl.obolibrary.org/obo/GO_0015350 | http://purl.obolibrary.org/obo/GO_0015078 | http://purl.obolibrary.org/obo/GO_0008517 | http://purl.obolibrary.org/obo/GO_0015232 | http://purl.obolibrary.org/obo/GO_0022857 17475902 | 19389703,19762432,34040256 | | | 17129779 | 17129779,17475902,19762432,29344585,32893190,34619546 | 17129779 | http://nanbyodata.jp/ontology/NANDO_1200810 NANDO:1200810 指定難病 Designated intractable disease 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 exactMatch http://glycosmos.org/glycogene/9569 9569 GTF2IRD1 DNA-binding transcription factor activity | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 10575229 | 26275350,32296183 | 9774679 | 23229069,9774679 | 11438732 http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/182 182 JAG1 phospholipid binding | molecular adaptor activity | structural molecule activity | growth factor activity | calcium ion binding | Notch binding | protein binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005112 | http://purl.obolibrary.org/obo/GO_0005515 22465068 | 16427310 | 10679295 | 11067884 | | 11006133,9268641 | 18660822,23086448 http://nanbyodata.jp/ontology/NANDO_1200709 NANDO:1200709 指定難病 Designated intractable disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/9493 9493 KIF23 microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding | microtubule binding http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 | | | 11782313,14676191,15161933,15197175,15778465,16236794,16431929,18201571,18329369,19468300,20451386,22522702,22580824,22750944,26496610,27528609,28514442,32203420,33961781,35271311,36931259,39251607 | 11782313 http://nanbyodata.jp/ontology/NANDO_1200888 NANDO:1200888 指定難病 Designated intractable disease 先天性赤血球形成異常性貧血 Type III Congenital dyserythropoietic anemia type III MONDO:0007109 exactMatch http://glycosmos.org/glycogene/9031 9031 BAZ1B histone binding | non-membrane spanning protein tyrosine kinase activity | histone kinase activity | zinc ion binding | protein binding | ATP binding | histone H2AXY142 kinase activity http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0035173 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140801 | | | 11124022 | 11980720,15543136,16514417,30021884,33961781,35271311 | | 19092802 http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_1200671 NANDO:1200671 指定難病 Designated intractable disease ロスムンド・トムソン症候群 Rothmund-Thomson syndrome MONDO:0010002 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_1201058 NANDO:1201058 指定難病 Designated intractable disease ラパデリノ症候群 RAPADILINO syndrome MONDO:0009955 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_1201059 NANDO:1201059 指定難病 Designated intractable disease バレー・ジェロルド症候群 Baller-Gerold syndrome MONDO:0009039 exactMatch http://glycosmos.org/glycogene/26608 26608 TBL2 protein binding | phosphoprotein binding | protein kinase binding | translation initiation factor binding | RNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0003723 20562859,33961781 | 25393282 | 25393282 | 25393282 | 22658674 http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/715 715 C1R serine-type endopeptidase activity | identical protein binding | calcium ion binding | protein binding | serine-type peptidase activity | molecular sequestering activity http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0140313 11823416 | 20970424,31749804 | 20178990 | 12788922,17996945,2387866,28514442,28742139,31749804,33961781 | 2834284 | 20178990 http://nanbyodata.jp/ontology/NANDO_1201091 NANDO:1201091 指定難病 Designated intractable disease 歯周型エーラス・ダンロス症候群 Periodontal Ehlers-Danlos syndrome MONDO:0007527 exactMatch http://glycosmos.org/glycogene/716 716 C1S protein binding | serine-type endopeptidase activity | calcium ion binding | metal ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 12788922,17996945,2387866,25359215,25910212,28514442,28742139,31749804,32296183,33961781 | 11527969 | | | 12788922,2387866 http://nanbyodata.jp/ontology/NANDO_1201091 NANDO:1201091 指定難病 Designated intractable disease 歯周型エーラス・ダンロス症候群 Periodontal Ehlers-Danlos syndrome MONDO:0007527 exactMatch http://glycosmos.org/glycogene/7399 7399 USH2A identical protein binding | collagen binding | protein binding | myosin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017022 | 14676276 | 16301216,16434480,20440071,23351521 | http://nanbyodata.jp/ontology/NANDO_1200943 NANDO:1200943 指定難病 Designated intractable disease アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 exactMatch http://glycosmos.org/glycogene/51085 51085 MLXIPL RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | carbohydrate response element binding | DNA-binding transcription activator activity | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0035538 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 11230181 | | 10780788,11230181 | 18591247 | 21084751 | | 11230181 | | 21084751 | | 10780788 | 11230181 http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/7468 7468 NSD2 histone H3K36 methyltransferase activity | histone H3 methyltransferase activity | chromatin binding | sequence-specific DNA binding | protein binding | histone H3K36 trimethyltransferase activity | histone H3K36 dimethyltransferase activity | metal ion binding | zinc ion binding | histone H4K20 methyltransferase activity http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140955 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042799 24595546,33941880 | | | | 19481544,21293379,32296183 | | | | | http://nanbyodata.jp/ontology/NANDO_1200683 NANDO:1200683 指定難病 Designated intractable disease 4p欠失症候群 4p deletion syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/7469 7469 NELFA chromatin binding | protein binding | molecular adaptor activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0060090 | 12612062,20211142,24981860,25416956,26496610,28298427,28514442,32296183,33961781 | 30135580 http://nanbyodata.jp/ontology/NANDO_1200683 NANDO:1200683 指定難病 Designated intractable disease 4p欠失症候群 4p deletion syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/846 846 CASR integrin binding | protein kinase binding | G protein-coupled receptor activity | calcium ion binding | identical protein binding | protein homodimerization activity | phosphatidylinositol phospholipase C activity | protein binding | amino acid binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0044325 | | 27434672 | 27434672 | 34194040 | 16740594,27434672 | 7874174 | 20361938 | 27434672 | http://nanbyodata.jp/ontology/NANDO_1200921 NANDO:1200921 指定難病 Designated intractable disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/55746 55746 NUP133 structural constituent of nuclear pore | protein binding http://purl.obolibrary.org/obo/GO_0017056 | http://purl.obolibrary.org/obo/GO_0005515 11684705 | 11564755,15146057,17363900,24315095,24725412,24947832,26411495,26496610,27194810,30179222,31046837,33961781,34819669,35271311 http://nanbyodata.jp/ontology/NANDO_1200713 NANDO:1200713 指定難病 Designated intractable disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/7461 7461 CLIP2 microtubule binding | microtubule plus-end binding http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0051010 | http://nanbyodata.jp/ontology/NANDO_1200664 NANDO:1200664 指定難病 Designated intractable disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/53834 53834 FGFRL1 fibroblast growth factor receptor activity | identical protein binding | heparin binding | fibroblast growth factor binding http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0017134 12813049 | 18061161 | 12813049,18061161 | http://nanbyodata.jp/ontology/NANDO_1200683 NANDO:1200683 指定難病 Designated intractable disease 4p欠失症候群 4p deletion syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/3000 3000 GUCY2D signaling receptor activity | protein binding | protein homodimerization activity | adenylate cyclase activity | guanylate cyclase activity | protein-containing complex binding | ATP binding | GTP binding | protein kinase activity | peptide receptor activity http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004016 | http://purl.obolibrary.org/obo/GO_0004383 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0001653 1356371 | 21078983,21124868 | | | 21928830,30319355 | | | | | http://nanbyodata.jp/ontology/NANDO_1200939 NANDO:1200939 指定難病 Designated intractable disease 中心性輪紋状脈絡膜ジストロフィー Central areolar choroidal dystrophy MONDO:0008982 exactMatch http://glycosmos.org/glycogene/3239 3239 HOXD13 RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | chromatin binding | sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0003700 | 24789103 | 26581570 | | | 28473536 | http://nanbyodata.jp/ontology/NANDO_1200657 NANDO:1200657 指定難病 Designated intractable disease VATER症候群 VATER syndrome MONDO:0008642 exactMatch http://glycosmos.org/glycogene/5213 5213 PFKM metal ion binding | monosaccharide binding | identical protein binding | fructose-6-phosphate binding | ATP binding | kinase binding | AMP binding | 6-phosphofructokinase activity | fructose binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0048029 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070095 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0003872 | http://purl.obolibrary.org/obo/GO_0070061 | http://purl.obolibrary.org/obo/GO_0005515 | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721 http://nanbyodata.jp/ontology/NANDO_1200823 NANDO:1200823 指定難病 Designated intractable disease 筋型糖原病 Muscle glycogen storage disease MONDO:0009295 closeMatch http://glycosmos.org/glycogene/5644 5644 PRSS1 metal ion binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004252 | 8841182 http://nanbyodata.jp/ontology/NANDO_1200921 NANDO:1200921 指定難病 Designated intractable disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/5645 5645 PRSS2 serine-type endopeptidase activity | protein binding | calcium ion binding | serine-type peptidase activity | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0004222 12709065,12731883 | 16192646 | 12709065 | | http://nanbyodata.jp/ontology/NANDO_1200921 NANDO:1200921 指定難病 Designated intractable disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/5961 5961 PRPH2 protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | 32814053 http://nanbyodata.jp/ontology/NANDO_1200939 NANDO:1200939 指定難病 Designated intractable disease 中心性輪紋状脈絡膜ジストロフィー Central areolar choroidal dystrophy MONDO:0008982 exactMatch http://glycosmos.org/glycogene/6495 6495 SIX1 sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding | DNA-binding transcription factor activity | transcription coactivator binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 28473536 | | 19497856 | 15141091 | | 19497856 | | 16670092 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 15141091 | 15141091 http://nanbyodata.jp/ontology/NANDO_1200675 NANDO:1200675 指定難病 Designated intractable disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 exactMatch http://glycosmos.org/glycogene/147912 147912 SIX5 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | | 16713569 | http://nanbyodata.jp/ontology/NANDO_1200675 NANDO:1200675 指定難病 Designated intractable disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 exactMatch http://glycosmos.org/glycogene/4070 4070 TACSTD2 protein binding http://purl.obolibrary.org/obo/GO_0005515 15607035,32296183 http://nanbyodata.jp/ontology/NANDO_1201006 NANDO:1201006 指定難病 Designated intractable disease 膠様滴状角膜ジストロフィー Gelatinous drop-like corneal dystrophy MONDO:0008777 exactMatch http://glycosmos.org/glycogene/56999 56999 ADAMTS9 metallopeptidase activity | zinc ion binding | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 12514189 | | http://nanbyodata.jp/ontology/NANDO_1201036 NANDO:1201036 指定難病 Designated intractable disease ネフロン癆 Nephronophthisis MONDO:0009728 closeMatch http://glycosmos.org/glycogene/64072 64072 CDH23 beta-catenin binding | calcium ion binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | | 12485990 | http://nanbyodata.jp/ontology/NANDO_1200942 NANDO:1200942 指定難病 Designated intractable disease アッシャー症候群1型 Usher syndrome type I MONDO:0010168 exactMatch http://glycosmos.org/glycogene/64240 64240 ABCG5 ATP hydrolysis activity | protein heterodimerization activity | metal ion binding | ATP binding | ABC-type transporter activity | protein binding | cholesterol transfer activity | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042626 16893193 | 16870176 | | 16893193 | | 16870176,17474147,27144356 | 14504269 | 27144356 http://nanbyodata.jp/ontology/NANDO_1200853 NANDO:1200853 指定難病 Designated intractable disease シトステロール血症 Sitosterolemia MONDO:0008863 exactMatch http://glycosmos.org/glycogene/64241 64241 ABCG8 cholesterol transfer activity | ATP hydrolysis activity | ABC-type transporter activity | protein binding | ATP binding | protein heterodimerization activity | metal ion binding | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042626 14504269 | 16893193 | | 16870176,27144356,32296183 | 16893193 | 16870176 | | 27144356 http://nanbyodata.jp/ontology/NANDO_1200853 NANDO:1200853 指定難病 Designated intractable disease シトステロール血症 Sitosterolemia MONDO:0008863 exactMatch http://glycosmos.org/glycogene/64324 64324 NSD1 histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear retinoic acid receptor binding | nuclear retinoid X receptor binding | histone H3K36 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K36 dimethyltransferase activity | nuclear thyroid hormone receptor binding | histone H3 methyltransferase activity | protein binding | transcription coregulator activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0042799 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496 http://nanbyodata.jp/ontology/NANDO_1200659 NANDO:1200659 指定難病 Designated intractable disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/8220 8220 ESS2 protein binding http://purl.obolibrary.org/obo/GO_0005515 22365833,28514442,32296183,32814053,33961781,34694367 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0008644 closeMatch http://glycosmos.org/glycogene/54209 54209 TREM2 protein binding | transmembrane signaling receptor activity | protein-containing complex binding | kinase activator activity | semaphorin receptor binding | amyloid-beta binding | lipid binding | lipoprotein particle binding | high-density lipoprotein particle binding | semaphorin receptor activity | lipoteichoic acid binding | scaffold protein binding | apolipoprotein A-I binding | phosphatidylethanolamine binding | lipopolysaccharide binding | beta-catenin binding | apolipoprotein binding | peptidoglycan binding | phosphatidylserine binding | signaling receptor activity | protein tyrosine kinase binding | very-low-density lipoprotein particle binding | sulfatide binding | phospholipid binding | low-density lipoprotein particle binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0070891 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0042834 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030169 11602640,28490631,29611543,30341064 | 29518356,30333625 | 29518356 | 31902528 | | 29518356 | 29518356 | 27477018 | 27477018 | | | 11602640 | 27477018 | 31101881 | | 30683932 | 27477018 | | 31101881,31902528 | 29518356,32514138 | 29518356 | 27477018 | 31902528 | 27995897 | 27477018 http://nanbyodata.jp/ontology/NANDO_1200658 NANDO:1200658 指定難病 Designated intractable disease 那須・ハコラ病 Nasu-Hakola disease MONDO:0009092 exactMatch http://glycosmos.org/glycogene/8270 8270 LAGE3 protein binding http://purl.obolibrary.org/obo/GO_0005515 25416956,27903914,28514442,31481669,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200713 NANDO:1200713 指定難病 Designated intractable disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/8924 8924 HERC2 ubiquitin protein ligase binding | ubiquitin protein ligase activity | SUMO binding | guanyl-nucleotide exchange factor activity | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0032183 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 22508508 | 20304803 | 22508508 | 9949213 | 20023648,20304803,28514442,29426014,31413325,33961781,35140242 | http://nanbyodata.jp/ontology/NANDO_1200678 NANDO:1200678 指定難病 Designated intractable disease プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 exactMatch http://glycosmos.org/glycogene/4000 4000 LMNA structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 3453101,8344919 | 25910212 | 10381623,10514485,10727209,11313760,11587540,11801724,14597414,15140953,15161933,15671068,16247757,19323649,19933576,20000738,20467437,20580717,20618440,21346760,21418524,21949239,21988832,21993218,22399800,22555292,23539603,23658700,23977161,24375709,24981860,25399868,25416956,25910212,26524528,29568061,29997244,30021884,30488537,31467278,31515488,31548606,32296183,32814053,33961781,35271311,35311970,37398436 | 2188730,2344612,24741066,37788673,37832547 | http://nanbyodata.jp/ontology/NANDO_1201007 NANDO:1201007 指定難病 Designated intractable disease ハッチンソン・ギルフォード症候群 Hutchinson-Gilford syndrome MONDO:0008310 exactMatch http://glycosmos.org/glycogene/54551 54551 MAGEL2 protein binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004842 20864041,23452853,26365382,32296183 | 23452853 http://nanbyodata.jp/ontology/NANDO_1200678 NANDO:1200678 指定難病 Designated intractable disease プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 exactMatch http://glycosmos.org/glycogene/26154 26154 ABCA12 lipid transporter activity | ATPase-coupled intramembrane lipid transporter activity | apolipoprotein A-I receptor binding | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ABC-type transporter activity | ATP binding | protein binding | signaling receptor binding | ATPase-coupled lipid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0034040 16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253 http://nanbyodata.jp/ontology/NANDO_1200614 NANDO:1200614 指定難病 Designated intractable disease 道化師様魚鱗癬 Harlequin ichthyosis MONDO:0009443 exactMatch http://glycosmos.org/glycogene/65217 65217 PCDH15 calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_1200942 NANDO:1200942 指定難病 Designated intractable disease アッシャー症候群1型 Usher syndrome type I MONDO:0010168 exactMatch http://glycosmos.org/glycogene/79955 79955 PDZD7 identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | 19028668,20440071 http://nanbyodata.jp/ontology/NANDO_1200943 NANDO:1200943 指定難病 Designated intractable disease アッシャー症候群2型 Usher syndrome Type II MONDO:0016484 exactMatch http://glycosmos.org/glycogene/540 540 ATP7B ATP hydrolysis activity | copper ion binding | protein binding | ATP binding | P-type divalent copper transporter activity | P-type monovalent copper transporter activity | copper ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005375 | 12029094,14709553 | 12968035,16554302,16676348,16884690,17919502 | 15205462,16567646 | 12763797,16472602,9837819 | | 26004889 http://nanbyodata.jp/ontology/NANDO_1200655 NANDO:1200655 指定難病 Designated intractable disease ウィルソン病 Wilson disease MONDO:0010200 exactMatch http://glycosmos.org/glycogene/51816 51816 ADA2 zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0042803 20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/51816 51816 ADA2 zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0042803 20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294 http://nanbyodata.jp/ontology/NANDO_1200995 NANDO:1200995 指定難病 Designated intractable disease ADA2欠損症 Adenosine deaminase 2 deficiency MONDO:0014306 exactMatch http://glycosmos.org/glycogene/144568 144568 A2ML1 peptidase inhibitor activity | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0030414 | http://purl.obolibrary.org/obo/GO_0004867 16298998 | http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/10695 10695 CNPY3 signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | 28514442,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/63976 63976 PRDM16 DNA-binding transcription repressor activity, RNA polymerase II-specific | histone H3K9 methyltransferase activity | transcription coregulator activity | transcription cis-regulatory region binding | histone H3 methyltransferase activity | zinc ion binding | DNA-binding transcription activator activity, RNA polymerase II-specific | histone H3K9me2 methyltransferase activity | sequence-specific DNA binding | transcription coactivator activity | histone H3K9 monomethyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | metal ion binding | protein binding | DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 12816872 | | | 12816872 | | | | | 12816872 | | | | | 19049980,21516122,30462309 | 25578880 http://nanbyodata.jp/ontology/NANDO_1200682 NANDO:1200682 指定難病 Designated intractable disease 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 exactMatch http://glycosmos.org/glycogene/1235 1235 CCR6 protein binding | signaling receptor activity | C-C chemokine receptor activity | C-C chemokine binding | chemokine receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0016493 | http://purl.obolibrary.org/obo/GO_0019957 | http://purl.obolibrary.org/obo/GO_0004950 20068036,25122636 | 9186513 | 12081481,20068036 | 12081481,20068036 | 11001880 http://nanbyodata.jp/ontology/NANDO_1201010 NANDO:1201010 指定難病 Designated intractable disease びまん皮膚硬化型全身性強皮症 Diffuse cutaneous systemic sclerosis MONDO:0016356 exactMatch http://glycosmos.org/glycogene/1235 1235 CCR6 protein binding | signaling receptor activity | C-C chemokine receptor activity | C-C chemokine binding | chemokine receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0016493 | http://purl.obolibrary.org/obo/GO_0019957 | http://purl.obolibrary.org/obo/GO_0004950 20068036,25122636 | 9186513 | 12081481,20068036 | 12081481,20068036 | 11001880 http://nanbyodata.jp/ontology/NANDO_1201011 NANDO:1201011 指定難病 Designated intractable disease 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 exactMatch http://glycosmos.org/glycogene/22800 22800 RRAS2 GTPase activity | GTP binding | protein binding | GDP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019003 31130282 | | 12620389,19060904,28514442,31515488,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/94 94 ACVRL1 ATP binding | transforming growth factor beta binding | transmembrane receptor protein serine/threonine kinase activity | activin binding | activin receptor activity, type II | transforming growth factor beta receptor activity, type I | activin receptor activity, type I | SMAD binding | transforming growth factor beta receptor activity, type II | protein binding | metal ion binding | transforming growth factor beta receptor activity, type III | protein serine/threonine kinase activity | protein kinase binding | transforming growth factor beta receptor activity | BMP receptor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0098821 12065756 | 8242742 | 8242742 | 8242742 | | 8242742 | 22718755,8242742 | 12065756 | | 11266516,11278302,12393874,14580334,15611116,15702480,16049014,17068149,18974388,21791611,23868260,28514442,28564608,33961781,8242742 | | | 12065756,12393874 | 19592636 | 8242742 | 12065756,26176610,32082362 http://nanbyodata.jp/ontology/NANDO_1200744 NANDO:1200744 指定難病 Designated intractable disease オスラー病 Osler disease MONDO:0019180 exactMatch http://glycosmos.org/glycogene/93183 93183 PIGM alpha-1,4-mannosyltransferase activity | mannosyltransferase activity | glycolipid mannosyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0051751 | http://purl.obolibrary.org/obo/GO_0000030 | http://purl.obolibrary.org/obo/GO_0004376 | http://purl.obolibrary.org/obo/GO_0005515 | | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_1200983 NANDO:1200983 指定難病 Designated intractable disease 先天性グリコシルホスファチジルイノシトール欠損症 Inherited glycosylphosphatidylinositol deficiency MONDO:0012465 exactMatch http://glycosmos.org/glycogene/1106 1106 CHD2 RNA binding | protein binding | ATP-dependent H3-H4 histone complex chaperone activity | histone binding | chromatin extrusion motor activity | double-stranded DNA helicase activity | single-stranded 3'-5' DNA helicase activity | ATP hydrolysis activity | cohesin loader activity | ATP binding | forked DNA-dependent helicase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | ATP-dependent H2AZ histone chaperone activity | ATP-dependent chromatin remodeler activity | DNA binding | DNA clamp loader activity | four-way junction helicase activity http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0009378 22658674,22681889 | 21516116,25416956,29153328,32296183 | | | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200591 NANDO:1200591 指定難病 Designated intractable disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/1303 1303 COL12A1 extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0030020 1427837,20551380,23979707,25037231,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1201090 NANDO:1201090 指定難病 Designated intractable disease ミオパチー型エーラス・ダンロス症候群 Myopathic Ehlers-Danlos syndrome MONDO:0034022 closeMatch http://glycosmos.org/glycogene/1281 1281 COL3A1 protease binding | integrin binding | metal ion binding | extracellular matrix structural constituent conferring tensile strength | SMAD binding | extracellular matrix structural constituent | platelet-derived growth factor binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 14970208,9573018 | | 25037231,27559042,28327460,28344315,28675934 | | 7487954,9036918 | 8900172 | 16754721,16912226,19011090,20015075,28258187,2839553,32296183 http://nanbyodata.jp/ontology/NANDO_1200648 NANDO:1200648 指定難病 Designated intractable disease 血管型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, vascular type MONDO:0017314 exactMatch http://glycosmos.org/glycogene/1287 1287 COL4A5 protein binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 32296183,32814053 | 28344315,28675934 http://nanbyodata.jp/ontology/NANDO_1200712 NANDO:1200712 指定難病 Designated intractable disease アルポート症候群 Alport's syndrome MONDO:0018965 exactMatch http://glycosmos.org/glycogene/1312 1312 COMT O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0008171 | http://purl.obolibrary.org/obo/GO_0016206 | http://purl.obolibrary.org/obo/GO_0008168 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/10297 10297 APC2 protein binding | beta-catenin binding | microtubule binding | gamma-catenin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0045295 10644998,10646860 | 9823329 | | http://nanbyodata.jp/ontology/NANDO_1200679 NANDO:1200679 指定難病 Designated intractable disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/1438 1438 CSF2RA signaling receptor activity | growth hormone receptor activity | cytokine receptor activity | protein binding | peptide hormone binding | cytokine binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004903 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0019955 1358805 | | | 25416956 | | http://nanbyodata.jp/ontology/NANDO_1200746 NANDO:1200746 指定難病 Designated intractable disease 肺胞蛋白症 Pulmonary alveolar proteinosis MONDO:0012580 closeMatch http://glycosmos.org/glycogene/1438 1438 CSF2RA signaling receptor activity | growth hormone receptor activity | cytokine receptor activity | protein binding | peptide hormone binding | cytokine binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004903 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0019955 1358805 | | | 25416956 | | http://nanbyodata.jp/ontology/NANDO_1200750 NANDO:1200750 指定難病 Designated intractable disease 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 exactMatch http://glycosmos.org/glycogene/1439 1439 CSF2RB interleukin-3 receptor activity | cytokine receptor activity | signaling receptor activity | interleukin-5 receptor activity | protein binding | coreceptor activity http://purl.obolibrary.org/obo/GO_0004912 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004914 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015026 9410898 | | 9410898 | 9410898 | 1495999,16437163,17828305,18692472,20802515,29374162,9516124 | 7957082,8649415 http://nanbyodata.jp/ontology/NANDO_1200746 NANDO:1200746 指定難病 Designated intractable disease 肺胞蛋白症 Pulmonary alveolar proteinosis MONDO:0012580 closeMatch http://glycosmos.org/glycogene/1439 1439 CSF2RB interleukin-3 receptor activity | cytokine receptor activity | signaling receptor activity | interleukin-5 receptor activity | protein binding | coreceptor activity http://purl.obolibrary.org/obo/GO_0004912 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004914 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015026 9410898 | | 9410898 | 9410898 | 1495999,16437163,17828305,18692472,20802515,29374162,9516124 | 7957082,8649415 http://nanbyodata.jp/ontology/NANDO_1200750 NANDO:1200750 指定難病 Designated intractable disease 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 exactMatch http://glycosmos.org/glycogene/1490 1490 CCN2 integrin binding | heparin binding | protein binding | insulin-like growth factor binding http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005520 | | 16457822,21629692,30232710,9927660 | 9371786 http://nanbyodata.jp/ontology/NANDO_1201010 NANDO:1201010 指定難病 Designated intractable disease びまん皮膚硬化型全身性強皮症 Diffuse cutaneous systemic sclerosis MONDO:0016356 exactMatch http://glycosmos.org/glycogene/1490 1490 CCN2 integrin binding | heparin binding | protein binding | insulin-like growth factor binding http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005520 | | 16457822,21629692,30232710,9927660 | 9371786 http://nanbyodata.jp/ontology/NANDO_1201011 NANDO:1201011 指定難病 Designated intractable disease 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 exactMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_1201009 NANDO:1201009 指定難病 Designated intractable disease 全身型多発血管炎性肉芽腫症 Systemic granulomatosis with polyangiitis MONDO:0012105 closeMatch http://glycosmos.org/glycogene/1576 1576 CYP3A4 estrogen 2-hydroxylase activity | quinine 3-monooxygenase activity | 1-alpha,25-dihydroxyvitamin D3 23-hydroxylase activity | monooxygenase activity | oxygen binding | steroid hydroxylase activity | anandamide 14,15 epoxidase activity | testosterone 6-beta-hydroxylase activity | caffeine oxidase activity | retinoic acid 4-hydroxylase activity | vitamin D 24-hydroxylase activity | anandamide 11,12 epoxidase activity | vitamin D3 25-hydroxylase activity | iron ion binding | enzyme binding | 1,8-cineole 2-exo-monooxygenase activity | heme binding | protein binding | estrogen 16-alpha-hydroxylase activity | oxidoreductase activity | anandamide 8,9 epoxidase activity | steroid binding http://purl.obolibrary.org/obo/GO_0101021 | http://purl.obolibrary.org/obo/GO_0050591 | http://purl.obolibrary.org/obo/GO_0062181 | http://purl.obolibrary.org/obo/GO_0004497 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0008395 | http://purl.obolibrary.org/obo/GO_0062189 | http://purl.obolibrary.org/obo/GO_0050649 | http://purl.obolibrary.org/obo/GO_0034875 | http://purl.obolibrary.org/obo/GO_0008401 | http://purl.obolibrary.org/obo/GO_0070576 | http://purl.obolibrary.org/obo/GO_0062188 | http://purl.obolibrary.org/obo/GO_0030343 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0102320 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0101020 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0062187 | http://purl.obolibrary.org/obo/GO_0005496 12865317 | | 29461981 | 15327587 | 2492107,3460094 | 18356043 | | 3259858 | 18619574 | 11093772 | 15546903 | | 15546903 | 15256616 | 15680923 | | | 26988023,32814053 | 11555828,14559847 | 15039299,16401082,19219744 | | 15256616 http://nanbyodata.jp/ontology/NANDO_1201094 NANDO:1201094 指定難病 Designated intractable disease ビタミンD依存症 3型 Vitamin D-dependent rickets, type 3 MONDO:0033640 exactMatch http://glycosmos.org/glycogene/1759 1759 DNM1 protein kinase binding | GTP binding | microtubule binding | RNA binding | identical protein binding | protein homodimerization activity | phosphatidylinositol-3,4,5-trisphosphate binding | protein binding | GDP binding | GTPase activity | phosphatidylinositol-4,5-bisphosphate binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005546 | | | 22681889 | 20428113,20700106,21927000,21962517,26302298,30069048 | 20428113 | 9765310 | 10206341,12791276,15252009,15703209,16234328,16432212,17474147,17500595,18353773,20935625,21706016,21900206,24282027,29949766,31980649,33961781,35271311,37871017,9922133 | | 20428113 | 10074457,9765310 http://nanbyodata.jp/ontology/NANDO_1200591 NANDO:1200591 指定難病 Designated intractable disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/10555 10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase activity http://purl.obolibrary.org/obo/GO_0003841 15629135,19075029,21873652,9212163,9242711,9461603 http://nanbyodata.jp/ontology/NANDO_1200859 NANDO:1200859 指定難病 Designated intractable disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/24 24 ABCA4 ATP binding | phospholipid transporter activity | retinol transmembrane transporter activity | N-retinylidene-phosphatidylethanolamine flippase activity | ABC-type transporter activity | 11-cis retinal binding | flippase activity | ATPase-coupled transmembrane transporter activity | phosphatidylethanolamine flippase activity | all-trans retinal binding | GTPase activity | ATP hydrolysis activity | ATPase-coupled intramembrane lipid transporter activity | retinoid binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0034632 | http://purl.obolibrary.org/obo/GO_0140347 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005502 | http://purl.obolibrary.org/obo/GO_0140327 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0090555 | http://purl.obolibrary.org/obo/GO_0005503 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0005501 | | | | | 23144455 | 24097981 | | 24097981 | 20404325,29847635,33375396 | | 29847635,33375396 | | http://nanbyodata.jp/ontology/NANDO_1200933 NANDO:1200933 指定難病 Designated intractable disease Stargardt病 Stargardt disease MONDO:0019353 exactMatch http://glycosmos.org/glycogene/3663 3663 IRF5 sequence-specific DNA binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding | identical protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0120283 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000978 23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | http://nanbyodata.jp/ontology/NANDO_1201010 NANDO:1201010 指定難病 Designated intractable disease びまん皮膚硬化型全身性強皮症 Diffuse cutaneous systemic sclerosis MONDO:0016356 exactMatch http://glycosmos.org/glycogene/3663 3663 IRF5 sequence-specific DNA binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding | identical protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0120283 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000978 23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | http://nanbyodata.jp/ontology/NANDO_1201011 NANDO:1201011 指定難病 Designated intractable disease 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 exactMatch http://glycosmos.org/glycogene/3736 3736 KCNA1 disordered domain specific binding | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated potassium channel activity | delayed rectifier potassium channel activity | protein binding | voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905030 10585425 | | 10585425,19912772 | 19912772,8845167 | 11937501,19968958,23903368,32296183 | http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6792 6792 CDKL5 cyclin-dependent protein serine/threonine kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | small GTPase binding | kinase activity | ATP binding | protein kinase activity http://purl.obolibrary.org/obo/GO_0004693 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6792 6792 CDKL5 cyclin-dependent protein serine/threonine kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | small GTPase binding | kinase activity | ATP binding | protein kinase activity http://purl.obolibrary.org/obo/GO_0004693 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6785 6785 ELOVL4 fatty acid elongase activity | G protein-coupled photoreceptor activity | protein binding http://purl.obolibrary.org/obo/GO_0009922 | http://purl.obolibrary.org/obo/GO_0008020 | http://purl.obolibrary.org/obo/GO_0005515 | 11138005 | 20937905,32296183 http://nanbyodata.jp/ontology/NANDO_1200933 NANDO:1200933 指定難病 Designated intractable disease Stargardt病 Stargardt disease MONDO:0019353 exactMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/6812 6812 STXBP1 protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043274 | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6812 6812 STXBP1 protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043274 | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/23236 23236 PLCB1 phosphatidylinositol-4,5-bisphosphate binding | identical protein binding | phospholipase C activity | calmodulin binding | enzyme binding | phosphatidylinositol phospholipase C activity | protein binding | lamin binding | GTPase activator activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005509 12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/23236 23236 PLCB1 phosphatidylinositol-4,5-bisphosphate binding | identical protein binding | phospholipase C activity | calmodulin binding | enzyme binding | phosphatidylinositol phospholipase C activity | protein binding | lamin binding | GTPase activator activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005509 12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | http://nanbyodata.jp/ontology/NANDO_1200595 NANDO:1200595 指定難病 Designated intractable disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/25939 25939 SAMHD1 single-stranded DNA binding | deoxynucleoside triphosphate hydrolase activity | dGTPase activity | identical protein binding | RNA binding | dGTP binding | zinc ion binding | RNA nuclease activity | GTP binding | protein binding | nucleic acid binding http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0106375 | http://purl.obolibrary.org/obo/GO_0008832 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0032567 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004540 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003676 29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318 http://nanbyodata.jp/ontology/NANDO_1200996 NANDO:1200996 指定難病 Designated intractable disease エカルディ・グティエール症候群 Aicardi-Goutières Syndrome MONDO:0018866 exactMatch http://glycosmos.org/glycogene/23522 23522 KAT6B histone H3K18 acetyltransferase activity | metal ion binding | chromatin binding | DNA binding | histone H2BK5 acetyltransferase activity | protein binding | histone H4K8 acetyltransferase activity | histone H4K5 acetyltransferase activity | histone H3K27 acetyltransferase activity | histone acetyltransferase activity | transcription coactivator activity | histone H3K122 acetyltransferase activity | histone H3 acetyltransferase activity | histone H4K16 acetyltransferase activity | histone H3K36 acetyltransferase activity | zinc ion binding | histone H3K9 acetyltransferase activity | protein-containing complex binding | histone H2AK9 acetyltransferase activity | histone H4K12 acetyltransferase activity | histone H2BK12 acetyltransferase activity | histone H3K23 acetyltransferase activity | histone H3K4 acetyltransferase activity | transcription coregulator activity | histone H3K56 acetyltransferase activity | peptide-lysine-N-acetyltransferase activity | histone H2AK5 acetyltransferase activity | histone H3K14 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0044014 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0010484 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0036408 | | | | | 11965546 | | | | 10497217,11965546 | 11965546 | | | | | | | | | | | | | | | 11965546 | | 16387653 http://nanbyodata.jp/ontology/NANDO_1200681 NANDO:1200681 指定難病 Designated intractable disease ヤング・シンプソン症候群 Young-Simpson syndrome MONDO:0011365 exactMatch http://glycosmos.org/glycogene/23389 23389 MED13L transcription coactivator activity | transcription coregulator activity http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003712 22249253 | http://nanbyodata.jp/ontology/NANDO_1200698 NANDO:1200698 指定難病 Designated intractable disease 修正大血管転位症 Corrected transposition of great arteries MONDO:0019443 exactMatch http://glycosmos.org/glycogene/284098 284098 PIGW O-acyltransferase activity | glucosaminyl-phosphatidylinositol O-acyltransferase activity http://purl.obolibrary.org/obo/GO_0008374 | http://purl.obolibrary.org/obo/GO_0032216 | http://nanbyodata.jp/ontology/NANDO_1200983 NANDO:1200983 指定難病 Designated intractable disease 先天性グリコシルホスファチジルイノシトール欠損症 Inherited glycosylphosphatidylinositol deficiency MONDO:0012465 exactMatch http://glycosmos.org/glycogene/84131 84131 CEP78 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200944 NANDO:1200944 指定難病 Designated intractable disease アッシャー症候群3型 Usher syndrome Type III MONDO:0016485 exactMatch http://glycosmos.org/glycogene/25836 25836 NIPBL transcription corepressor activity | histone deacetylase binding | cohesin loader activity | chromo shadow domain binding | chromatin binding | mediator complex binding | promoter-specific chromatin binding | protein binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0005515 18854353 | 18854353 | 22628566 | 15882967 | | | | 16682347,16802858,17577209,21934712,22628566,26496610 http://nanbyodata.jp/ontology/NANDO_1200960 NANDO:1200960 指定難病 Designated intractable disease コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/11152 11152 WDR45 protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0080025 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_1901981 | http://purl.obolibrary.org/obo/GO_0032266 20562859,28561066,31412244,33961781,34524948,35271311 | | 28561066 | | 28561066 | 31271352 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/23312 23312 DMXL2 small GTPase binding http://purl.obolibrary.org/obo/GO_0031267 11809763 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/2022 2022 ENG transmembrane signaling receptor activity | coreceptor activity | BMP binding | protein binding | signaling receptor activator activity | transforming growth factor beta binding | transforming growth factor beta receptor activity | type II transforming growth factor beta receptor binding | galactose binding | protein homodimerization activity | type I transforming growth factor beta receptor binding | glycosaminoglycan binding | identical protein binding | activin binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030546 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048185 18974388 | 12015308,18223685 | 9872992 | 15702480,20856203,22940691,23868260,28564608,31540324,9872992 | 12015308 | 1326540,8370410,9872992 | | 12015308,8294451 | 3262645 | 8370410 | 12015308,18974388,8294451 | 3262645,8294451 | 28564608 | 11382917 http://nanbyodata.jp/ontology/NANDO_1200744 NANDO:1200744 指定難病 Designated intractable disease オスラー病 Osler disease MONDO:0019180 exactMatch http://glycosmos.org/glycogene/2073 2073 ERCC5 endonuclease activity | endodeoxyribonuclease activity | single-stranded DNA binding | metal ion binding | RNA polymerase II complex binding | bubble DNA binding | protein homodimerization activity | double-stranded DNA binding | DNA endonuclease activity | damaged DNA binding | enzyme activator activity | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0004519 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000993 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 32522879,32821917 | 12644470,8090225 | 12644470 | | 16246722 | 16246722,32821917 | 10026181 | 12644470,8090225 | 12644470,8090225 | 32821917 | 9927729 | 11259578 | 15358233,16246722,17268471,26833090,8652557,9305916,9927729 http://nanbyodata.jp/ontology/NANDO_1200608 NANDO:1200608 指定難病 Designated intractable disease 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 exactMatch http://glycosmos.org/glycogene/2187 2187 FANCB protein binding http://purl.obolibrary.org/obo/GO_0005515 17396147 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2177 2177 FANCD2 protein binding | DNA polymerase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070182 12874027,15115758,17460694,18212739,19609304,20603015,20603016,20603073,20805509,35384245 | 19995904 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2189 2189 FANCG damaged DNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0005515 9806548 | 10627486,10652215,11063725,12649160,16189514,17060495,17289582,17396147,19102630,22458338,28514442,31467278,32296183,32814053,33961781,37398436 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2332 2332 FMR1 protein heterodimerization activity | mRNA binding | N6-methyladenosine-containing RNA reader activity | molecular condensate scaffold activity | RNA strand annealing activity | G-quadruplex RNA binding | poly(G) binding | RNA stem-loop binding | mRNA 5'-UTR binding | poly(A) binding | microtubule binding | dynein complex binding | protein binding | chromatin binding | methylated histone binding | translation initiation factor binding | poly(U) RNA binding | transmembrane transporter binding | signaling adaptor activity | translation regulator activity | identical protein binding | protein homodimerization activity | miRNA binding | RNA binding | mRNA 3'-UTR binding | translation repressor activity | sequence-specific mRNA binding | siRNA binding | ribosome binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_1990247 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0033592 | http://purl.obolibrary.org/obo/GO_0002151 | http://purl.obolibrary.org/obo/GO_0034046 | http://purl.obolibrary.org/obo/GO_0035613 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0008143 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0045182 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_1990825 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0043022 7489725 | 11157796,18936162,25561520,30765518,31439799 | 31753916 | 30765518,31439799 | 17057366 | 18653529,21642970,25464849,26374839 | 24204304,7688265 | 15805463,19166269 | 19166269 | | | | 10556305,11157796,11438699,12837692,15380484,15381419,16407062,16571602,18093976,18936162,21653829,21771594,24514761,24658146,24981860,25416956,25464849,26949739,31413325,31439799,32525608,32814053,33961781,36950384,37207277,39251607,7489725 | | 24813610 | 24658146 | 24204304,7688265,8156595 | 25561520 | 31439799 | | 11157796,17850748,21446998,31413325 | 7489725 | 17057366 | 10496225,15381419,22658674,22681889 | 17417632 | 11157796 | 12927206,23235829 | 17057366 | 24658146 http://nanbyodata.jp/ontology/NANDO_1200692 NANDO:1200692 指定難病 Designated intractable disease 脆弱X症候群 Fragile X syndrome MONDO:0010383 exactMatch http://glycosmos.org/glycogene/2353 2353 FOS sequence-specific double-stranded DNA binding | protein-containing complex binding | RNA polymerase II core promoter sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity, RNA polymerase II-specific | identical protein binding | transcription cis-regulatory region binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | transcription coregulator binding | RNA polymerase II-specific DNA-binding transcription factor binding | R-SMAD binding | protein binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0005515 28473536 | | 10704222 | 30670568 | | | 23661758,25609649 | 9732876 | 30670568 | 10704222,9732876 | 10523647 | 10508860 | 9732876 | 12788789,16511568,18172215,19028685,19064921,20102225,20195357,20211142,20511396,20936779,21199371,22308434,23602568,23661758,24029232,25241761,25609649,26496610,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35140242,37398436,7816143 http://nanbyodata.jp/ontology/NANDO_1200859 NANDO:1200859 指定難病 Designated intractable disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/2554 2554 GABRA1 benzodiazepine receptor activity | chloride channel activity | GABA-gated chloride ion channel activity | GABA receptor activity | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | GABA-A receptor activity http://purl.obolibrary.org/obo/GO_0008503 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 | http://purl.obolibrary.org/obo/GO_0016917 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0004890 | | 23909897,2538761,30602789,9039914 | | | 23909897,30602789 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/2562 2562 GABRB3 identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030594 | http://purl.obolibrary.org/obo/GO_0004890 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914 http://nanbyodata.jp/ontology/NANDO_1200591 NANDO:1200591 指定難病 Designated intractable disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/2562 2562 GABRB3 identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030594 | http://purl.obolibrary.org/obo/GO_0004890 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/2563 2563 GABRD chloride channel activity | neurotransmitter receptor activity | GABA-A receptor activity | protein binding | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030594 | http://purl.obolibrary.org/obo/GO_0004890 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1904315 | | | 16189514,25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_1200682 NANDO:1200682 指定難病 Designated intractable disease 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 exactMatch http://glycosmos.org/glycogene/2657 2657 GDF1 cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://nanbyodata.jp/ontology/NANDO_1200698 NANDO:1200698 指定難病 Designated intractable disease 修正大血管転位症 Corrected transposition of great arteries MONDO:0019443 exactMatch http://glycosmos.org/glycogene/2658 2658 GDF2 cytokine activity | growth factor activity | protein serine/threonine kinase activator activity | protein binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0005515 32082362 | 19903896,7664647 | 7664647 | 17068149,28564608 http://nanbyodata.jp/ontology/NANDO_1200744 NANDO:1200744 指定難病 Designated intractable disease オスラー病 Osler disease MONDO:0019180 exactMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/2731 2731 GLDC glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0004375 | http://purl.obolibrary.org/obo/GO_0070280 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0042803 | | 28244183 | | | 2268343 | http://nanbyodata.jp/ontology/NANDO_1200984 NANDO:1200984 指定難病 Designated intractable disease 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia MONDO:0011612 exactMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_1201076 NANDO:1201076 指定難病 Designated intractable disease 偽性副甲状腺機能低下症Ib型 Pseudohypoparathyroidism type 1B MONDO:0011301 exactMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_1201077 NANDO:1201077 指定難病 Designated intractable disease 偽性副甲状腺機能低下症Ic型 Pseudohypoparathyroidism type 1C MONDO:0012911 exactMatch http://glycosmos.org/glycogene/2812 2812 GP1BB identical protein binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 18674540 | 3353370 | 11943773,18674540,18789323,4044584 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/2904 2904 GRIN2B glycine binding | protein binding | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | amyloid-beta binding | zinc ion binding | NMDA glutamate receptor activity | ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | glutamate-gated calcium ion channel activity | glutamate binding http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004972 | http://purl.obolibrary.org/obo/GO_0099507 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0016595 17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_1200603 NANDO:1200603 指定難病 Designated intractable disease レット症候群 Rett syndrome MONDO:0010726 exactMatch http://glycosmos.org/glycogene/4210 4210 MEFV zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247 http://nanbyodata.jp/ontology/NANDO_1200863 NANDO:1200863 指定難病 Designated intractable disease 家族性地中海熱 Familial Mediterranean fever MONDO:0018088 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_1200960 NANDO:1200960 指定難病 Designated intractable disease コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/4512 4512 COX1 heme binding | metal ion binding | protein binding | cytochrome-c oxidase activity http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129 | | 12762840,23260140,26321642,29154948,33961781 | 12140182 http://nanbyodata.jp/ontology/NANDO_1200940 NANDO:1200940 指定難病 Designated intractable disease レーベル遺伝性視神経症 Leber hereditary optic neuropathy MONDO:0010788 exactMatch http://glycosmos.org/glycogene/4540 4540 ND5 NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137 | 15250827,3921850 http://nanbyodata.jp/ontology/NANDO_1200940 NANDO:1200940 指定難病 Designated intractable disease レーベル遺伝性視神経症 Leber hereditary optic neuropathy MONDO:0010788 exactMatch http://glycosmos.org/glycogene/4598 4598 MVK ATP binding | protein binding | mevalonate kinase activity | magnesium ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004496 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0042802 | 21044950,32296183 | 10369261,1377680,14680974,14730012,18302342,9325256 | | 16189514,25502805,26871637,31515488,32296183,9325256 http://nanbyodata.jp/ontology/NANDO_1200866 NANDO:1200866 指定難病 Designated intractable disease 高IgD症候群 Hyper IgD syndrome MONDO:0012481 closeMatch http://glycosmos.org/glycogene/4720 4720 NDUFS2 oxygen sensor activity | 4 iron, 4 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity | ubiquitin protein ligase binding | NAD binding | NADH dehydrogenase (ubiquinone) activity | NADH dehydrogenase activity | quinone binding http://purl.obolibrary.org/obo/GO_0019826 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0048038 30922174 | | 15250827,19463981,19688755,20406883,24089531,24344204,27499296,28514442,32807793,33961781 | | 9647766 | 19725078 | | 22036843,28031252,30922174,9647766,9878551 | 14749350 | http://nanbyodata.jp/ontology/NANDO_1200940 NANDO:1200940 指定難病 Designated intractable disease レーベル遺伝性視神経症 Leber hereditary optic neuropathy MONDO:0010788 exactMatch http://glycosmos.org/glycogene/4893 4893 NRAS GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/4915 4915 NTRK2 insulin-like growth factor receptor activity | fibroblast growth factor receptor activity | transmembrane-ephrin receptor activity | protein binding | brain-derived neurotrophic factor binding | ATP binding | boss receptor activity | vascular endothelial growth factor receptor activity | neurotrophin binding | hepatocyte growth factor receptor activity | GPI-linked ephrin receptor activity | brain-derived neurotrophic factor receptor activity | placental growth factor receptor activity | protease binding | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase collagen receptor activity | epidermal growth factor receptor activity | insulin receptor activity | stem cell factor receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048403 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0043121 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0042803 | | | 17341134,35384245,35840571 | | | | | 11738045 | | | 15494731 | | 26094765 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/23129 23129 PLXND1 semaphorin receptor activity | protein domain specific binding | protein binding http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | 24841563 | 17318185,24139859,24841563,32296183 http://nanbyodata.jp/ontology/NANDO_1200693 NANDO:1200693 指定難病 Designated intractable disease 総動脈幹遺残症 Truncus arteriosus communis MONDO:0018072 exactMatch http://glycosmos.org/glycogene/284119 284119 CAVIN1 rRNA primary transcript binding | RNA binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0042134 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 9582279 | 22658674 | 24013648,32296183 | 17026959,19525939,19726876,24013648,24567387,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200859 NANDO:1200859 指定難病 Designated intractable disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/9632 9632 SEC24C zinc ion binding | SNARE binding | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0005515 18843296 | 18843296 | 10075675,15899885,16189514,17428803,18692470,25416956,30842662,31515488,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/150094 150094 SIK1 histone H3T11 kinase activity | histone H3S28 kinase activity | protein serine kinase activity | protein kinase binding | histone H3T45 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | 3-phosphoinositide-dependent protein kinase activity | ATP binding | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T6 kinase activity | magnesium ion binding | histone H4S1 kinase activity | histone H2AT120 kinase activity | histone deacetylase binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | cAMP response element binding protein binding | ribosomal protein S6 kinase activity | 14-3-3 protein binding | histone H2BS14 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0008140 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004694 | | | 18348280 | | | | | 14976552 | | | | 14976552 | | | | | | | | 18348280 | | | | 16306228,32707033,36931259 | | 14976552,18348280 | | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/150094 150094 SIK1 histone H3T11 kinase activity | histone H3S28 kinase activity | protein serine kinase activity | protein kinase binding | histone H3T45 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | 3-phosphoinositide-dependent protein kinase activity | ATP binding | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T6 kinase activity | magnesium ion binding | histone H4S1 kinase activity | histone H2AT120 kinase activity | histone deacetylase binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | cAMP response element binding protein binding | ribosomal protein S6 kinase activity | 14-3-3 protein binding | histone H2BS14 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0008140 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004694 | | | 18348280 | | | | | 14976552 | | | | 14976552 | | | | | | | | 18348280 | | | | 16306228,32707033,36931259 | | 14976552,18348280 | | http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/9414 9414 TJP2 cadherin binding | protein-macromolecule adaptor activity | cell adhesion molecule binding | protein domain specific binding | guanylate kinase activity | protein tyrosine kinase binding | protein binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0004385 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 25468996 | 23885123 | | 23885123 | 8824195 | 21679692 | 15975580,18823282,22665060,23885123 | http://nanbyodata.jp/ontology/NANDO_1201046 NANDO:1201046 指定難病 Designated intractable disease 進行性家族性肝内胆汁うっ滞症4型 Progressive familial intrahepatic cholestasis type 4 MONDO:0014381 exactMatch http://glycosmos.org/glycogene/221037 221037 JMJD1C dioxygenase activity | protein binding | chromatin DNA binding | metal ion binding | zinc ion binding | nuclear thyroid hormone receptor binding | transcription coregulator activity | histone H3K9 demethylase activity http://purl.obolibrary.org/obo/GO_0051213 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0032454 | 17353003,33640491 | | | | 7776974 | | http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/7353 7353 UFD1 protein binding | cysteine-type deubiquitinase activity | polyubiquitin modification-dependent protein binding | K48-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0036435 11574150,17681147,18775313,20414249,21645854,25959826,26712280,32296183,32814053,33961781,35271311 | 9063746 | | http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/57468 57468 SLC12A5 metal ion binding | potassium:chloride symporter activity | protein kinase binding | ammonium transmembrane transporter activity | chloride transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015379 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008519 | http://purl.obolibrary.org/obo/GO_0015108 | 12106695 | 24393035 | | 26333769 http://nanbyodata.jp/ontology/NANDO_1200595 NANDO:1200595 指定難病 Designated intractable disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/9091 9091 PIGQ protein binding http://purl.obolibrary.org/obo/GO_0005515 10944123,16162815,33961781,9463366 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/94137 94137 RP1L1 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200934 NANDO:1200934 指定難病 Designated intractable disease オカルト黄斑ジストロフィー Occult macular dystrophy MONDO:0013316 exactMatch http://glycosmos.org/glycogene/57492 57492 ARID1B DNA binding | transcription coactivator activity | nucleosome binding | protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0005515 | 11734557 | | 12200431,33961781,35271311,36950384 http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/57582 57582 KCNT1 metal ion binding | intracellular sodium-activated potassium channel activity | outward rectifier potassium channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005228 | http://purl.obolibrary.org/obo/GO_0015271 | 37494189 | http://nanbyodata.jp/ontology/NANDO_1200595 NANDO:1200595 指定難病 Designated intractable disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/103 103 ADAR metal ion binding | double-stranded RNA adenosine deaminase activity | DNA binding | double-stranded RNA binding | protein binding | adenosine deaminase activity | tRNA-specific adenosine deaminase activity | RNA binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003726 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008251 | http://purl.obolibrary.org/obo/GO_0003723 | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200996 NANDO:1200996 指定難病 Designated intractable disease エカルディ・グティエール症候群 Aicardi-Goutières Syndrome MONDO:0018866 exactMatch http://glycosmos.org/glycogene/57697 57697 FANCM ATP hydrolysis activity | RNA helicase activity | four-way junction DNA binding | chromatin binding | nuclease activity | 3'-5' DNA helicase activity | protein binding | four-way junction helicase activity | ATP binding http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003724 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0004518 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | | | 20347429 | | | 17289582,20347429,23932590,25416956,32296183,32769987,33961781 | | http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/113189 113189 CHST14 phosphate ion binding | protein binding | N-acetylgalactosamine 4-O-sulfotransferase activity | sulfotransferase activity http://purl.obolibrary.org/obo/GO_0042301 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001537 | http://purl.obolibrary.org/obo/GO_0008146 11470797 | 35156780 | 11470797 | http://nanbyodata.jp/ontology/NANDO_1201089 NANDO:1201089 指定難病 Designated intractable disease 筋拘縮型エーラス・ダンロス症候群 Musculocontractural Ehlers-Danlos syndrome MONDO:0011142 exactMatch http://glycosmos.org/glycogene/9126 9126 SMC3 cis-regulatory region sequence-specific DNA binding | beta-tubulin binding | double-stranded DNA binding | protein heterodimerization activity | mediator complex binding | ATP hydrolysis activity | dynein complex binding | microtubule motor activity | chromatin binding | protein binding | ATP binding http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | 11590136 | | 11590136 | | | 11590136 | 11590136 | | 11590136,11983169,15656913,15737063,15837422,15855230,16682347,16802858,17105772,17112726,17113138,17349791,17962804,18235444,18832153,19629043,19907496,20818333,22293751,22540012,22628566,22885700,23242214,24299456,24981860,26496610,28514442,29263825,29867216,30021884,33961781,35271311,9506951,9789013 | http://nanbyodata.jp/ontology/NANDO_1200960 NANDO:1200960 指定難病 Designated intractable disease コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/55209 55209 SETD5 histone H3K9 methyltransferase activity | histone H3K36 methyltransferase activity | histone H3K9 monomethyltransferase activity | transcription corepressor activity | histone H3K9me2 methyltransferase activity | protein binding | methylated histone binding | histone H3K36 trimethyltransferase activity http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0140955 | | | | | 25416956,32296183 | | http://nanbyodata.jp/ontology/NANDO_1200960 NANDO:1200960 指定難病 Designated intractable disease コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/55215 55215 FANCI DNA binding | DNA polymerase binding | protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070182 | http://purl.obolibrary.org/obo/GO_0005515 | 19995904 | 17460694,20603015,31240132 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/165 165 AEBP1 calmodulin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | metallocarboxypeptidase activity | collagen binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | zinc ion binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0004181 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005201 | 15654748 | | 29606302 | 15654748 | | 20551380,25037231,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1201085 NANDO:1201085 指定難病 Designated intractable disease 類古典型エーラス・ダンロス症候群 Classical-like Ehlers-Danlos syndrome MONDO:0054813 closeMatch http://glycosmos.org/glycogene/249 249 ALPL alkaline phosphatase activity | ADP phosphatase activity | phosphoamidase activity | pyrophosphatase activity | calcium ion binding | phosphoethanolamine phosphatase activity | pyridoxal phosphatase activity | inorganic diphosphate phosphatase activity | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0004035 | http://purl.obolibrary.org/obo/GO_0043262 | http://purl.obolibrary.org/obo/GO_0050187 | http://purl.obolibrary.org/obo/GO_0016462 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0052732 | http://purl.obolibrary.org/obo/GO_0033883 | http://purl.obolibrary.org/obo/GO_0004427 | http://purl.obolibrary.org/obo/GO_0016887 12162492,33821301 | | | 12162492,19874193 | 11395499 | 2220817 | 12162492,2220817 | | http://nanbyodata.jp/ontology/NANDO_1200656 NANDO:1200656 指定難病 Designated intractable disease 低ホスファターゼ症 Hypophosphatasia MONDO:0018570 exactMatch http://glycosmos.org/glycogene/275 275 AMT protein binding | transaminase activity | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0004047 32296183 | | 16051266 http://nanbyodata.jp/ontology/NANDO_1200984 NANDO:1200984 指定難病 Designated intractable disease 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia MONDO:0011612 exactMatch http://glycosmos.org/glycogene/7290 7290 HIRA nucleosome binding | transcription corepressor activity | RNA polymerase II-specific DNA-binding transcription factor binding | histone binding | protein binding http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0005515 | 9731536 | 9731536 | 9731536 | 11342215,16980972,19029251,24981860,26496610,33961781,9710638 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/338 338 APOB lipase binding | cholesterol transfer activity | low-density lipoprotein particle receptor binding | phospholipid binding | protein binding | receptor ligand activity | heparin binding http://purl.obolibrary.org/obo/GO_0035473 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0008201 9685400 | 15797858 | 15797858,2563166,27477018 | 7126555 | 16203724,21911577,22580899,24447298,25108285,26224785,27138255,27487388,8245722 | 27477018 | 16233946 http://nanbyodata.jp/ontology/NANDO_1201037 NANDO:1201037 指定難病 Designated intractable disease 家族性低βリポタンパク血症1（ホモ接合体） Homozygous familial hypobetalipoproteinemia 1 MONDO:0014252 exactMatch http://glycosmos.org/glycogene/359 359 AQP2 glycerol transmembrane transporter activity | water transmembrane transporter activity | protein binding | water channel activity http://purl.obolibrary.org/obo/GO_0015168 | http://purl.obolibrary.org/obo/GO_0005372 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015250 8584435 | 8584435,9321919 | 25910212,32176498,32296183,36117171 | 11076974,8140421,9829975 http://nanbyodata.jp/ontology/NANDO_1200742 NANDO:1200742 指定難病 Designated intractable disease 先天性腎性尿崩症 Congenital nephrogenic diabetes insipidus MONDO:0016383 exactMatch http://glycosmos.org/glycogene/84823 84823 LMNB2 structural constituent of cytoskeleton | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 | 24981860,26524528,29568061,30021884,32296183,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_1200862 NANDO:1200862 指定難病 Designated intractable disease 後天性部分性脂肪萎縮症 Acquired partial lipodystrophy MONDO:0012104 exactMatch http://glycosmos.org/glycogene/9051 9051 PSTPIP1 actin filament binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | 11971877,16318909,17964261,18480402,19807924,21516116,24407287,25040622,25416956,25910212,26871637,32296183,35152348,9422760 | 17964261,35152348 http://nanbyodata.jp/ontology/NANDO_1200868 NANDO:1200868 指定難病 Designated intractable disease 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 exactMatch http://glycosmos.org/glycogene/672 672 BRCA1 RNA binding | histone H2AK127 ubiquitin ligase activity | DNA binding | zinc ion binding | damaged DNA binding | RNA polymerase binding | DNA-binding transcription activator activity | enzyme binding | ubiquitin-protein transferase activity | protein binding | ubiquitin protein ligase binding | histone H2AK129 ubiquitin ligase activity | p53 binding | ubiquitin modification-dependent histone binding | transcription coactivator activity | tubulin binding | transcription cis-regulatory region binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0140863 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0140864 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061649 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042802 12419249 | 35351360 | 9662397 | | | 9662397 | | 15965487 | 12890688,17349954,19117993,20351172 | 10477523,10518542,10855792,11090615,11301010,11739404,11751867,11836499,11877377,12242698,12354784,12419185,12607005,14550570,14576433,14654789,15107825,15125843,15133502,15265711,15674350,15965487,16101277,16326698,16452482,17334399,17511879,17525332,17525340,17581638,17643121,17873885,18001824,18001825,18285836,18716619,19117993,19261748,19369211,20016594,20016603,20160719,20351172,21240188,21407215,21673012,21951318,21988832,22110403,22193777,22792074,22884692,23624935,23680151,24981860,26807646,26833090,28319063,29656893,29899443,31270457,31527615,32814053,33961781,34552057,34591612,8944023,9497340,9528852,9662397,9774970,9811458 | 17873885 | 35351360 | 15571721 | 35351360 | 20820192,9662397 | 12214252 | 20820192 | 29656893,34591612,8944023 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/675 675 BRCA2 histone acetyltransferase activity | protease binding | identical protein binding | single-stranded DNA binding | protein binding | gamma-tubulin binding | histone H4 acetyltransferase activity | histone H3 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043015 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0010484 9824164 | 15314155 | 21601571,25282148 | 20729832 | 10373512,10551859,11597317,12242698,12442171,15115758,15800615,15930293,15967112,16099937,16205630,16275750,17420451,17515903,17515904,17541404,18212739,18264088,19303847,19369211,19423707,19609323,19628690,20421506,20729832,20729859,21399666,21601571,21719596,22116401,22193777,22293751,24013206,24141787,24485656,24981860,25282148,25585578,26833090,28319063,30410870,31242413,33961781,34591612,39009827,9560268,9774970 | 17286961 | 9619837 | 9619837 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/7401 7401 CLRN1 protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_1200944 NANDO:1200944 指定難病 Designated intractable disease アッシャー症候群3型 Usher syndrome Type III MONDO:0016485 exactMatch http://glycosmos.org/glycogene/7403 7403 KDM6A histone H3K27me2/H3K27me3 demethylase activity | chromatin DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | metal ion binding | histone demethylase activity | protein binding http://purl.obolibrary.org/obo/GO_0071558 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0032452 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 17178841,24981860,27705803,32296183,33961781,34667079 http://nanbyodata.jp/ontology/NANDO_1200672 NANDO:1200672 指定難病 Designated intractable disease 歌舞伎症候群 Kabuki syndrome MONDO:0016512 exactMatch http://glycosmos.org/glycogene/7466 7466 WFS1 calmodulin binding | calcium-dependent protein binding | ubiquitin protein ligase binding | protein binding | DNA-binding transcription factor binding | proteasome binding | protein carrier chaperone | ATPase binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0070628 | http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0051117 | | 20160352 | 17947299,21044950,23035048,25274773,32296183,32814053 | | | 20160352 | 17947299 http://nanbyodata.jp/ontology/NANDO_1200757 NANDO:1200757 指定難病 Designated intractable disease ウォルフラム症候群 Wolfram syndrome MONDO:0018105 exactMatch http://glycosmos.org/glycogene/7508 7508 XPC damaged DNA binding | transcription coactivator activity | RNA polymerase II-specific DNA-binding transcription factor binding | heteroduplex DNA loop binding | DNA damage sensor activity | single-stranded DNA binding | protein binding | bubble DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000404 | http://purl.obolibrary.org/obo/GO_0140612 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0044877 12509299 | 29973595,31527837 | | 19941824 | 10873465,19941824,33937266 | 12509299 | 10488153,10734143,17693435,18024891,21962512,22039351,26278177,26638075,28514442,29973595,31527837,33961781,34591612,34591642,35271311 | 19941824 | 11259578 http://nanbyodata.jp/ontology/NANDO_1200608 NANDO:1200608 指定難病 Designated intractable disease 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 exactMatch http://glycosmos.org/glycogene/867 867 CBL ephrin receptor binding | ubiquitin-protein transferase activity | ubiquitin protein ligase activity | zinc ion binding | cadherin binding | protein binding | SH3 domain binding | receptor tyrosine kinase binding | phosphotyrosine residue binding | calcium ion binding | phosphatidylinositol 3-kinase regulatory subunit binding http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0036312 18034775 | 15465819 | | | 25468996 | 10068674,10092522,10679202,11157475,11697890,11891219,12177062,12815057,14596919,15090612,15094368,15282549,15657067,15708858,15737992,15962011,16407834,16467851,16636290,16893902,16914641,16982329,17020880,17094785,17141222,17372230,17395426,17974561,18273061,18654987,19268472,19380743,20308550,20562913,20618440,20711168,20936779,21163258,21570973,21706016,22266821,23799367,24255178,25036637,25241761,25814554,27059931,28514442,29237719,30118682,31980649,32814053,33961781,35271311,36931259,5668240,7657591,8524328,8626543,8663231,9092538,9160881,9447983,9890970 | 9447983 | | | | http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/26580 26580 BSCL2 phospholipid binding | protein binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 30293840 | 16189514,25416956,30901948,30970241,31515488,31708432,32814053 http://nanbyodata.jp/ontology/NANDO_1200859 NANDO:1200859 指定難病 Designated intractable disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200953 NANDO:1200953 指定難病 Designated intractable disease 進行性ミオクローヌスてんかん Progressive myoclonus epilepsy MONDO:0020074 exactMatch http://glycosmos.org/glycogene/146059 146059 CDAN1 protein binding http://purl.obolibrary.org/obo/GO_0005515 22407294 http://nanbyodata.jp/ontology/NANDO_1200886 NANDO:1200886 指定難病 Designated intractable disease 先天性赤血球形成異常性貧血 Type I Congenital dyserythropoietic anemia type I MONDO:0020337 exactMatch http://glycosmos.org/glycogene/55997 55997 CFC1 activin receptor binding | nodal binding http://purl.obolibrary.org/obo/GO_0070697 | http://purl.obolibrary.org/obo/GO_0038100 | http://nanbyodata.jp/ontology/NANDO_1200701 NANDO:1200701 指定難病 Designated intractable disease 完全大血管転位症II型 Complete transposition of the great arteries (Group2) MONDO:0016303 closeMatch http://glycosmos.org/glycogene/79932 79932 KIAA0319L protein binding http://purl.obolibrary.org/obo/GO_0005515 20697954,25416956 http://nanbyodata.jp/ontology/NANDO_1201011 NANDO:1201011 指定難病 Designated intractable disease 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 exactMatch http://glycosmos.org/glycogene/5244 5244 ABCB4 phospholipid transporter activity | ABC-type transporter activity | ceramide floppase activity | ATP hydrolysis activity | phosphatidylcholine floppase activity | ATP binding | ATPase-coupled transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0099038 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0090554 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005515 | | 8898203 | | 17523162,24045840,24806754,31873305,8898203 | | 17523162,8898203 | 19674157 http://nanbyodata.jp/ontology/NANDO_1201045 NANDO:1201045 指定難病 Designated intractable disease 進行性家族性肝内胆汁うっ滞症3型 Progressive familial intrahepatic cholestasis type 3 MONDO:0011214 exactMatch http://glycosmos.org/glycogene/3030 3030 HADHA NAD+ binding | protein-containing complex binding | long-chain-3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-acetyltransferase activity | 3-hydroxyacyl-CoA dehydratase activity | 3-hydroxyacyl-CoA dehydrogenase activity | fatty-acyl-CoA binding | protein binding http://purl.obolibrary.org/obo/GO_0070403 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0016509 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 8135828 | | 8135828 | | 20562859,28514442,29915090,30850536,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_1200974 NANDO:1200974 指定難病 Designated intractable disease 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 exactMatch http://glycosmos.org/glycogene/3032 3032 HADHB lncRNA binding | acetyl-CoA C-acyltransferase activity | acetyl-CoA C-acetyltransferase activity | RNA binding | 3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-myristoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0003988 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0050633 | http://purl.obolibrary.org/obo/GO_0005515 | 8135828 | | 22658674 | 1550553 | 1550553 | | 20562859,21527675,28514442,29915090,30850536,32243843,33961781 http://nanbyodata.jp/ontology/NANDO_1200974 NANDO:1200974 指定難病 Designated intractable disease 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 exactMatch http://glycosmos.org/glycogene/3075 3075 CFH identical protein binding | complement component C3b binding | protein binding | heparan sulfate proteoglycan binding | heparin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0008201 19505476,19850925,26468283 | | 16612335,17244159,17293598,17339482,17399790,18627465,18786923,19050261,19084272,19225461,19632990,19680263,19850925,20042240,21317894,21930971,21979047,22786770,23332154,24835392,26468283,26538390,28258151,28533443,28671664,29374201 | 22471560 | 22471560 http://nanbyodata.jp/ontology/NANDO_1200726 NANDO:1200726 指定難病 Designated intractable disease 一次性膜性増殖性糸球体腎炎I型 Primary membranoproliferative glomerulonephritis type I MONDO:0014005 exactMatch http://glycosmos.org/glycogene/3075 3075 CFH identical protein binding | complement component C3b binding | protein binding | heparan sulfate proteoglycan binding | heparin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0008201 19505476,19850925,26468283 | | 16612335,17244159,17293598,17339482,17399790,18627465,18786923,19050261,19084272,19225461,19632990,19680263,19850925,20042240,21317894,21930971,21979047,22786770,23332154,24835392,26468283,26538390,28258151,28533443,28671664,29374201 | 22471560 | 22471560 http://nanbyodata.jp/ontology/NANDO_1200739 NANDO:1200739 指定難病 Designated intractable disease 一次性膜性増殖性糸球体腎炎II型 Primary membranoproliferative glomerulonephritis type II MONDO:0019736 exactMatch http://glycosmos.org/glycogene/3078 3078 CFHR1 complement component C3b binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | 19528535,23487775,23728178,31273197 | 19528535,22786770,23487775,23728178,27814381,28533443,31273197,33961781 http://nanbyodata.jp/ontology/NANDO_1200739 NANDO:1200739 指定難病 Designated intractable disease 一次性膜性増殖性糸球体腎炎II型 Primary membranoproliferative glomerulonephritis type II MONDO:0019736 exactMatch http://glycosmos.org/glycogene/3113 3113 HLA-DPA1 peptide antigen binding | MHC class II receptor activity | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | 2461352 | | 28514442,33961781,34819669 http://nanbyodata.jp/ontology/NANDO_1201009 NANDO:1201009 指定難病 Designated intractable disease 全身型多発血管炎性肉芽腫症 Systemic granulomatosis with polyangiitis MONDO:0012105 closeMatch http://glycosmos.org/glycogene/3115 3115 HLA-DPB1 peptide antigen binding | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | | 32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1201009 NANDO:1201009 指定難病 Designated intractable disease 全身型多発血管炎性肉芽腫症 Systemic granulomatosis with polyangiitis MONDO:0012105 closeMatch http://glycosmos.org/glycogene/3119 3119 HLA-DQB1 peptide antigen binding | MHC class II protein complex binding | protein binding | MHC class II receptor activity http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0032395 20356827 | | 14769912,17629515,29997244,33961781 | 2998758 http://nanbyodata.jp/ontology/NANDO_1200632 NANDO:1200632 指定難病 Designated intractable disease 類天疱瘡 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:0019082 closeMatch http://glycosmos.org/glycogene/3119 3119 HLA-DQB1 peptide antigen binding | MHC class II protein complex binding | protein binding | MHC class II receptor activity http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0032395 20356827 | | 14769912,17629515,29997244,33961781 | 2998758 http://nanbyodata.jp/ontology/NANDO_1200633 NANDO:1200633 指定難病 Designated intractable disease 水疱性類天疱瘡 Bullous pemphigoid MONDO:0019082 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1200632 NANDO:1200632 指定難病 Designated intractable disease 類天疱瘡 Pemphigoid (including Epidermolysis bullosa acquisita) MONDO:0019082 closeMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1200633 NANDO:1200633 指定難病 Designated intractable disease 水疱性類天疱瘡 Bullous pemphigoid MONDO:0019082 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1201010 NANDO:1201010 指定難病 Designated intractable disease びまん皮膚硬化型全身性強皮症 Diffuse cutaneous systemic sclerosis MONDO:0016356 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_1201011 NANDO:1201011 指定難病 Designated intractable disease 限局皮膚硬化型全身性強皮症 Limited cutaneous systemic sclerosis MONDO:0016358 exactMatch http://glycosmos.org/glycogene/5095 5095 PCCA enzyme binding | metal ion binding | biotin binding | protein binding | ATP binding | propionyl-CoA carboxylase activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009374 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004658 19157941 | | 3460076 | 20725044,32296183,33961781 | | 6765947,8434582 http://nanbyodata.jp/ontology/NANDO_1200792 NANDO:1200792 指定難病 Designated intractable disease プロピオン酸血症 Propionic acidemia MONDO:0011628 exactMatch http://glycosmos.org/glycogene/5096 5096 PCCB protein binding | propionyl-CoA carboxylase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004658 | http://purl.obolibrary.org/obo/GO_0005524 20725044,32296183,33961781 | 6765947 | http://nanbyodata.jp/ontology/NANDO_1200792 NANDO:1200792 指定難病 Designated intractable disease プロピオン酸血症 Propionic acidemia MONDO:0011628 exactMatch http://glycosmos.org/glycogene/5251 5251 PHEX protein binding | zinc ion binding | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 15664000 | 9070861 | http://nanbyodata.jp/ontology/NANDO_1200779 NANDO:1200779 指定難病 Designated intractable disease ビタミンD抵抗性くる病 Vitamin D-resistant rickets MONDO:0010619 closeMatch http://glycosmos.org/glycogene/5265 5265 SERPINA1 protease binding | identical protein binding | protein binding | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004867 15853774 | 11057674,18923394,21909074,22405009 | 11057674,12860985,12878203,15271889,15845869,16192646,16321984,17380188,20477988,22115549,23826168,31142615,31358993,32814053,33741941 | 12878203,15795238 http://nanbyodata.jp/ontology/NANDO_1200755 NANDO:1200755 指定難病 Designated intractable disease α1-アンチトリプシン欠損症 Alpha-1-antitrypsin deficiency MONDO:0013282 exactMatch http://glycosmos.org/glycogene/5277 5277 PIGA UDP-glycosyltransferase activity | protein binding | phosphatidylinositol N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0008194 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017176 | 10944123,16162815,33961781,8900170,9463366 | 16162815 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/5351 5351 PLOD1 procollagen-lysine 5-dioxygenase activity | protein binding | L-ascorbic acid binding | iron ion binding | procollagen glucosyltransferase activity http://purl.obolibrary.org/obo/GO_0008475 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031418 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0033823 10934207,8621606,9582318,9724729 | 26496610,28514442,33961781 | | | 10934207 http://nanbyodata.jp/ontology/NANDO_1200649 NANDO:1200649 指定難病 Designated intractable disease 後側彎型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 closeMatch http://glycosmos.org/glycogene/5468 5468 PPARG prostaglandin receptor activity | peptide binding | zinc ion binding | alpha-actinin binding | enzyme binding | STAT family protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | double-stranded DNA binding | nucleic acid binding | arachidonic acid binding | WW domain binding | DNA-binding transcription factor binding | nuclear receptor activity | nuclear retinoid X receptor binding | DNA binding | DNA-binding transcription factor activity | sequence-specific DNA binding | LBD domain binding | R-SMAD binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding domain binding | identical protein binding | chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | transcription coregulator binding | E-box binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0004955 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0050544 | http://purl.obolibrary.org/obo/GO_0050699 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0050693 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0050692 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0000976 9568715 | 19043829 | 19043829 | 22351778 | 12039952 | 28467929 | | 12040021,12522104,14701856,15722453,16239304,17500595,19043829,19047629,19846556,20195357,20211142,20660480,21478865,21775429,22078880,22351778,25609649,32296183,32814053,35140242 | 19043829 | 19043829 | 9568715 | 22292086 | 10622252 | 10622252,12955147,16239304,18293083 | 19043829,9568715 | 18382765 | 9568715 | 9568716 | 19043829 | 31023188 | 25704091 | 19043829 | 17937915,25609649 | | 25704091 | | 14701856 | | 18293083 http://nanbyodata.jp/ontology/NANDO_1200859 NANDO:1200859 指定難病 Designated intractable disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/5573 5573 PRKAR1A cAMP binding | protein domain specific binding | protein binding | cAMP-dependent protein kinase inhibitor activity | ubiquitin protein ligase binding | protein kinase A catalytic subunit binding | cAMP-dependent protein kinase regulator activity http://purl.obolibrary.org/obo/GO_0030552 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0008603 | 25097019 | 11414803,15655353,16189514,16387847,16491121,17911601,19060904,20195357,20562859,21900206,23455922,24605759,24700472,24855271,25477193,28514442,31515488,31980649,32296183,32707033,33058759,33961781,35271311 | 21812984 | 21423175 | 17911601,21812984 | 21812984 http://nanbyodata.jp/ontology/NANDO_1200756 NANDO:1200756 指定難病 Designated intractable disease カーニー複合 Carney complex MONDO:0015285 exactMatch http://glycosmos.org/glycogene/5624 5624 PROC calcium ion binding | protein binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | 15248212,32296183 | 15005336,25748729 http://nanbyodata.jp/ontology/NANDO_1201080 NANDO:1201080 指定難病 Designated intractable disease 先天性プロテインC欠乏症 Protein C deficiency MONDO:0019145 exactMatch http://glycosmos.org/glycogene/5657 5657 PRTN3 signaling receptor binding | enzyme binding | serine-type peptidase activity | serine-type endopeptidase activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 17244676 | 17712045 | 2679910 | 11389039,22266279,23202369,28240246 | 16488976,28240246,30692621 http://nanbyodata.jp/ontology/NANDO_1201009 NANDO:1201009 指定難病 Designated intractable disease 全身型多発血管炎性肉芽腫症 Systemic granulomatosis with polyangiitis MONDO:0012105 closeMatch http://glycosmos.org/glycogene/5781 5781 PTPN11 peptide hormone receptor binding | cell adhesion molecule binding | protein tyrosine phosphatase activity | cadherin binding | signaling receptor complex adaptor activity | protein kinase binding | receptor tyrosine kinase binding | protein tyrosine kinase binding | non-membrane spanning protein tyrosine phosphatase activity | protein binding | histone H2AXY142 phosphatase activity | phosphotyrosine residue binding | molecular adaptor activity | protein tyrosine phosphatase activity, metal-dependent | insulin receptor binding | phosphoprotein phosphatase activity http://purl.obolibrary.org/obo/GO_0051428 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0004721 | 15985432 | 10206955,15133037,17562706,22759635,23029125,26617336,26742426,28074573 | 15985432 | 7493946 | | | 15985432 | 10655584,16481357 | 10206955,10540326,10655584,10660596,10681522,10704309,10887109,11323411,11453982,12051764,12577067,12614164,12855672,14665621,14701753,15133037,15170389,15240681,15574420,15985432,16253990,16254138,16273093,16337946,16339535,16354697,16963136,17562706,17936057,17947393,18579758,18604210,19172738,19275884,19380743,19509291,19843936,20308328,20473329,20933011,21516116,21706016,23112346,23397142,24642916,24728074,24935154,25416956,26742426,26755705,27229929,28046066,28065597,29997244,31515488,31585087,31980649,32296183,33961781,34310951,35384245,7493946,7504175,7513703,7523381,7530043,7642582,7688466,8119896,8183548,8538796,8648092,8810330,8895367,9312087,9535915,9593725,9632781,9658397,9774457,9792637 | | 11986327 | 26358190 | | 7493946 | 15133037 http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/5889 5889 RAD51C DNA binding | crossover junction DNA endonuclease activity | ATP-dependent DNA damage sensor activity | four-way junction DNA binding | protein binding | ATP binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008821 | http://purl.obolibrary.org/obo/GO_0140664 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 9469824 | 14716019 | | 20207730 | 11751635,11842113,16395335,21965664,24005329,24141787,26496610,28514442,28864920,32296183,33961781,34591612,35849344,9469824 | http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/5894 5894 RAF1 protein serine/threonine kinase activity | histone H3T45 kinase activity | histone H3S57 kinase activity | histone H3S10 kinase activity | zinc ion binding | protein binding | protein serine kinase activity | protein kinase activity | histone H2AXS139 kinase activity | histone H2AS1 kinase activity | identical protein binding | histone H2BS14 kinase activity | histone H4S1 kinase activity | small GTPase binding | DNA-dependent protein kinase activity | histone H2BS36 kinase activity | enzyme binding | AMP-activated protein kinase activity | histone H3T11 kinase activity | histone H3S28 kinase activity | ATP binding | 3-phosphoinositide-dependent protein kinase activity | histone H3T6 kinase activity | metal ion binding | histone H2AS121 kinase activity | ribosomal protein S6 kinase activity | MAP kinase kinase kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T3 kinase activity | histone H2AT120 kinase activity | Rho-dependent protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004709 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072518 19667065 | | | | | 10433554,10523642,11697890,11909642,12620389,14688280,15778465,15935327,16239230,16306228,16330544,16405965,16837009,17097642,17229891,17724343,17979178,18064632,18073111,18273062,18641128,19049963,19063885,19164755,19197339,19222999,19595761,19696784,20052757,20080631,20130576,20133694,20141835,20178605,20179103,20179161,20679480,20802526,21139044,21457714,21478863,21536655,21831839,21988832,22169110,22510884,22886302,22886303,22939624,23327923,23680146,23934108,24008843,24189400,24255178,24330068,24736947,24746704,24929361,25036637,25137548,25155755,25684575,25852190,26466569,26496610,28514442,30194290,31024343,31980649,32296183,32707033,32814053,33961781,34591612,34591642,35044719,35271311,36931259,37045861,39251607,7644510,7760835,7791872,7882972,7935795,7939632,8085158,8332187,8601312,8670882,8756332,9144171,9624170 | | 9446616 | | | 17979178,20130576,22169110,22510884 | | | 12194967 | | | 23509299 | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/5961 5961 PRPH2 protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | 32814053 http://nanbyodata.jp/ontology/NANDO_1200933 NANDO:1200933 指定難病 Designated intractable disease Stargardt病 Stargardt disease MONDO:0019353 exactMatch http://glycosmos.org/glycogene/473 473 RERE chromatin binding | metal ion binding | transcription coactivator activity | transcription corepressor activity | protein binding | sequence-specific DNA binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 16713569,18451879,19131340,32296183 | | http://nanbyodata.jp/ontology/NANDO_1200682 NANDO:1200682 指定難病 Designated intractable disease 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200903 NANDO:1200903 指定難病 Designated intractable disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/6138 6138 RPL15 cadherin binding | protein binding | structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 25468996 | 21612406,24965446,25416956,32296183,32814053 | 12962325,23636399,32669547 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6141 6141 RPL18 structural constituent of ribosome | RNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 12962325,23636399,32669547 | | 30021884,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6154 6154 RPL26 structural constituent of ribosome | mRNA 5'-UTR binding | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 12962325,18697920,23636399,32669547 | 16213212 | 16213212,24965446,26100019 | 22681889 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6165 6165 RPL35A RNA binding | tRNA binding | protein binding | structural constituent of ribosome http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003735 22658674,22681889 | | 24965446,32814053 | 12962325,18697920,23636399,32669547 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6218 6218 RPS17 structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 15883184,17647292,18412286,18697920,23636399 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6223 6223 RPS19 fibroblast growth factor binding | identical protein binding | protein binding | protein kinase binding | structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 11716516 | 11226885 | 16266891,24965446,30021884,32296183,32814053,33961781,35271311 | 16266891 | 15883184,18697920,23636399 | 22681889 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6229 6229 RPS24 RNA binding | structural constituent of ribosome | translation initiation factor binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0031369 22658674,22681889 | 15883184,18412286,18697920,23636399 | http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6234 6234 RPS28 structural constituent of ribosome | RNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 15883184,18697920,23636399 | 22658674,22681889 | 25416956,32296183 http://nanbyodata.jp/ontology/NANDO_1200890 NANDO:1200890 指定難病 Designated intractable disease ダイアモンド・ブラックファン貧血 Diamond-Blackfan anemia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6197 6197 RPS6KA3 histone H2BS36 kinase activity | histone H2AXS139 kinase activity | histone H3T45 kinase activity | histone H3S10 kinase activity | magnesium ion binding | histone H4S1 kinase activity | protein serine/threonine kinase activity | histone H3T3 kinase activity | histone H3T6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | AMP-activated protein kinase activity | ribosomal protein S6 kinase activity | protein kinase activity | histone H2BS14 kinase activity | ATP binding | histone H2AS1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | histone H3T11 kinase activity | cysteine-type endopeptidase inhibitor activity involved in apoptotic process | protein serine kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S28 kinase activity | histone H2AS121 kinase activity | protein kinase binding http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0043027 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0019901 | | | | | | | | | | | | 10094392,21988832,22939624,23602568,25241761,25513777,28514442,31980649,32707033,32814053,33961781,34591642,35271311 | | | 10436156 | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200660 NANDO:1200660 指定難病 Designated intractable disease コフィン・ローリー症候群 Coffin-Lowry syndrome MONDO:0010561 exactMatch http://glycosmos.org/glycogene/6239 6239 RREB1 zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | metal ion binding | DNA-binding transcription activator activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001228 | 20133935 | 8816445 | | 8816445 http://nanbyodata.jp/ontology/NANDO_1200688 NANDO:1200688 指定難病 Designated intractable disease 22q11.2欠失症候群 22q11.2 deletion syndrome MONDO:0018923 exactMatch http://glycosmos.org/glycogene/6323 6323 SCN1A voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005248 22150645 | 10742094,14672992 http://nanbyodata.jp/ontology/NANDO_1200591 NANDO:1200591 指定難病 Designated intractable disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/6323 6323 SCN1A voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005248 22150645 | 10742094,14672992 http://nanbyodata.jp/ontology/NANDO_1200595 NANDO:1200595 指定難病 Designated intractable disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/6324 6324 SCN1B sodium channel inhibitor activity | sodium channel regulator activity | protein binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0019871 | http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 17884088 | 14622265,18464934,19710327,19808477,36696443,8125980 | 26900580,30190309 | http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6326 6326 SCN2A calmodulin binding | protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 25232683 | 36950384 | 1325650,17021166,28256214,29844171 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6326 6326 SCN2A calmodulin binding | protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 25232683 | 36950384 | 1325650,17021166,28256214,29844171 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6487 6487 ST3GAL3 sialyltransferase activity | beta-galactoside (CMP) alpha-2,3-sialyltransferase activity | protein binding | N-acetyllactosaminide alpha-2,3-sialyltransferase activity http://purl.obolibrary.org/obo/GO_0008373 | http://purl.obolibrary.org/obo/GO_0003836 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008118 | | 32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6495 6495 SIX1 sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding | DNA-binding transcription factor activity | transcription coactivator binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 28473536 | | 19497856 | 15141091 | | 19497856 | | 16670092 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 15141091 | 15141091 http://nanbyodata.jp/ontology/NANDO_1200675 NANDO:1200675 指定難病 Designated intractable disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0018878 closeMatch http://glycosmos.org/glycogene/6497 6497 SKI SMAD binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | zinc ion binding | ubiquitin protein ligase binding | identical protein binding | protein domain specific binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA-binding transcription factor binding | histone deacetylase inhibitor activity http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0046811 15107821,17469184 | | 17469184 | 12419246 | 17510063 | 8514802 | 11441023 | 12874272 | | 10049357,12419246,12435627,12646588,14525983,15231748,18729074,19008232,19032343,19049980,22334647,22442258,23610558,25609649,26977879,33961781,34819669,8514802,9569025 | 12435627 | http://nanbyodata.jp/ontology/NANDO_1200682 NANDO:1200682 指定難病 Designated intractable disease 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 exactMatch http://glycosmos.org/glycogene/6578 6578 SLCO2A1 prostaglandin transmembrane transporter activity | lipid transporter activity | sodium-independent organic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015132 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0015347 | 8787677 | http://nanbyodata.jp/ontology/NANDO_1200642 NANDO:1200642 指定難病 Designated intractable disease 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 exactMatch http://glycosmos.org/glycogene/6513 6513 SLC2A1 protein binding | D-glucose transmembrane transporter activity | identical protein binding | dehydroascorbic acid transmembrane transporter activity | kinase binding | xenobiotic transmembrane transporter activity | fucose transmembrane transporter activity | glucose transmembrane transporter activity | long-chain fatty acid transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0015150 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005324 18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690 http://nanbyodata.jp/ontology/NANDO_1200799 NANDO:1200799 指定難病 Designated intractable disease グルコーストランスポーター1欠損症 Glucose transporter 1 deficiency MONDO:0011724 closeMatch http://glycosmos.org/glycogene/6597 6597 SMARCA4 p53 binding | histone binding | RNA binding | protein binding | RNA polymerase I core promoter sequence-specific DNA binding | helicase activity | nucleosomal DNA binding | chromatin binding | transcription coactivator activity | ATP-dependent chromatin remodeler activity | transcription coregulator binding | ATP-dependent activity, acting on DNA | Tat protein binding | ATP binding | DNA polymerase binding | nucleosome array spacer activity | transcription corepressor activity | nuclear androgen receptor binding | hydrolase activity | DNA binding http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0070182 | http://purl.obolibrary.org/obo/GO_0140750 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0003677 11950834 | | | 10078207,11726552,11780067,11988099,12065415,12192000,12200431,12368262,12917342,15985610,16051670,16687403,17984088,18303029,19149898,19571879,20224553,20418909,22140357,23022380,23540691,24434208,24550003,24981860,28420882,28514442,28649782,30108113,31759698,32459350,33961781,34591612,35271311,36950384 | 22368283 | | 16217013 | | 15774904,16687403,8804307 | 34910916 | 14701856,22368283 | 8232556 | 16687403 | | 19571879 | | 18487222,20418909 | 18487222 | | http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6598 6598 SMARCB1 DNA binding | identical protein binding | protein binding | transcription coactivator activity | RNA polymerase I core promoter sequence-specific DNA binding | p53 binding | nucleosomal DNA binding | Tat protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0030957 26073604 | 27229929,30108113 | 10078207,10365963,12368262,14963118,15985610,16601680,16687403,20111005,21900206,22368283,23540691,24874740,24981860,27229929,28514442,30108113,31759698,32296183,32814053,33961781,34591612,35271311 | 16687403 | 22368283 | 11950834 | 16217013 | 16687403 http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6601 6601 SMARCC2 histone binding | nucleosomal DNA binding | protein binding | transcription coactivator activity http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | 16217013 | 12192000,12917342,20130577,21044950,21653829,28514442,28533407,32296183,32814053,33961781,34591612,35271311,36950384 | 8804307 http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6602 6602 SMARCD1 molecular adaptor activity | signaling receptor binding | transcription coactivator activity | protein binding | transcription coregulator activity | chromatin binding http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0003682 12917342 | | 8804307 | 12917342,15985610,16189514,18303029,21516116,21988832,24421395,24434208,24981860,25416956,31515488,32296183,32459350,32814053,33961781,34591612,35271311 | | http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6605 6605 SMARCE1 nuclear receptor binding | chromatin binding | nucleosomal DNA binding | transcription coactivator activity | DNA binding | N-acetyltransferase activity | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 17363140 | 9435219 | 16217013 | 8804307 | | 12192000 | 12192000,12917342,15985610,16051670,16919237,17363140,21516116,24981860,25416956,28514442,31515488,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/8289 8289 ARID1A nuclear receptor binding | nucleosome binding | protein binding | DNA binding | transcription coactivator activity http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003713 17363140 | | 11780067,11988099,12200431,12368262,15985610,17363140,19486893,23540691,23698369,30021884,31759698,34591612,35271311,36931659 | 10757798,23129809 | 12200431,8804307 http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/8243 8243 SMC1A chromatin binding | ATP hydrolysis activity | protein binding | protein heterodimerization activity | mediator complex binding | DNA binding | ATP binding | RNA binding http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003723 11076961 | | 11076961,11590136,11877377,12930902,15837422,16438930,17112726,17113138,17349791,18832153,19629043,20818333,22628566,22885700,22977523,23242214,24136289,24981860,26496610,28514442,29263825,29867216,30021884,32296183,33961781,35271311,9789013 | 11590136 | | | | 22681889 http://nanbyodata.jp/ontology/NANDO_1200960 NANDO:1200960 指定難病 Designated intractable disease コルネリア・デランゲ症候群 Cornelia de lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/6654 6654 SOS1 protein heterodimerization activity | SH3 domain binding | epidermal growth factor receptor binding | protein kinase binding | GTPase activator activity | molecular condensate scaffold activity | guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0005154 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 9790532 | 27056844 | 1371879,16483568,7731718 | 10026169,10206341,12029088,12482578,12577067,12628188,14679214,15507210,16520382,17084389,17141806,17474147,17515907,18454158,19141281,19323566,19380743,19464300,20133692,20473329,21706016,21988832,23397142,25241761,26005835,28514442,30631038,31980649,32296183,33961781,34591642,7527391,7629138,7773779,9020117,9447984,9544989,9569023,9690470 http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6655 6655 SOS2 protein heterodimerization activity | guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | | 14679214,17474147,19380743,20936779,21706016,21988832,28514442,31980649,33961781,7629138 http://nanbyodata.jp/ontology/NANDO_1200680 NANDO:1200680 指定難病 Designated intractable disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6709 6709 SPTAN1 cadherin binding | calcium ion binding | actin filament binding | structural constituent of cytoskeleton | protein binding | calmodulin binding | actin binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0003779 25468996 | | | 2307671 | 12571280,12820899,15328537,16336193,17043677,19102630,20706999,29961565,30021884,31413325,35271311 | | 2307671 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/64324 64324 NSD1 histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear retinoic acid receptor binding | nuclear retinoid X receptor binding | histone H3K36 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K36 dimethyltransferase activity | nuclear thyroid hormone receptor binding | histone H3 methyltransferase activity | protein binding | transcription coregulator activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0042799 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496 http://nanbyodata.jp/ontology/NANDO_1200679 NANDO:1200679 指定難病 Designated intractable disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/8573 8573 CASK histone H2AXS139 kinase activity | histone H3S28 kinase activity | Rho-dependent protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T45 kinase activity | histone H3S10 kinase activity | calmodulin binding | AMP-activated protein kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS36 kinase activity | ATP binding | histone H2AT120 kinase activity | histone H3T6 kinase activity | histone H2AS1 kinase activity | protein binding | histone H2AS121 kinase activity | guanylate kinase activity | protein serine kinase activity | ribosomal protein S6 kinase activity | histone H4S1 kinase activity | neurexin family protein binding | protein serine/threonine kinase activity | signaling receptor binding | histone H3T11 kinase activity | histone H2BS14 kinase activity | DNA-dependent protein kinase activity | histone H3S57 kinase activity | histone H3T3 kinase activity http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004385 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0042043 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0072354 | | | | | | | | | | | | | | 11377421,15694377,16688213,18423203,21763699,22153505,24366813,25416956,25852190,29892012,32296183,32707033,33961781,35914814,36012204,39009827,9660868 | | 9660868 | | | | | 18423203 | | | | | | http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/196528 196528 ARID2 zinc ion binding | metal ion binding | protein binding | DNA binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | | 15985610,22140357,24981860,30108113,31759698,33961781,34591612,35271311 | http://nanbyodata.jp/ontology/NANDO_1200670 NANDO:1200670 指定難病 Designated intractable disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/170302 170302 ARX RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536 http://nanbyodata.jp/ontology/NANDO_1200592 NANDO:1200592 指定難病 Designated intractable disease ウエスト症候群 West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/170302 170302 ARX RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/29072 29072 SETD2 metal ion binding | protein-lysine N-methyltransferase activity | alpha-tubulin binding | protein binding | histone H3 methyltransferase activity | histone H3K36 trimethyltransferase activity | histone H3K36 methyltransferase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016279 | http://purl.obolibrary.org/obo/GO_0043014 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0140955 | http://purl.obolibrary.org/obo/GO_0046975 | 28753426 | 27518565 | 17500595,19141475,21988832,28753426,36537238 | | | 19141475,23043551,23325844,23622243,24843002,26002201,27474439,28753426 http://nanbyodata.jp/ontology/NANDO_1200679 NANDO:1200679 指定難病 Designated intractable disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/29940 29940 DSE chondroitin-glucuronate 5-epimerase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0047757 | http://purl.obolibrary.org/obo/GO_0046872 16505484 | http://nanbyodata.jp/ontology/NANDO_1201089 NANDO:1201089 指定難病 Designated intractable disease 筋拘縮型エーラス・ダンロス症候群 Musculocontractural Ehlers-Danlos syndrome MONDO:0011142 exactMatch http://glycosmos.org/glycogene/22901 22901 ARSG arylsulfatase activity | metal ion binding | N-sulfoglucosamine-3-sulfatase activity http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0033889 12461688,16174644,18283100,29300381 | | 22689975 http://nanbyodata.jp/ontology/NANDO_1200944 NANDO:1200944 指定難病 Designated intractable disease アッシャー症候群3型 Usher syndrome Type III MONDO:0016485 exactMatch http://glycosmos.org/glycogene/29089 29089 UBE2T chromatin binding | ATP binding | ubiquitin-protein transferase activity | protein binding | ubiquitin protein ligase binding | ubiquitin conjugating enzyme activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061631 17938197 | | 16916645,17938197,19111657,20061386 | 24389026,32814053 | 16916645,17938197,19111657 | 19589784 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/8526 8526 DGKE ATP-dependent diacylglycerol kinase activity | zinc ion binding | kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0004143 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 15544348,18004883,19744926,22108654 | | 18004883 | http://nanbyodata.jp/ontology/NANDO_1200726 NANDO:1200726 指定難病 Designated intractable disease 一次性膜性増殖性糸球体腎炎I型 Primary membranoproliferative glomerulonephritis type I MONDO:0014005 exactMatch http://glycosmos.org/glycogene/8788 8788 DLK1 protein binding | calcium ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 32814053 | http://nanbyodata.jp/ontology/NANDO_1200685 NANDO:1200685 指定難病 Designated intractable disease 第14番染色体父親性ダイソミー症候群 Paternal uniparental disomy of chromosome 14 MONDO:0011975 exactMatch http://glycosmos.org/glycogene/8647 8647 ABCB11 carbohydrate transmembrane transporter activity | canalicular bile acid transmembrane transporter activity | ATP binding | protein binding | ATP hydrolysis activity | bile acid transmembrane transporter activity | ABC-type xenobiotic transporter activity | ABC-type bile acid transporter activity http://purl.obolibrary.org/obo/GO_0015144 | http://purl.obolibrary.org/obo/GO_0015126 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015125 | http://purl.obolibrary.org/obo/GO_0008559 | http://purl.obolibrary.org/obo/GO_0015432 | 22262466,24711118,32203132 | | 22262466,32296183 | | 20010382,20398791,29507376 | 18245269 | 15791618,15901796,18985798,32203132 http://nanbyodata.jp/ontology/NANDO_1201044 NANDO:1201044 指定難病 Designated intractable disease 進行性家族性肝内胆汁うっ滞症2型 Progressive familial intrahepatic cholestasis type 2 MONDO:0011156 exactMatch http://glycosmos.org/glycogene/8514 8514 KCNAB2 protein binding | potassium channel regulator activity | transmembrane transporter binding | voltage-gated potassium channel activity | aldo-keto reductase (NADP) activity | methylglyoxal reductase (NADPH-dependent, acetol producing) http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0004033 | http://purl.obolibrary.org/obo/GO_1990002 21357749,32814053,33961781 | 7649300 | | | | http://nanbyodata.jp/ontology/NANDO_1200682 NANDO:1200682 指定難病 Designated intractable disease 1ｐ36欠失症候群 1p36 deletion syndrome MONDO:0011929 exactMatch http://glycosmos.org/glycogene/4089 4089 SMAD4 DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein binding | transcription cis-regulatory region binding | transcription coactivator binding | DNA-binding transcription factor activity | sulfate binding | DNA-binding transcription activator activity, RNA polymerase II-specific | collagen binding | R-SMAD binding | DNA binding | sequence-specific DNA binding | I-SMAD binding | filamin binding | transcription corepressor binding | chromatin binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0031005 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | 8774881 | | 10647180,21988832,25609649,9111321 | 17438144 | 16777850 | 10823886,17438144 | 10647180 | 18832382,9389648 | | 8774881,9111321,9311995,9732876 | 9389648 | 10823886 | 9256479 | | 14612439 | | | 11278302,11779503,11779505,12419246,14525983,14671321,15084259,15231748,15350224,15881652,16189514,16865698,17099224,17183365,17469184,18511908,18568018,18729074,18832382,19032343,19135894,20211142,20603019,21297662,21532621,21597466,21988832,22045334,22442258,23201680,23602568,24412244,25310401,25416956,25502805,25514493,25609649,25910212,26878725,26977879,27107012,29892012,29997244,31467278,31515488,32296183,32814053,33961781,39243984,9389648,9436979,9707553 | 18832382,31582430,9389648 http://nanbyodata.jp/ontology/NANDO_1200744 NANDO:1200744 指定難病 Designated intractable disease オスラー病 Osler disease MONDO:0019180 exactMatch http://glycosmos.org/glycogene/8085 8085 KMT2D histone H3K4 monomethyltransferase activity | metal ion binding | transcription cis-regulatory region binding | histone H3K4 methyltransferase activity | transcription coactivator activity | zinc ion binding | protein binding | histone H3K4 trimethyltransferase activity | DNA binding http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0003677 | | 16603732 | | | | 15960975,16603732,17178841,17500065,22266653,22665483,22722839,24981860,26886794,27705803,33640491,33961781,37725512,39009827 | | 9247308 http://nanbyodata.jp/ontology/NANDO_1200672 NANDO:1200672 指定難病 Designated intractable disease 歌舞伎症候群 Kabuki syndrome MONDO:0016512 exactMatch http://glycosmos.org/glycogene/8842 8842 PROM1 cadherin binding | protein binding | actinin binding | cholesterol binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0015485 18654668 | 18654668,23084749,24556617 | 18654668 | http://nanbyodata.jp/ontology/NANDO_1200933 NANDO:1200933 指定難病 Designated intractable disease Stargardt病 Stargardt disease MONDO:0019353 exactMatch http://glycosmos.org/glycogene/79728 79728 PALB2 protein binding | DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 17420451,19369211,19423707,19609323,20332121,20871616,22193777,22244764,22293751,24141787,24485656,25960410,26833090,28319063,28514442,29656893,30410870,32296183,33961781,34591612 | 20871616 http://nanbyodata.jp/ontology/NANDO_1200891 NANDO:1200891 指定難病 Designated intractable disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/51227 51227 PIGP phosphatidylinositol N-acetylglucosaminyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0017176 | http://purl.obolibrary.org/obo/GO_0005515 10944123 | 10944123,16162815,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_1200593 NANDO:1200593 指定難病 Designated intractable disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/538 538 ATP7A cuprous ion binding | P-type monovalent copper transporter activity | copper ion binding | copper ion transmembrane transporter activity | ATP hydrolysis activity | ATP binding | protein binding | protein-folding chaperone binding | P-type divalent copper transporter activity | superoxide dismutase copper chaperone activity | copper-dependent protein binding | small GTPase binding http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005375 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0016532 | http://purl.obolibrary.org/obo/GO_0032767 | http://purl.obolibrary.org/obo/GO_0031267 14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | http://nanbyodata.jp/ontology/NANDO_1200653 NANDO:1200653 指定難病 Designated intractable disease メンケス病 Menkes disease MONDO:0010651 exactMatch http://glycosmos.org/glycogene/538 538 ATP7A cuprous ion binding | P-type monovalent copper transporter activity | copper ion binding | copper ion transmembrane transporter activity | ATP hydrolysis activity | ATP binding | protein binding | protein-folding chaperone binding | P-type divalent copper transporter activity | superoxide dismutase copper chaperone activity | copper-dependent protein binding | small GTPase binding http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005375 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0016532 | http://purl.obolibrary.org/obo/GO_0032767 | http://purl.obolibrary.org/obo/GO_0031267 14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | http://nanbyodata.jp/ontology/NANDO_1200654 NANDO:1200654 指定難病 Designated intractable disease オクシピタル・ホーン症候群 Occipital horn syndrome MONDO:0010572 exactMatch http://glycosmos.org/glycogene/546 546 ATRX DNA clamp loader activity | chromatin extrusion motor activity | zinc ion binding | chromatin DNA binding | DNA translocase activity | metal ion binding | single-stranded 3'-5' DNA helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP-dependent H2AZ histone chaperone activity | methylated histone binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | histone binding | ATP hydrolysis activity | chromatin binding | cohesin loader activity | chromo shadow domain binding | double-stranded DNA helicase activity | ATP binding http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0015616 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0005524 | | | | 12953102 | | | | | 21421568 | | | 10699177,12953102,17296936,22102817,22391447,24651726,24981860,25417162,26373281,26496610,27029610,33961781 | 20211137,22391447 | | 27029610 | | 15882967 | | http://nanbyodata.jp/ontology/NANDO_1200665 NANDO:1200665 指定難病 Designated intractable disease ATR-X症候群 ATR-X syndrome MONDO:0010519 exactMatch http://glycosmos.org/glycogene/554 554 AVPR2 protein binding | vasopressin receptor activity | peptide binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005000 | http://purl.obolibrary.org/obo/GO_0042277 12409230,21056967,23236378,32296183 | 8882880,9322919 | http://nanbyodata.jp/ontology/NANDO_1200742 NANDO:1200742 指定難病 Designated intractable disease 先天性腎性尿崩症 Congenital nephrogenic diabetes insipidus MONDO:0016383 exactMatch http://glycosmos.org/glycogene/161582 161582 DNAAF4 protein binding | nuclear estrogen receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331 19423554,20562859,23872636,25416956,26871637,28041644,29601588,32296183 | 19423554 http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/161582 161582 DNAAF4 protein binding | nuclear estrogen receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331 19423554,20562859,23872636,25416956,26871637,28041644,29601588,32296183 | 19423554 http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/1767 1767 DNAH5 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0051959 | | | | http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/1767 1767 DNAH5 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0051959 | | | | http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/1770 1770 DNAH9 dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 30471718 http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/1770 1770 DNAH9 dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 30471718 http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/200373 200373 CFAP221 calmodulin binding http://purl.obolibrary.org/obo/GO_0005516 "" http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/200373 200373 CFAP221 calmodulin binding http://purl.obolibrary.org/obo/GO_0005516 "" http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/115399 115399 LRRC56 protein binding http://purl.obolibrary.org/obo/GO_0005515 30388400,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/115399 115399 LRRC56 protein binding http://purl.obolibrary.org/obo/GO_0005515 30388400,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/25981 25981 DNAH1 ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0051959 | 9373155 | | | http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/25981 25981 DNAH1 ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0051959 | 9373155 | | | http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/339829 339829 CCDC39 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/339829 339829 CCDC39 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/352909 352909 DNAAF3 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/352909 352909 DNAAF3 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/6674 6674 SPAG1 GTP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787 | http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/6674 6674 SPAG1 GTP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787 | http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/54768 54768 HYDIN protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/54768 54768 HYDIN protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/8701 8701 DNAH11 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | dynein light intermediate chain binding | minus-end-directed microtubule motor activity http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0008569 | | | | http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/8701 8701 DNAH11 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | dynein light intermediate chain binding | minus-end-directed microtubule motor activity http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0008569 | | | | http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/92749 92749 DRC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 34169321 http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/92749 92749 DRC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 34169321 http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/79925 79925 SPEF2 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201096 NANDO:1201096 指定難病 Designated intractable disease 線毛機能不全症候群（カルタゲナー症候群を含む。） Primary ciliary dyskinesia (including Kartagener syndrome) MONDO:0016575 exactMatch http://glycosmos.org/glycogene/79925 79925 SPEF2 "" "" "" http://nanbyodata.jp/ontology/NANDO_1201097 NANDO:1201097 指定難病 Designated intractable disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/340061 340061 STING1 protein kinase binding | cyclic-di-GMP binding | ubiquitin protein ligase binding | RNA polymerase II-specific DNA-binding transcription factor binding | 2',3'-cyclic GMP-AMP binding | identical protein binding | protein homodimerization activity | signaling adaptor activity | protein binding | proton channel activity http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035438 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0061507 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015252 18818105,21074459 | 22705373,29694889 | | 18818105 | 23747010,26669264,30842659,30842662,35388221,37403426 | 19433799,22312431,22728658,22728659,22728660,23542348,30405246,30842659 | 19433799,21074459,22705373 | 23747010,25636800,37832545 | 18724357,18818105,19416887,19433799,20080758,20628368,20890285,21903422,22000020,22312431,22908223,22911572,23542348,24560620,24622840,25299331,26405230,27302953,29251827,29429998,30104205,30842662,32296183,35013224 | 37535724 http://nanbyodata.jp/ontology/NANDO_1201110 NANDO:1201110 指定難病 Designated intractable disease 乳児発症 STING 関連血管炎 STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy MONDO:0014405 exactMatch http://glycosmos.org/glycogene/37 37 ACADVL fatty-acyl-CoA binding | acyl-CoA dehydrogenase activity | identical protein binding | protein binding | flavin adenine dinucleotide binding | long-chain-acyl-CoA dehydrogenase activity | very-long-chain-acyl-CoA dehydrogenase activity http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0003995 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0004466 | http://purl.obolibrary.org/obo/GO_0017099 | 9461620,9599005 | 9461620,9599005 | 32296183 | 9461620 | 7668252 | 9461620 http://nanbyodata.jp/ontology/NANDO_1201109 NANDO:1201109 指定難病 Designated intractable disease 極長鎖アシル-CoA 脱水素酵素欠損症 very long-chain acyl-CoA dehydrogenase MONDO:0008723 exactMatch http://glycosmos.org/glycogene/2073 2073 ERCC5 endonuclease activity | endodeoxyribonuclease activity | single-stranded DNA binding | metal ion binding | RNA polymerase II complex binding | bubble DNA binding | protein homodimerization activity | double-stranded DNA binding | DNA endonuclease activity | damaged DNA binding | enzyme activator activity | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0004519 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000993 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 32522879,32821917 | 12644470,8090225 | 12644470 | | 16246722 | 16246722,32821917 | 10026181 | 12644470,8090225 | 12644470,8090225 | 32821917 | 9927729 | 11259578 | 15358233,16246722,17268471,26833090,8652557,9305916,9927729 http://nanbyodata.jp/ontology/NANDO_1201166 NANDO:1201166 指定難病 Designated intractable disease コケイン症候群合併型 Xeroderma pigmentosum-Cockayne syndrome MONDO:0016354 exactMatch http://glycosmos.org/glycogene/2074 2074 ERCC6 ATP-dependent chromatin remodeler activity | DNA helicase activity | ATP-dependent activity, acting on DNA | DNA binding | RNA polymerase binding | helicase activity | protein binding | ATP hydrolysis activity | ATP binding | chromatin binding | protein tyrosine kinase activator activity | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0030296 | http://purl.obolibrary.org/obo/GO_0043565 29203878 | 8999876 | 12560492,16107709,25820262,8999876 | 12560492,16107709,8999876 | 26218421 | | 10944529,16107709,16246722,17626041,22466612,24874740,26030138,28292928,29203878,7663514,7664335,8999876 | | 12560492,16107709 | 25820262,26620705 | 17626041 | 22483866 http://nanbyodata.jp/ontology/NANDO_1201163 NANDO:1201163 指定難病 Designated intractable disease コケイン症候群I型 Cockayne syndrome type 1 MONDO:0019569 exactMatch http://glycosmos.org/glycogene/2074 2074 ERCC6 ATP-dependent chromatin remodeler activity | DNA helicase activity | ATP-dependent activity, acting on DNA | DNA binding | RNA polymerase binding | helicase activity | protein binding | ATP hydrolysis activity | ATP binding | chromatin binding | protein tyrosine kinase activator activity | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0030296 | http://purl.obolibrary.org/obo/GO_0043565 29203878 | 8999876 | 12560492,16107709,25820262,8999876 | 12560492,16107709,8999876 | 26218421 | | 10944529,16107709,16246722,17626041,22466612,24874740,26030138,28292928,29203878,7663514,7664335,8999876 | | 12560492,16107709 | 25820262,26620705 | 17626041 | 22483866 http://nanbyodata.jp/ontology/NANDO_1201164 NANDO:1201164 指定難病 Designated intractable disease コケイン症候群II型 Cockayne syndrome type 2 MONDO:0019570 exactMatch http://glycosmos.org/glycogene/2074 2074 ERCC6 ATP-dependent chromatin remodeler activity | DNA helicase activity | ATP-dependent activity, acting on DNA | DNA binding | RNA polymerase binding | helicase activity | protein binding | ATP hydrolysis activity | ATP binding | chromatin binding | protein tyrosine kinase activator activity | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0030296 | http://purl.obolibrary.org/obo/GO_0043565 29203878 | 8999876 | 12560492,16107709,25820262,8999876 | 12560492,16107709,8999876 | 26218421 | | 10944529,16107709,16246722,17626041,22466612,24874740,26030138,28292928,29203878,7663514,7664335,8999876 | | 12560492,16107709 | 25820262,26620705 | 17626041 | 22483866 http://nanbyodata.jp/ontology/NANDO_1201165 NANDO:1201165 指定難病 Designated intractable disease コケイン症候群III型 Cockayne syndrome type 3 MONDO:0008998 exactMatch http://glycosmos.org/glycogene/2200 2200 FBN1 calcium ion binding | hormone activity | heparin binding | protein binding | integrin binding | extracellular matrix constituent conferring elasticity | identical protein binding | protein-containing complex binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005201 15062093,7691719 | 27087445,31230984 | 11461921 | 12429738,15131124,15165854,15790312,17293099,18339631,19349279,19570982,21402694,22355679,24039232,25034023,26601954,32296183 | 12807887,15062093,17158881 | 8120105 | 18448684,24035709,25034023 | 15062093 | 20551380,23979707,25037231,27559042,28327460,28675934,3536967 http://nanbyodata.jp/ontology/NANDO_1201158 NANDO:1201158 指定難病 Designated intractable disease マルファン症候群 Marfan syndrome MONDO:0007947 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_1201160 NANDO:1201160 指定難病 Designated intractable disease ファイファー症候群1型 Pfeiffer syndrome type 1 MONDO:0019659 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1201160 NANDO:1201160 指定難病 Designated intractable disease ファイファー症候群1型 Pfeiffer syndrome type 1 MONDO:0019659 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1201161 NANDO:1201161 指定難病 Designated intractable disease ファイファー症候群2型 Pfeiffer syndrome type 2 MONDO:0019660 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_1201162 NANDO:1201162 指定難病 Designated intractable disease ファイファー症候群3型 Pfeiffer syndrome type 3 MONDO:0019661 exactMatch http://glycosmos.org/glycogene/4952 4952 OCRL phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity | small GTPase binding | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | phosphatidylinositol phosphate 4-phosphatase activity | inositol-1,4,5-trisphosphate 5-phosphatase activity | protein binding | GTPase activator activity | inositol-polyphosphate 5-phosphatase activity | inositol phosphate phosphatase activity | inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity http://purl.obolibrary.org/obo/GO_0043813 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0004439 | http://purl.obolibrary.org/obo/GO_0034596 | http://purl.obolibrary.org/obo/GO_0052658 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0004445 | http://purl.obolibrary.org/obo/GO_0052745 | http://purl.obolibrary.org/obo/GO_0052659 | http://purl.obolibrary.org/obo/GO_0034485 | 12915445 | | | | 12915445,16902405,19536138,21233288,21378754,22543976,25107275,25869668,26496610,26824392,27107012,28514442,29125462,32296183,33961781,35271311 | 12915445 | | 1321346,25869668 | | http://nanbyodata.jp/ontology/NANDO_1201116 NANDO:1201116 指定難病 Designated intractable disease ロウ症候群 Lowe syndrome MONDO:0010645 exactMatch http://glycosmos.org/glycogene/7046 7046 TGFBR1 transforming growth factor beta receptor activity, type II | metal ion binding | growth factor binding | SMAD binding | activin binding | BMP receptor activity | transforming growth factor beta receptor activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type I | ATP binding | transforming growth factor beta binding | ubiquitin protein ligase binding | transforming growth factor beta receptor activity, type III | type II transforming growth factor beta receptor binding | activin receptor activity, type II | protein serine/threonine kinase activity | activin receptor activity, type I | I-SMAD binding | protein kinase activity | protein binding http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | | 14517293 | 12065756,18625725,8980228,9311995 | | | 12015308,12065756,1326540,1333888,14633705,18625725 | 12015308,19736306 | 8752209 | 12065756 | 11157754,1326540,1333888,14633705 | 12151385 | | 11157754,1333888 | | 12065756,18625725 | | 11278251 | 19736306 | 10025408,11278302,11279102,11583628,12015308,14517293,14580334,15702480,15761148,17099224,18243111,18625725,18758450,18974388,19732720,20856203,21791611,22344298,23723426,23868260,24263861,24658140,25893292,26583432,8622651 http://nanbyodata.jp/ontology/NANDO_1201159 NANDO:1201159 指定難病 Designated intractable disease ロイス・ディーツ症候群 Loeys–Dietz syndrome MONDO:0018954 exactMatch http://glycosmos.org/glycogene/7048 7048 TGFBR2 activin receptor activity, type II | transforming growth factor beta receptor activity | activin receptor activity, type I | activin receptor activity | SMAD binding | activin binding | transforming growth factor beta receptor activity, type I | BMP receptor activity | transforming growth factor beta binding | ATP binding | protein binding | glycosaminoglycan binding | transforming growth factor beta receptor activity, type II | molecular adaptor activity | transmembrane receptor protein serine/threonine kinase activity | metal ion binding | kinase activator activity | type I transforming growth factor beta receptor binding | protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | type III transforming growth factor beta receptor binding http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0017002 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0034714 | 12015308,1326540,1333888,18453574,7852346,8635485 | | | 11157754,18453574 | | | | 11157754,1326540,1333888,18243111,18453574,34568316,7852346 | | 11157754,11278302,11279102,11483955,11850637,12015308,15702480,16530041,18243111,20856203,20860622,21054789,21423151,21441952,21791611,23178117,23868260,24263861,32814053,35443807,7852346,8242742,8555189,8622651,9865696 | 7852346 | 7774578 | 18243111 | 12015308 | | | 11157754,1333888 | | | 11157754 http://nanbyodata.jp/ontology/NANDO_1201159 NANDO:1201159 指定難病 Designated intractable disease ロイス・ディーツ症候群 Loeys–Dietz syndrome MONDO:0018954 exactMatch http://glycosmos.org/glycogene/7056 7056 THBD calcium ion binding | transmembrane signaling receptor activity | protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | | 14691232,17379830,32296183 | 10761923 http://nanbyodata.jp/ontology/NANDO_1201115 NANDO:1201115 指定難病 Designated intractable disease TM/TAFI 異常症 Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor MONDO:0013775 closeMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2100237 NANDO:2100237 小児慢性特定疾病 Specific pediatric chronic disease 進行性ミオクローヌスてんかん Progressive myoclonus epilepsy MONDO:0020074 exactMatch http://glycosmos.org/glycogene/5054 5054 SERPINE1 protease binding | protein binding | signaling receptor binding | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004867 12114510,15853774,2503541,8508955,8626514 | 16272158,22449964,25416956,28296156,32296183,33961781 | 8626514 | 1695900,8508955 http://nanbyodata.jp/ontology/NANDO_1201113 NANDO:1201113 指定難病 Designated intractable disease PAI-1 欠乏症 PAI-1 deficiency MONDO:0013227 exactMatch http://glycosmos.org/glycogene/5345 5345 SERPINF2 protein homodimerization activity | serine-type endopeptidase inhibitor activity | endopeptidase inhibitor activity | protein binding | protease binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 134998 | 12878203,134998 | 7679575 | 12878203,14687906 | 134998,15853774,17317851,6980881,7679575 http://nanbyodata.jp/ontology/NANDO_1201114 NANDO:1201114 指定難病 Designated intractable disease α2-PI 欠乏症 α2-plasmin inhibitor deficiency MONDO:0009883 exactMatch http://glycosmos.org/glycogene/4001 4001 LMNB1 phospholipase binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton | sequence-specific double-stranded DNA binding | protein binding http://purl.obolibrary.org/obo/GO_0043274 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | 7557986 | | | 21346760,21988832,25158218,26496610,26524528,29568061,29997244,30021884,31467278,32296183,32814053,33961781,35271311,37398436 http://nanbyodata.jp/ontology/NANDO_1201107 NANDO:1201107 指定難病 Designated intractable disease LMNB1 関連大脳白質脳症 Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy MONDO:0008215 exactMatch http://glycosmos.org/glycogene/10568 10568 SLC34A2 phosphate ion binding | sodium:phosphate symporter activity | protein binding | sodium ion binding http://purl.obolibrary.org/obo/GO_0042301 | http://purl.obolibrary.org/obo/GO_0005436 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031402 12488042 | 10329428,10610722,12488042 | 32296183 | 12488042 http://nanbyodata.jp/ontology/NANDO_2200202 NANDO:2200202 小児慢性特定疾病 Specific pediatric chronic disease 肺胞微石症 Pulmonary alveolar microlithiasis MONDO:0009928 exactMatch http://glycosmos.org/glycogene/58 58 ACTA1 ATP binding | hydrolase activity | ADP binding | myosin binding | structural constituent of cytoskeleton | protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 10508519 | | 10508519 | 10508519 | 10508519 | 12849983,18835984,28514442,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_1200483 NANDO:1200483 指定難病 Designated intractable disease 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_2200229 NANDO:2200229 小児慢性特定疾病 Specific pediatric chronic disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/10128 10128 LRPPRC actin filament binding | single-stranded DNA binding | protein binding | microtubule binding | beta-tubulin binding | ubiquitin protein ligase binding | RNA binding | mRNA 3'-UTR binding http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 12762840 | | 15161933,15907802,17050673,19262567,22045337,25959826,26496610,33961781,36931259 | 12762840 | 12762840 | 19725078 | 12832482,22658674,22681889 | http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/1080 1080 CFTR 14-3-3 protein binding | bicarbonate transmembrane transporter activity | protein binding | Sec61 translocon complex binding | chloride transmembrane transporter activity | chloride channel regulator activity | chloride channel inhibitor activity | protein-folding chaperone binding | ATPase-coupled inorganic anion transmembrane transporter activity | ATP binding | ATP hydrolysis activity | enzyme binding | chloride channel activity | PDZ domain binding | ATPase-coupled transmembrane transporter activity | intracellularly ATP-gated chloride channel activity | ABC-type transporter activity | isomerase activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106138 | http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0017081 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043225 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005260 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0016853 26888287 | 15010471,19019741 | 11707463,12369822,12471024,14679199,15247260,16203867,16546175,16901789,17110338,17244609,18555783,19289574,19465887,19878303,20658517,21455491,21884936,22038833,22121115,22178883,22768251,23818989,25661196,25712891,26618866,27092946,28360110,29924966,31324722,35156780,36012204,39009827,9671706,9792704 | 9792704 | | | 22178883 | 16207813 | | | 11524016,8910473 | 19398555 | 11524016,11707463,15010471,18570918,19019741,19621064,22178883,24885604 | 11707463 | | 11707463,8910473 | | http://nanbyodata.jp/ontology/NANDO_2200205 NANDO:2200205 小児慢性特定疾病 Specific pediatric chronic disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/1103 1103 CHAT protein binding | choline O-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004102 32814053 | http://nanbyodata.jp/ontology/NANDO_1201057 NANDO:1201057 指定難病 Designated intractable disease 発作性無呼吸を伴う先天性筋無力症 Congenital myasthenic syndrome with episodic apnoea MONDO:0009689 exactMatch http://glycosmos.org/glycogene/22802 22802 CLCA4 metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005229 | | 10437792 | http://nanbyodata.jp/ontology/NANDO_2200205 NANDO:2200205 小児慢性特定疾病 Specific pediatric chronic disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/1188 1188 CLCNKB voltage-gated chloride channel activity | metal ion binding | chloride channel activity | protein binding http://purl.obolibrary.org/obo/GO_0005247 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005515 | | 12111250 | 12111250 http://nanbyodata.jp/ontology/NANDO_2200145 NANDO:2200145 小児慢性特定疾病 Specific pediatric chronic disease ギッテルマン症候群 Gitelman syndrome MONDO:0009904 exactMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_1200083 NANDO:1200083 指定難病 Designated intractable disease マルチプルサルファターゼ欠損症 Multiple sulfatase deficiency MONDO:0010088 exactMatch http://glycosmos.org/glycogene/10382 10382 TUBB4A GTP binding | protein binding | structural constituent of cytoskeleton | calcium ion binding | GTPase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003924 | 20195357,24275654,31046837 | | 10211825 | http://nanbyodata.jp/ontology/NANDO_1200515 NANDO:1200515 指定難病 Designated intractable disease DYT4ジストニア Dystonia 4 MONDO:0007493 exactMatch http://glycosmos.org/glycogene/1371 1371 CPOX structural constituent of eye lens | coproporphyrinogen oxidase activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005212 | http://purl.obolibrary.org/obo/GO_0004109 | http://purl.obolibrary.org/obo/GO_0042803 | 7987309 | 16176984 http://nanbyodata.jp/ontology/NANDO_1200813 NANDO:1200813 指定難病 Designated intractable disease 遺伝性コプロポルフィリン症 Hereditary coproporphyria MONDO:0007369 exactMatch http://glycosmos.org/glycogene/1373 1373 CPS1 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity | ATP binding | calcium ion binding | metal ion binding | modified amino acid binding | carbamoyl-phosphate synthase (ammonia) activity | small molecule binding | endopeptidase activity | protein-containing complex binding | glutamate binding | protein binding | potassium ion binding | phospholipid binding http://purl.obolibrary.org/obo/GO_0004088 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0072341 | http://purl.obolibrary.org/obo/GO_0004087 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0016595 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0005543 | | | 26592762 | 20031578 | 6249820,8486760,9711878 | 26592762 | | | | 12620389,15161933,20618440 | 26592762 | http://nanbyodata.jp/ontology/NANDO_1200803 NANDO:1200803 指定難病 Designated intractable disease CPSI欠損症 Carbamoyl phosphate synthetase I deficiency MONDO:0009376 exactMatch http://glycosmos.org/glycogene/1374 1374 CPT1A protein-macromolecule adaptor activity | identical protein binding | carnitine O-palmitoyltransferase activity http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004095 38016475 | | 11350182,14517221,7892212,9691089 http://nanbyodata.jp/ontology/NANDO_1200970 NANDO:1200970 指定難病 Designated intractable disease カルニチンパルミトイルトランスフェラーゼI欠損症 Carnitine palmitoyltransferase I deficiency MONDO:0009705 exactMatch http://glycosmos.org/glycogene/1476 1476 CSTB cysteine-type endopeptidase inhibitor activity | protease binding | RNA binding | endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0004869 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004866 3488317,6203523 | 11514663,6203523 | 22658674 | 3053245 http://nanbyodata.jp/ontology/NANDO_1200954 NANDO:1200954 指定難病 Designated intractable disease ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/1636 1636 ACE metalloendopeptidase activity | bradykinin receptor binding | zinc ion binding | metallopeptidase activity | heterocyclic compound binding | tripeptidyl-peptidase activity | exopeptidase activity | protein binding | peptidyl-dipeptidase activity | endopeptidase activity | actin binding | calmodulin binding | peptidase activity | mitogen-activated protein kinase binding | chloride ion binding | metal ion binding | metallodipeptidase activity | mitogen-activated protein kinase kinase binding | carboxypeptidase activity | metallocarboxypeptidase activity http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0031711 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_1901363 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0008238 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008241 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0051019 | http://purl.obolibrary.org/obo/GO_0031404 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070573 | http://purl.obolibrary.org/obo/GO_0031434 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0004181 6208535,7683654 | 17077303 | 12540854 | 1320019,1668266,17077303,2554286,2849100 | | 2983326 | 2983326 | 16186248,22523556 | 11303049,11432860,1320019,15283675,1668266,17077303,1851160,19773553,20826823,2554286,26403559,2849100,4322742,6055465,6208535,6270633,656131,7683654,7876104,8257427 | 15283675,18495113 | 16186248 | | 11604391,16154999,18077343 | 14615289 | 11432860,12540854 | | 7961923 | 14615289 | | http://nanbyodata.jp/ontology/NANDO_2200121 NANDO:2200121 小児慢性特定疾病 Specific pediatric chronic disease IgA腎症 IgA nephropathy MONDO:0005342 exactMatch http://glycosmos.org/glycogene/1674 1674 DES cytoskeletal protein binding | identical protein binding | structural constituent of cytoskeleton | protein binding http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 11309420 | 21135508,32296183 | | 11353857,16923132,20706999,21135508,23615443,24940650,25416956,26816005,26871637,27107012,27733623,28470624,28514442,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/1813 1813 DRD2 G-protein alpha-subunit binding | identical protein binding | heterocyclic compound binding | protein binding | potassium channel regulator activity | dopamine neurotransmitter receptor activity, coupled via Gi/Go | G protein-coupled receptor activity | dopamine binding | heterotrimeric G-protein binding | ionotropic glutamate receptor binding http://purl.obolibrary.org/obo/GO_0001965 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1901363 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_0001591 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0035240 | http://purl.obolibrary.org/obo/GO_0032795 | http://purl.obolibrary.org/obo/GO_0035255 33571431 | 18668123,23624386,23637801,28734930 | | 10692483,12297500,17380124,32493513 | 12297500 | 2531656,8301582 | | | 33571431 | http://nanbyodata.jp/ontology/NANDO_1200522 NANDO:1200522 指定難病 Designated intractable disease DYT11ジストニア Dystonia 11 MONDO:0000903 exactMatch http://glycosmos.org/glycogene/1861 1861 TOR1A ATP-dependent protein folding chaperone | unfolded protein binding | protein binding | ATP hydrolysis activity | ATP binding | identical protein binding | misfolded protein binding | kinesin binding | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0140662 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051787 | http://purl.obolibrary.org/obo/GO_0019894 | http://purl.obolibrary.org/obo/GO_0008092 15505207,24930953 | 10814722 | 15147511,15505207,15767459,18167355,18827015,21102408,23569223,25416956,25910212,32296183,32814053,33961781 | 23569223 | | 20015956,24930953 | | 14970196 | 16361107,18827015 http://nanbyodata.jp/ontology/NANDO_1200512 NANDO:1200512 指定難病 Designated intractable disease DYT1ジストニア Dystonia 1 MONDO:0007492 exactMatch http://glycosmos.org/glycogene/1861 1861 TOR1A ATP-dependent protein folding chaperone | unfolded protein binding | protein binding | ATP hydrolysis activity | ATP binding | identical protein binding | misfolded protein binding | kinesin binding | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0140662 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051787 | http://purl.obolibrary.org/obo/GO_0019894 | http://purl.obolibrary.org/obo/GO_0008092 15505207,24930953 | 10814722 | 15147511,15505207,15767459,18167355,18827015,21102408,23569223,25416956,25910212,32296183,32814053,33961781 | 23569223 | | 20015956,24930953 | | 14970196 | 16361107,18827015 http://nanbyodata.jp/ontology/NANDO_1200522 NANDO:1200522 指定難病 Designated intractable disease DYT11ジストニア Dystonia 11 MONDO:0000903 exactMatch http://glycosmos.org/glycogene/3679 3679 ITGA7 metal ion binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | 22779914 | http://nanbyodata.jp/ontology/NANDO_1200483 NANDO:1200483 指定難病 Designated intractable disease 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/10008 10008 KCNE3 potassium channel regulator activity | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | transmembrane transporter binding | delayed rectifier potassium channel activity | protein binding | voltage-gated potassium channel activity http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005249 12954870 | | | | 20533308 | http://nanbyodata.jp/ontology/NANDO_1200503 NANDO:1200503 指定難病 Designated intractable disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/6804 6804 STX1A SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | SNARE binding http://purl.obolibrary.org/obo/GO_0005484 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0000149 | 24722188,32296183 | 12730201 | | 10321247,10481273,12730201,15459722,16169070,19748891,20798282,24722188,26635000,30610939,32296183 | 18570918 | http://nanbyodata.jp/ontology/NANDO_2200205 NANDO:2200205 小児慢性特定疾病 Specific pediatric chronic disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/6834 6834 SURF1 protein binding | cytochrome-c oxidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129 23260140,26321642 | http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/23090 23090 ZNF423 zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | metal ion binding | sequence-specific DNA binding | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 27727273 | 19345331,22863007 http://nanbyodata.jp/ontology/NANDO_1200662 NANDO:1200662 指定難病 Designated intractable disease 有馬症候群 Arima syndrome MONDO:0009480 exactMatch http://glycosmos.org/glycogene/23230 23230 VPS13A protein binding http://purl.obolibrary.org/obo/GO_0005515 17474147,30709847,30741634 http://nanbyodata.jp/ontology/NANDO_1200014 NANDO:1200014 指定難病 Designated intractable disease 有棘赤血球舞踏病 Chorea-acanthocytosis MONDO:0008695 exactMatch http://glycosmos.org/glycogene/23347 23347 SMCHD1 ATP-dependent H3-H4 histone complex chaperone activity | DNA clamp loader activity | cohesin loader activity | ATP hydrolysis activity | ATP binding | protein binding | DNA binding | chromatin extrusion motor activity | ATP-dependent H2AZ histone chaperone activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0042803 | | | | | 23542155,26496610 | | | | http://nanbyodata.jp/ontology/NANDO_1200491 NANDO:1200491 指定難病 Designated intractable disease 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy MONDO:0001347 exactMatch http://glycosmos.org/glycogene/23005 23005 MAPKBP1 protein binding http://purl.obolibrary.org/obo/GO_0005515 22700971,25416956,28089251,32296183 http://nanbyodata.jp/ontology/NANDO_2200140 NANDO:2200140 小児慢性特定疾病 Specific pediatric chronic disease ネフロン癆 Nephronophthisis MONDO:0009728 closeMatch http://glycosmos.org/glycogene/2212 2212 FCGR2A IgG binding | protein binding | IgG receptor activity http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770 | 25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_2200205 NANDO:2200205 小児慢性特定疾病 Specific pediatric chronic disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/2218 2218 FKTN phosphotransferase activity, for other substituted phosphate groups | protein binding http://purl.obolibrary.org/obo/GO_0016780 | http://purl.obolibrary.org/obo/GO_0005515 26923585,27194101,29477842 | 17034757,27601598,28514442,29477842,33961781 http://nanbyodata.jp/ontology/NANDO_1200494 NANDO:1200494 指定難病 Designated intractable disease 福山型先天性筋ジストロフィー Fukuyama type congenital muscular dystrophy MONDO:0009678 exactMatch http://glycosmos.org/glycogene/2243 2243 FGA protein binding | cell adhesion molecule binding | protein-macromolecule adaptor activity | metal ion binding | signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 10954706,12706644,22582013,26091039,28514442,32296183,32814053,33961781 | 9182580 | | | 10903502 | 10891444,8910396 | 25037231,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2200138 NANDO:2200138 小児慢性特定疾病 Specific pediatric chronic disease アミロイド腎 Amyloid nephropathy MONDO:0007099 closeMatch http://glycosmos.org/glycogene/2318 2318 FLNC cytoskeletal protein binding | protein binding | ankyrin binding | identical protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051015 17987659 | 11038172,16076904,16631741,17360532,17474147,21223964,22972877,33961781 | 21223964 | 15642266 | http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/2324 2324 FLT4 platelet-derived growth factor beta-receptor activity | transmembrane-ephrin receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | stem cell factor receptor activity | GPI-linked ephrin receptor activity | brain-derived neurotrophic factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | epidermal growth factor receptor activity | insulin-like growth factor receptor activity | insulin receptor activity | protein binding | protein homodimerization activity | protein phosphatase binding | vascular endothelial growth factor receptor activity | growth factor binding | macrophage colony-stimulating factor receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0004714 | | | | | | | | | | | | 16530705,20224550,21130043,22939624,23878260,27991863,35384245 | 23878260 | 20826270 | 11532940,19779139,23878260,9012504 | 9435229 | | | | | 7898938 http://nanbyodata.jp/ontology/NANDO_2200254 NANDO:2200254 小児慢性特定疾病 Specific pediatric chronic disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2335 2335 FN1 proteoglycan binding | signaling receptor binding | extracellular matrix structural constituent | protein binding | collagen binding | heparin binding | protease binding | receptor ligand activity | peptidase activator activity | integrin binding | identical protein binding http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0016504 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0042802 29030641 | 34089617 | 20551380,23979707,25037231,27559042,28327460,28344315,28675934 | 10627046,10788510,11377428,11773026,11956183,12167537,12225811,12421310,12736686,1400330,15165854,15292204,16336961,16457822,16677310,17130124,1747115,17849409,18042364,18160478,18243143,18323857,18411296,18713862,19220903,19429745,19542224,19738201,20080707,20541508,20875085,20879998,20979576,21569203,22442151,24136289,24388360,25034023,25290767,25293691,2531657,25416956,26627825,26848503,27141819,27616280,30082873,3141278,31759052,33961781,33962943,34968453,9269765,9278415 | 3024962 | 10075919 | 22952693 | | | 11792823,19738201,24658351,33962943 | 17914904,18042364,19826086,19931242,20541508 http://nanbyodata.jp/ontology/NANDO_2200133 NANDO:2200133 小児慢性特定疾病 Specific pediatric chronic disease フィブロネクチン腎症 Glomerulopathy with fibronectin deposits, fibronectin nephropathy MONDO:0007671 exactMatch http://glycosmos.org/glycogene/2548 2548 GAA carbohydrate binding | alpha-glucosidase activity | alpha-1,4-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0004558 | 5264799 | 29061980,9505277 http://nanbyodata.jp/ontology/NANDO_1200825 NANDO:1200825 指定難病 Designated intractable disease 筋型糖原病II型 Glycogen storage diseases type II MONDO:0009290 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_1200074 NANDO:1200074 指定難病 Designated intractable disease クラッベ病 Krabbe disease MONDO:0009499 exactMatch http://glycosmos.org/glycogene/2626 2626 GATA4 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | sequence-specific double-stranded DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | NFAT protein binding | DNA-binding transcription factor activity | DNA-binding transcription activator activity | DNA binding | transcription cis-regulatory region binding | protein kinase binding | zinc ion binding | co-SMAD binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0051525 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0070410 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0043565 10075728,12845333,15485867,16199874,17053787,21220346,24000169,35182466,9312027 | 21330551,9858576 | 28473536 | 21330551 | | 9312027 | 29325903 | 24000169 | 9566909 | | | 21330551 | 21220346 | | 21220346,21330551 | http://nanbyodata.jp/ontology/NANDO_2200254 NANDO:2200254 小児慢性特定疾病 Specific pediatric chronic disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_1200827 NANDO:1200827 指定難病 Designated intractable disease 筋型糖原病IV型 Glycogen storage diseases type IV MONDO:0009292 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_1200850 NANDO:1200850 指定難病 Designated intractable disease 肝型糖原病IV型 Hepatic glycogen storage disease type IV MONDO:0009292 closeMatch http://glycosmos.org/glycogene/2657 2657 GDF1 cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://nanbyodata.jp/ontology/NANDO_2200254 NANDO:2200254 小児慢性特定疾病 Specific pediatric chronic disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/2998 2998 GYS2 glycogen (starch) synthase activity | glycogen synthase activity, transferring glucose-1-phosphate http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0061547 1731614,9691087 | http://nanbyodata.jp/ontology/NANDO_1200824 NANDO:1200824 指定難病 Designated intractable disease 筋型糖原病0型 Glycogen storage diseases type 0 MONDO:0009414 exactMatch http://glycosmos.org/glycogene/4594 4594 MMUT protein homodimerization activity | GTPase activity | protein binding | identical protein binding | methylmalonyl-CoA mutase activity | cobalamin binding | modified amino acid binding | metal ion binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004494 | http://purl.obolibrary.org/obo/GO_0031419 | http://purl.obolibrary.org/obo/GO_0072341 | http://purl.obolibrary.org/obo/GO_0046872 20876572 | 20876572 | 20876572,21138732,28497574,28943303,32814053 | 20876572 | 1978672,21138732,24458,2453061,27167370,28101778,28943303 | 1978672,20876572,21138732,28943303 | 20031578 | http://nanbyodata.jp/ontology/NANDO_1200794 NANDO:1200794 指定難病 Designated intractable disease コバラミン代謝異常（MCM欠損症） Methylmalonyl-Coenzyme A mutase deficiency MONDO:0009612 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_2200229 NANDO:2200229 小児慢性特定疾病 Specific pediatric chronic disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_2200260 NANDO:2200260 小児慢性特定疾病 Specific pediatric chronic disease エプスタイン病 Ebstein's anomaly MONDO:0009144 exactMatch http://glycosmos.org/glycogene/4719 4719 NDUFS1 NADH dehydrogenase (ubiquinone) activity | 4 iron, 4 sulfur cluster binding | 2 iron, 2 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0051537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 15824269,16478720,16870178,30879903,31557978,9878551 | | | 15186778,30879903,32807793,32814053 | | 1935949 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/4868 4868 NPHS1 cell adhesion molecule binding | myosin binding | protein binding http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005515 | 21402783 | 16525419,21858180,22662192 http://nanbyodata.jp/ontology/NANDO_2200110 NANDO:2200110 小児慢性特定疾病 Specific pediatric chronic disease フィンランド型先天性ネフローゼ症候群 Congenital nephrotic syndrome of the Finnish type MONDO:0009732 exactMatch http://glycosmos.org/glycogene/7040 7040 TGFB1 type II transforming growth factor beta receptor binding | transforming growth factor beta receptor binding | enzyme binding | type III transforming growth factor beta receptor binding | protein-containing complex binding | cytokine activity | protein binding | protein serine/threonine kinase activator activity | growth factor activity | type I transforming growth factor beta receptor binding | identical protein binding | deubiquitinase activator activity http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005160 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0034714 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035800 11157754,1333888,8167376 | | 19366691 | 10092230,8167376 | | 24263861,26572508,32644293 | 10092230,10746731,10885742,10930463,11157754,1326540,15247411,15864306,17827158,18672106,19651619,2022183,20505824,20599762,20856203,20860622,21054789,2119582,21441952,21677751,25241761,25416956,25548275,27339457,28514442,29909984,32296183,33961781,35443807,7852346,8370410,8617200 | 32644293 | 31368162 | 10885742,8167376 | 21677751 | 32644293 http://nanbyodata.jp/ontology/NANDO_2200205 NANDO:2200205 小児慢性特定疾病 Specific pediatric chronic disease 嚢胞性線維症 Cystic fibrosis MONDO:0009061 exactMatch http://glycosmos.org/glycogene/7137 7137 TNNI3 calcium channel inhibitor activity | troponin T binding | protein kinase binding | actin filament binding | calcium-dependent protein binding | protein binding | troponin C binding | actin binding | protein domain specific binding http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0031014 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030172 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0019904 12809519 | 15542288 | 12721663 | 25771144 | 7957210 | 10806205,12525172,12721663,12809519,12840750,16516408,18986304,21569246,23369981,25910212,28514442,29997244,32296183,32814053,33961781 | 11735257,15542288,7957210 | 10806205 | 11984006 http://nanbyodata.jp/ontology/NANDO_2200229 NANDO:2200229 小児慢性特定疾病 Specific pediatric chronic disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/7273 7273 TTN 3-phosphoinositide-dependent protein kinase activity | calcium ion binding | structural molecule activity conferring elasticity | telethonin binding | protein binding | histone H3S10 kinase activity | histone H3S57 kinase activity | ribosomal protein S6 kinase activity | protease binding | identical protein binding | calmodulin binding | histone H3S28 kinase activity | histone H2BS14 kinase activity | histone H3T45 kinase activity | structural constituent of muscle | histone H2AXS139 kinase activity | muscle alpha-actinin binding | protein serine kinase activity | protein tyrosine kinase activity | DNA-dependent protein kinase activity | histone H4S1 kinase activity | histone H2AS121 kinase activity | ATP binding | histone H2BS36 kinase activity | Rho-dependent protein serine/threonine kinase activity | enzyme binding | protein homodimerization activity | histone H2AS1 kinase activity | histone H2AT120 kinase activity | AMP-activated protein kinase activity | protein kinase regulator activity | actin filament binding | histone H3T3 kinase activity | protein serine/threonine kinase activity | histone H3T6 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T11 kinase activity | actinin binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0097493 | http://purl.obolibrary.org/obo/GO_0031433 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0008307 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0051371 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0019901 | 7607248 | 23283722,9804419 | 11846417,15582318 | 11101506,11448995,11717165,11846417,12482578,14583192,15582318,16407954,16902413,16962094,18157088,19622741,20133654,20489725,20562859,20860623,23414517,25447537,35044719,7607248,9501083 | | | | 9642272 | 16407954,16962974,23414517,9804419 | 10481174,7607248 | | | | 11846417,7569978,9817758 | | 9501083 | | 18765796 | | | | | | | 18310072 | 9804419 | | | | 9804419 | 9501083 | | 9804419 | | | | 11846417,9501083 | 23283722 http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/7276 7276 TTR thyroid hormone binding | molecular sequestering activity | protein binding | hormone activity | identical protein binding http://purl.obolibrary.org/obo/GO_0070324 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0042802 | | 16189514,16716307,18272491,20646067,21777382,21900206,25416956,29892012,29997244,30213975,31515488,32296183,32814053,33961781,986177 | | 19861125,21422279,21740906,21777382,23792159,23850452 http://nanbyodata.jp/ontology/NANDO_1200214 NANDO:1200214 指定難病 Designated intractable disease 遺伝性トランスサイレチンアミロイドーシス Hereditary Transthyretin Amyloidosis MONDO:0007100 closeMatch http://glycosmos.org/glycogene/80025 80025 PANK2 protein binding | pantothenate kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004594 | http://purl.obolibrary.org/obo/GO_0005524 15161933,32814053,35271311 | 15659606,16272150,17242360,22221393 | http://nanbyodata.jp/ontology/NANDO_1200534 NANDO:1200534 指定難病 Designated intractable disease NBIA1 Neurodegeneration with brain iron accumulation type 1 MONDO:0009319 exactMatch http://glycosmos.org/glycogene/57190 57190 SELENON calcium ion binding | oxidoreductase activity | protein binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | | 17474147,18713863,33961781 http://nanbyodata.jp/ontology/NANDO_1200483 NANDO:1200483 指定難病 Designated intractable disease 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/57545 57545 CC2D2A "" "" "" http://nanbyodata.jp/ontology/NANDO_1200662 NANDO:1200662 指定難病 Designated intractable disease 有馬症候群 Arima syndrome MONDO:0009480 exactMatch http://glycosmos.org/glycogene/178 178 AGL 4-alpha-glucanotransferase activity | glycogen debranching enzyme activity | protein binding | polyubiquitin modification-dependent protein binding | polysaccharide binding | amylo-alpha-1,6-glucosidase activity http://purl.obolibrary.org/obo/GO_0004134 | http://purl.obolibrary.org/obo/GO_0004133 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0004135 2961257 | | 17908927,24837458 | | | 2961257 http://nanbyodata.jp/ontology/NANDO_1200826 NANDO:1200826 指定難病 Designated intractable disease 筋型糖原病III型 Glycogen storage diseases type III MONDO:0009291 exactMatch http://glycosmos.org/glycogene/178 178 AGL 4-alpha-glucanotransferase activity | glycogen debranching enzyme activity | protein binding | polyubiquitin modification-dependent protein binding | polysaccharide binding | amylo-alpha-1,6-glucosidase activity http://purl.obolibrary.org/obo/GO_0004134 | http://purl.obolibrary.org/obo/GO_0004133 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0004135 2961257 | | 17908927,24837458 | | | 2961257 http://nanbyodata.jp/ontology/NANDO_1201019 NANDO:1201019 指定難病 Designated intractable disease 肝型糖原病III型 Hepatic glycogen storage disease type III MONDO:0009291 closeMatch http://glycosmos.org/glycogene/79583 79583 TMEM231 protein binding http://purl.obolibrary.org/obo/GO_0005515 25416956,26595381 http://nanbyodata.jp/ontology/NANDO_1200662 NANDO:1200662 指定難病 Designated intractable disease 有馬症候群 Arima syndrome MONDO:0009480 exactMatch http://glycosmos.org/glycogene/335 335 APOA1 heat shock protein binding | high-density lipoprotein particle receptor binding | receptor ligand activity | cholesterol transfer activity | cholesterol binding | chemorepellent activity | protein homodimerization activity | apolipoprotein A-I receptor binding | identical protein binding | amyloid-beta binding | phospholipid binding | apolipoprotein receptor binding | protein binding | enzyme binding | high-density lipoprotein particle binding | signaling receptor binding | phosphatidylcholine-sterol O-acyltransferase activator activity http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0070653 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0060228 11027668 | 10764676,12651854 | 27477018 | 15464323,9651324 | 15464323 | 23726972 | | 16443932 | 17676061,18719128,20133843,20884842,22184756,22609356,24316228,24702826,8049247 | 11297421,9211985 | 12810715 | 11162594 | 11297421,11991719,12084722,12917409,14967812,1587806,17676061,17786215,19758344,21900206,23719382,25416956,25910212,28514442,28565870,28887769,30458687,31270237,32296183,32814053,33961781 | 1587806 | | 27477018 | 4335615 http://nanbyodata.jp/ontology/NANDO_2200138 NANDO:2200138 小児慢性特定疾病 Specific pediatric chronic disease アミロイド腎 Amyloid nephropathy MONDO:0007099 closeMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_1200166 NANDO:1200166 指定難病 Designated intractable disease 小児大脳型副腎白質ジストロフィー Childhood cerebral adrenoleukodystrophy MONDO:0010247 exactMatch http://glycosmos.org/glycogene/182 182 JAG1 phospholipid binding | molecular adaptor activity | structural molecule activity | growth factor activity | calcium ion binding | Notch binding | protein binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005112 | http://purl.obolibrary.org/obo/GO_0005515 22465068 | 16427310 | 10679295 | 11067884 | | 11006133,9268641 | 18660822,23086448 http://nanbyodata.jp/ontology/NANDO_2200254 NANDO:2200254 小児慢性特定疾病 Specific pediatric chronic disease ファロー四徴症 Tetralogy of Fallot MONDO:0008542 exactMatch http://glycosmos.org/glycogene/80207 80207 OPA3 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200992 NANDO:1200992 指定難病 Designated intractable disease メチルグルタコン酸尿症III型 3-methylglutaconic aciduria type III MONDO:0009787 exactMatch http://glycosmos.org/glycogene/9531 9531 BAG3 protein carrier chaperone | protein binding | adenyl-nucleotide exchange factor activity | dynein intermediate chain binding | protein-folding chaperone binding | cadherin binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000774 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0044877 21681022 | 16189514,19229298,21044950,21516116,22366786,23434281,24318877,24510904,25036637,25277244,25416956,26159920,26496610,27880917,28144995,28514442,31515488,32296183,32707033,32814053,33961781 | 20060297,24318877 | 21252941 | 18006506 | 25468996 | http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/9200 9200 HACD1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity | 3-hydroxyacyl-CoA dehydratase activity | hydroxyapatite binding | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0102158 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0046848 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 18554506 | 18554506 | 22067203 | 18554506 | 32296183,38422897 http://nanbyodata.jp/ontology/NANDO_1200483 NANDO:1200483 指定難病 Designated intractable disease 先天性筋線維タイプ不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/686 686 BTD protein binding | biotinidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047708 28514442,33961781 | http://nanbyodata.jp/ontology/NANDO_1200822 NANDO:1200822 指定難病 Designated intractable disease ビオチニダーゼ欠損症 Biotinidase deficiency MONDO:0009665 exactMatch http://glycosmos.org/glycogene/7390 7390 UROS folic acid binding | uroporphyrinogen-III synthase activity http://purl.obolibrary.org/obo/GO_0005542 | http://purl.obolibrary.org/obo/GO_0004852 | 18004775,3174619,3805019 http://nanbyodata.jp/ontology/NANDO_1200817 NANDO:1200817 指定難病 Designated intractable disease 先天性骨髄性ポルフィリン症 Congenital erythropoietic porphyria MONDO:0009902 exactMatch http://glycosmos.org/glycogene/7531 7531 YWHAE ubiquitin protein ligase binding | phosphoprotein binding | identical protein binding | RNA binding | signaling adaptor activity | transmembrane transporter binding | protein binding | histone deacetylase binding | scaffold protein binding | enzyme binding | calcium channel inhibitor activity | potassium channel regulator activity | calcium channel regulator activity | protein domain specific binding | protein phosphatase inhibitor activity | protein sequestering activity | MHC class II protein complex binding | phosphoserine residue binding | protein heterodimerization activity | protein phosphatase binding | cadherin binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_0005246 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0004864 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0050815 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0045296 19725078 | 10869435 | 17085597,20936779 | 22658674 | 22607805 | 11953308,18029012 | 10644344,11504882,11697890,11784866,12392720,1266503,12917326,14743216,15023544,15696159,15722337,16099986,16189514,16227609,16260042,16306228,16376338,16407301,16511560,16775625,17043677,17085597,17461779,17979178,18045992,18227151,18356162,18458160,18573912,19172738,19331823,19640509,19935711,20562859,20618440,20642453,20936779,21044950,21242966,21282530,21988832,22151054,22246185,22863774,23075850,23275563,23572552,23622247,23752268,24255178,24366813,24725412,24947832,24981860,25036637,25189701,25332407,25588844,25751139,25852190,25959826,26184334,26496610,27030597,27173435,27880917,28514442,28877994,29100370,29106533,29128334,29769719,30611118,31046837,31413325,31980649,32296183,32707033,32814053,33961781,35271311,36096339,36931259,37045861,39251607,7644510 | 10869435 | 10409742 | 10788521 | 18029012 | 11953308 | 18029012 | | | 22797923 | 20458337 | 10869435 | 11953308 | | 25468996 http://nanbyodata.jp/ontology/NANDO_1201083 NANDO:1201083 指定難病 Designated intractable disease ミラー・ディカー症候群 Miller Dieker syndrome MONDO:0009532 exactMatch http://glycosmos.org/glycogene/26235 26235 FBXL4 protein binding | ubiquitin ligase-substrate adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990756 32814053 | 38992176 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/779 779 CACNA1S protein binding | molecular function activator activity | high voltage-gated calcium channel activity | metal ion binding | voltage-gated calcium channel activity | small molecule binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005516 12080061,22153077,25416956,32296183 | 18761102,21525002 | 9852570 | | 28012042,9852570 | 18761102,21525002 | http://nanbyodata.jp/ontology/NANDO_1200503 NANDO:1200503 指定難病 Designated intractable disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/875 875 CBS pyridoxal phosphate binding | nitrite reductase (NO-forming) activity | S-adenosyl-L-methionine binding | metal ion binding | protein homodimerization activity | identical protein binding | carbon monoxide binding | modified amino acid binding | nitric oxide binding | oxygen binding | ubiquitin protein ligase binding | protein binding | cystathionine beta-synthase activity | enzyme binding | heme binding http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0050421 | http://purl.obolibrary.org/obo/GO_1904047 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070025 | http://purl.obolibrary.org/obo/GO_0072341 | http://purl.obolibrary.org/obo/GO_0070026 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004122 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0020037 18776696,7929220 | 24416422 | 22985361 | | 11483494 | 16189514,19447967,21900206,25416956,25502805,31515488 | 24515102 | 20031578 | 24416422,24515102 | 24515102 | 17087506 | 16189514,17087506,21653829,25416956,31515488,32296183,32814053 | 18776696,19010420,22985361,23981774,24416422,7929220 | 17087506 | 18776696,24515102,29410458,7929220 http://nanbyodata.jp/ontology/NANDO_1201039 NANDO:1201039 指定難病 Designated intractable disease ホモシスチン尿症I型 Homocystinuria type 1 MONDO:0009352 exactMatch http://glycosmos.org/glycogene/80704 80704 SLC19A3 thiamine transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015234 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200954 NANDO:1200954 指定難病 Designated intractable disease ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/144165 144165 PRICKLE1 protein-containing complex binding | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 14645515,16417580,16442230,17030191,18922795,18976727,25416956,25910212,32296183 | http://nanbyodata.jp/ontology/NANDO_1200954 NANDO:1200954 指定難病 Designated intractable disease ウンフェルリヒト・ルントボルグ病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/378884 378884 NHLRC1 zinc ion binding | protein binding | ubiquitin protein ligase activity | translation repressor activity | metal ion binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004842 | 15930137,17908927,21505799,22578008,22961547,33961781 | | | | 15930137,18070875 http://nanbyodata.jp/ontology/NANDO_1200955 NANDO:1200955 指定難病 Designated intractable disease ラフォラ病 Lafora disease MONDO:0009697 exactMatch http://glycosmos.org/glycogene/3077 3077 HFE peptide antigen binding | beta-2-microglobulin binding | co-receptor binding | transferrin receptor binding | signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030881 | http://purl.obolibrary.org/obo/GO_0039706 | http://purl.obolibrary.org/obo/GO_1990459 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 8696333,9546397 | 9465039,9546397,9990067 | 22728873 | 18353247,22728873,9465039,9546397,9990067 | 10638746,24904118 | 14691533,15880641,15965644,20133674,20618438,33961781 http://nanbyodata.jp/ontology/NANDO_1200814 NANDO:1200814 指定難病 Designated intractable disease 異型ポルフィリン症 Variegate porphyria MONDO:0008297 exactMatch http://glycosmos.org/glycogene/427 427 ASAH1 transcription corepressor activity | N-acylsphingosine amidohydrolase activity | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | nuclear receptor binding | fatty acid amide hydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0017040 | http://purl.obolibrary.org/obo/GO_0016811 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0017064 | http://purl.obolibrary.org/obo/GO_0005515 22927646 | 10610716,11451951,12764132,12815059,7744740 | 15655246 | 22927646 | | 22927646,32814053 http://nanbyodata.jp/ontology/NANDO_1200086 NANDO:1200086 指定難病 Designated intractable disease ファーバー病 Farber disease MONDO:0009218 exactMatch http://glycosmos.org/glycogene/445 445 ASS1 protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015643 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0004055 12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870 http://nanbyodata.jp/ontology/NANDO_1200805 NANDO:1200805 指定難病 Designated intractable disease 古典型シトルリン血症 Classic citrullinemia MONDO:0008988 exactMatch http://glycosmos.org/glycogene/5048 5048 PAFAH1B1 protein heterodimerization activity | dynein complex binding | phospholipase binding | microtubule binding | protein binding | identical protein binding | microtubule plus-end binding | phosphoprotein binding | dynactin binding | dynein intermediate chain binding | heparin binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0043274 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051010 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0034452 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008201 | 11889140 | 8028668 | 10729324 | 10931877,11163258,11940666,16754861,20133715,20360068,22159412,27173435,28514442,29961565,31413325,33961781,38547289 | | | | 11056532 | | 8028668 http://nanbyodata.jp/ontology/NANDO_1201083 NANDO:1201083 指定難病 Designated intractable disease ミラー・ディカー症候群 Miller Dieker syndrome MONDO:0009532 exactMatch http://glycosmos.org/glycogene/5160 5160 PDHA1 pyruvate dehydrogenase (acetyl-transferring) activity | protein binding | metal ion binding | pyruvate dehydrogenase (NAD+) activity http://purl.obolibrary.org/obo/GO_0004739 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0034604 19081061 | 12651851,19081061,29128334,29568061,33961781,35156780,36012204,7782287 | | http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/5213 5213 PFKM metal ion binding | monosaccharide binding | identical protein binding | fructose-6-phosphate binding | ATP binding | kinase binding | AMP binding | 6-phosphofructokinase activity | fructose binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0048029 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070095 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0003872 | http://purl.obolibrary.org/obo/GO_0070061 | http://purl.obolibrary.org/obo/GO_0005515 | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721 http://nanbyodata.jp/ontology/NANDO_1200829 NANDO:1200829 指定難病 Designated intractable disease 筋型糖原病VII型 Glycogen storage diseases type VII MONDO:0009295 exactMatch http://glycosmos.org/glycogene/5224 5224 PGAM2 bisphosphoglycerate mutase activity | identical protein binding | phosphoglycerate mutase activity | 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity | protein binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0004082 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004619 | http://purl.obolibrary.org/obo/GO_0046538 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016787 | 32296183 | 4827367,6262916 | | 28514442,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_1200832 NANDO:1200832 指定難病 Designated intractable disease 筋型糖原病X型 Glycogen storage diseases type X MONDO:0009865 exactMatch http://glycosmos.org/glycogene/5376 5376 PMP22 protein binding http://purl.obolibrary.org/obo/GO_0005515 12107182,14709540,25416956,25910212,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1200030 NANDO:1200030 指定難病 Designated intractable disease 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 closeMatch http://glycosmos.org/glycogene/5052 5052 PRDX1 cadherin binding | identical protein binding | thioredoxin peroxidase activity | protein binding | peroxidase activity | RNA binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008379 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0003723 25468996 | | 18606987 | 15105503,17909037,18172504,19369943,21044950,21969592,21988832,23386615,27607350,28671123,32814053,33961781 | 11986303 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1201040 NANDO:1201040 指定難病 Designated intractable disease ホモシスチン尿症II型 Homocystinuria type 2 MONDO:0010184 exactMatch http://glycosmos.org/glycogene/51422 51422 PRKAG2 protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase regulator activity | protein kinase regulator activity | ATP binding | phosphorylase kinase regulator activity | AMP binding | cAMP-dependent protein kinase inhibitor activity | AMP-activated protein kinase activity | ADP binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0008603 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008607 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0043531 10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279 http://nanbyodata.jp/ontology/NANDO_2200217 NANDO:2200217 小児慢性特定疾病 Specific pediatric chronic disease 上室頻拍 Supraventricular tachycardia due to WPW syndrome MONDO:0008685 exactMatch http://glycosmos.org/glycogene/51422 51422 PRKAG2 protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase regulator activity | protein kinase regulator activity | ATP binding | phosphorylase kinase regulator activity | AMP binding | cAMP-dependent protein kinase inhibitor activity | AMP-activated protein kinase activity | ADP binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0008603 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008607 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0043531 10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279 http://nanbyodata.jp/ontology/NANDO_2200229 NANDO:2200229 小児慢性特定疾病 Specific pediatric chronic disease 肥大型心筋症 Hypertrophic cardiomyopathy MONDO:0005045 exactMatch http://glycosmos.org/glycogene/5836 5836 PYGL protein binding | identical protein binding | AMP binding | purine nucleobase binding | SHG alpha-glucan phosphorylase activity | glycogen phosphorylase activity | maltodextrin phosphorylase activity | pyridoxal phosphate binding | ATP binding | glucose binding | linear malto-oligosaccharide phosphorylase activity | vitamin binding | bile acid binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0002060 | http://purl.obolibrary.org/obo/GO_0102499 | http://purl.obolibrary.org/obo/GO_0008184 | http://purl.obolibrary.org/obo/GO_0031220 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0102250 | http://purl.obolibrary.org/obo/GO_0019842 | http://purl.obolibrary.org/obo/GO_0032052 25416956,25910212,32296183,33961781 | 10980448 | 10949035,10980448 | 12204691 | | 10980448,17705025,22225877,9529348 | | | 10949035 | 10980448,12204691 | | 12204691 | 12204691 http://nanbyodata.jp/ontology/NANDO_1200846 NANDO:1200846 指定難病 Designated intractable disease 肝型糖原病VI型 Hepatic glycogen storage disease type VI MONDO:0009294 exactMatch http://glycosmos.org/glycogene/5837 5837 PYGM pyridoxal phosphate binding | glycogen phosphorylase activity | maltodextrin phosphorylase activity | linear malto-oligosaccharide phosphorylase activity | SHG alpha-glucan phosphorylase activity | protein binding | nucleotide binding http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0008184 | http://purl.obolibrary.org/obo/GO_0031220 | http://purl.obolibrary.org/obo/GO_0102250 | http://purl.obolibrary.org/obo/GO_0102499 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000166 | 1150650,8316268 | | | | 24722188,25416956,31515488,32296183,33961781,36217029 | http://nanbyodata.jp/ontology/NANDO_1200828 NANDO:1200828 指定難病 Designated intractable disease 筋型糖原病V型 Glycogen storage diseases type V MONDO:0009293 exactMatch http://glycosmos.org/glycogene/6261 6261 RYR1 voltage-gated calcium channel activity | calcium-induced calcium release activity | calcium ion binding | ryanodine-sensitive calcium-release channel activity | calmodulin binding | ATP binding | calcium channel activity | calcium-release channel activity http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005219 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0015278 | 26115329 | | 10026226,11741831,16163667,19095005,22480578,26115329 | | | | 9030597 http://nanbyodata.jp/ontology/NANDO_1200479 NANDO:1200479 指定難病 Designated intractable disease セントラルコア病 Central core disease MONDO:0007294 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_1200501 NANDO:1200501 指定難病 Designated intractable disease 先天性パラミオトニー Paramyotonia congenita MONDO:0008195 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_1200503 NANDO:1200503 指定難病 Designated intractable disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_1200504 NANDO:1200504 指定難病 Designated intractable disease 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis MONDO:0008224 exactMatch http://glycosmos.org/glycogene/6331 6331 SCN5A fibroblast growth factor binding | nitric-oxide synthase binding | calmodulin binding | voltage-gated sodium channel activity involved in cardiac muscle cell action potential | scaffold protein binding | voltage-gated sodium channel activity involved in Purkinje myocyte action potential | enzyme binding | transmembrane transporter binding | protein kinase binding | voltage-gated sodium channel activity involved in bundle of His cell action potential | ankyrin binding | protein domain specific binding | protein binding | voltage-gated sodium channel activity | voltage-gated sodium channel activity involved in SA node cell action potential | voltage-gated sodium channel activity involved in AV node cell action potential | ubiquitin protein ligase binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086006 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0086062 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0086061 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0086063 | http://purl.obolibrary.org/obo/GO_0086060 | http://purl.obolibrary.org/obo/GO_0031625 12401812 | 18591664 | 21167176 | 18065446,18616619,19808477,21895525,22529811 | 17060380 | 22766342 | 19666841 | 20042427,24998131 | 22514276 | 18065446 | 15579534 | 19943616 | 16728661,16930557,17592081,18184654,18591664,19943616,22514276,22705208,26392562,32296183 | 14500339,17592081,19074138,19943616,21895525,22514276,23085483,26279430,26392562 | 18616619 | 18616619 | 15217910 http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/6389 6389 SDHA flavin adenine dinucleotide binding | succinate dehydrogenase (ubiquinone) activity | electron transfer activity | protein binding http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0008177 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515 | 24781757,7550341 | | 15961414,19628817,19688755,23747254,24606901,26496610,26618866,26749241,28330616,28514442,29924966,31324722,33961781,35156780 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/8910 8910 SGCE "" "" "" http://nanbyodata.jp/ontology/NANDO_1200522 NANDO:1200522 指定難病 Designated intractable disease DYT11ジストニア Dystonia 11 MONDO:0000903 exactMatch http://glycosmos.org/glycogene/6469 6469 SHH morphogen activity | cholesterol-protein transferase activity | calcium ion binding | zinc ion binding | patched binding | glycosaminoglycan binding | peptidase activity | protein binding | laminin-1 binding | endopeptidase activity http://purl.obolibrary.org/obo/GO_0016015 | http://purl.obolibrary.org/obo/GO_0140853 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005113 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043237 | http://purl.obolibrary.org/obo/GO_0004175 24431302,8647801 | | 19561609 | 19561609 | 11472839,8906787 | | | 19561609,29954986,29995851,30139912 | | http://nanbyodata.jp/ontology/NANDO_1201073 NANDO:1201073 指定難病 Designated intractable disease 裂脳症 Schizencephaly MONDO:0010011 exactMatch http://glycosmos.org/glycogene/6559 6559 SLC12A3 ATP binding | sodium:potassium:chloride symporter activity | sodium:chloride symporter activity | protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008511 | http://purl.obolibrary.org/obo/GO_0015378 | http://purl.obolibrary.org/obo/GO_0005515 | | 18270262,36351028,36792826 | 22406640 http://nanbyodata.jp/ontology/NANDO_2200145 NANDO:2200145 小児慢性特定疾病 Specific pediatric chronic disease ギッテルマン症候群 Gitelman syndrome MONDO:0009904 exactMatch http://glycosmos.org/glycogene/6584 6584 SLC22A5 PDZ domain binding | xenobiotic transmembrane transporter activity | ATP binding | symporter activity | (R)-carnitine transmembrane transporter activity | quaternary ammonium group transmembrane transporter activity | protein binding | amino-acid betaine transmembrane transporter activity | carnitine transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0015293 | http://purl.obolibrary.org/obo/GO_1901235 | http://purl.obolibrary.org/obo/GO_0015651 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015199 | http://purl.obolibrary.org/obo/GO_0015226 15523054 | 15238359 | | | 17509700,20722056,23877104,33334877 | 10454528,10966938,23567998,9618255 | 15523054,28514442,32296183,33961781 | 33124720 | 10454528,10966938,17855766,9685390,9916797 http://nanbyodata.jp/ontology/NANDO_1200973 NANDO:1200973 指定難病 Designated intractable disease カルニチントランスポーター欠損症 Systemic primary carnitine deficiency MONDO:0008919 exactMatch http://glycosmos.org/glycogene/8803 8803 SUCLA2 succinate-CoA ligase (ADP-forming) activity | ATP binding | magnesium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0004775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005515 10727444 | | | 10727444,14643893,26871637,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/56999 56999 ADAMTS9 metallopeptidase activity | zinc ion binding | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 12514189 | | http://nanbyodata.jp/ontology/NANDO_2200140 NANDO:2200140 小児慢性特定疾病 Specific pediatric chronic disease ネフロン癆 Nephronophthisis MONDO:0009728 closeMatch http://glycosmos.org/glycogene/326625 326625 MMAB transferase activity, transferring alkyl or aryl (other than methyl) groups | protein binding | cobalamin binding | ATP binding | corrinoid adenosyltransferase activity http://purl.obolibrary.org/obo/GO_0016765 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031419 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008817 12514191 | 25910212,32814053,33961781 | 28497574 | | 12514191,15913339,30282455,33797888 http://nanbyodata.jp/ontology/NANDO_1200796 NANDO:1200796 指定難病 Designated intractable disease コバラミン代謝異常 cblB Methylmalonic acidemia cblB type MONDO:0009614 exactMatch http://glycosmos.org/glycogene/282996 282996 RBM20 splicing factor binding | pre-mRNA intronic binding | zinc ion binding | RNA binding | protein binding | mRNA binding http://purl.obolibrary.org/obo/GO_1990935 | http://purl.obolibrary.org/obo/GO_0097157 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003729 24960161 | 24960161,34732726 | | | 32296183 | http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/91942 91942 NDUFAF2 protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 16200211 | 32296183,33961781,34819669,38949024 http://nanbyodata.jp/ontology/NANDO_1200175 NANDO:1200175 指定難病 Designated intractable disease リー脳症 Leigh's encephalomyelopathy MONDO:0009723 exactMatch http://glycosmos.org/glycogene/8291 8291 DYSF calcium ion binding | calcium-dependent phospholipid binding | protein binding | phospholipid binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005544 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005543 24239457 | 11959863 | 17185750,23414517,24687993,32296183 | 24239457 http://nanbyodata.jp/ontology/NANDO_1200217 NANDO:1200217 指定難病 Designated intractable disease 三好型ミオパチー Miyoshi myopathy MONDO:0009685 exactMatch http://glycosmos.org/glycogene/4000 4000 LMNA structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 3453101,8344919 | 25910212 | 10381623,10514485,10727209,11313760,11587540,11801724,14597414,15140953,15161933,15671068,16247757,19323649,19933576,20000738,20467437,20580717,20618440,21346760,21418524,21949239,21988832,21993218,22399800,22555292,23539603,23658700,23977161,24375709,24981860,25399868,25416956,25910212,26524528,29568061,29997244,30021884,30488537,31467278,31515488,31548606,32296183,32814053,33961781,35271311,35311970,37398436 | 2188730,2344612,24741066,37788673,37832547 | http://nanbyodata.jp/ontology/NANDO_2200232 NANDO:2200232 小児慢性特定疾病 Specific pediatric chronic disease 拡張型心筋症 Dilated cardiomyopathy MONDO:0005021 exactMatch http://glycosmos.org/glycogene/4069 4069 LYZ identical protein binding | lysozyme activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003796 23353684 | 2829884 http://nanbyodata.jp/ontology/NANDO_2200138 NANDO:2200138 小児慢性特定疾病 Specific pediatric chronic disease アミロイド腎 Amyloid nephropathy MONDO:0007099 closeMatch http://glycosmos.org/glycogene/8106 8106 PABPN1 RNA binding | protein binding | RNA polymerase binding | poly(A) binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0008143 22658674,22681889 | 11371506,15169763,19515850,20467437,23665581,23788676,27871484 | | http://nanbyodata.jp/ontology/NANDO_1200493 NANDO:1200493 指定難病 Designated intractable disease 眼咽頭筋型筋ジストロフィー Oculopharyngeal muscular dystrophy MONDO:0008116 exactMatch http://glycosmos.org/glycogene/51524 51524 TMEM138 "" "" "" http://nanbyodata.jp/ontology/NANDO_1200662 NANDO:1200662 指定難病 Designated intractable disease 有馬症候群 Arima syndrome MONDO:0009480 exactMatch http://glycosmos.org/glycogene/7957 7957 EPM2A histone H2AXY142 phosphatase activity | RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity | carbohydrate phosphatase activity | starch binding | protein serine/threonine phosphatase activity | protein tyrosine phosphatase activity | glycogen binding | glycogen (starch) synthase activity | carbohydrate binding | RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity | protein tyrosine phosphatase activity, metal-dependent | phosphatase activity | calmodulin-dependent protein phosphatase activity | protein homodimerization activity | protein binding | RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity | RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity | MAP kinase serine/threonine phosphatase activity | histone H2AXS140 phosphatase activity | myosin phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | protein dimerization activity | RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0180006 | http://purl.obolibrary.org/obo/GO_0019203 | http://purl.obolibrary.org/obo/GO_2001070 | http://purl.obolibrary.org/obo/GO_0004722 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_2001069 | http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0180007 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0033192 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0180008 | http://purl.obolibrary.org/obo/GO_0180004 | http://purl.obolibrary.org/obo/GO_1990439 | http://purl.obolibrary.org/obo/GO_0140791 | http://purl.obolibrary.org/obo/GO_0017018 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0180005 | | 16901901,25538239 | | 12915448 | 11001928,11739371,12915448 | 11739371,18617530,25544560 | | 25538239 | | | 18617530 | | 18617530,25538239,25544560 | 12915448,14532330,15930137,18070875,18617530,21505799,22961547,24837458,25538239,25544560,32814053,33961781 | | | | | | | 18617530 | http://nanbyodata.jp/ontology/NANDO_1200955 NANDO:1200955 指定難病 Designated intractable disease ラフォラ病 Lafora disease MONDO:0009697 exactMatch http://glycosmos.org/glycogene/567 567 B2M identical protein binding | MHC class II protein complex binding | peptide antigen binding | structural molecule activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 17108084,18579777,19172750,19564620,20826442,21131979,21220305,21569201,22289140,22575645 | | | 36104323 | 12118248,12833155,14764708,15723809,15965644,18802093,20164429,20618438,23051753,23527218,26030842,27043408,28514442,32814053,33961781,9427624,9465039,9546397,9990067 | 28468825 http://nanbyodata.jp/ontology/NANDO_2200138 NANDO:2200138 小児慢性特定疾病 Specific pediatric chronic disease アミロイド腎 Amyloid nephropathy MONDO:0007099 closeMatch http://glycosmos.org/glycogene/10165 10165 SLC25A13 3-sulfino-L-alanine: proton, glutamate antiporter activity | identical protein binding | protein binding | calcium ion binding | L-glutamate transmembrane transporter activity | aspartate:glutamate, proton antiporter activity | L-aspartate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0000514 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005313 | http://purl.obolibrary.org/obo/GO_0000515 | http://purl.obolibrary.org/obo/GO_0015183 11566871 | 25410934 | 28514442,33961781 | 10642534,25410934 | | 11566871 | http://nanbyodata.jp/ontology/NANDO_1200979 NANDO:1200979 指定難病 Designated intractable disease 新生児肝内胆汁うっ滞症 Neonatal intrahepatic cholestasis caused by citrin deficiency MONDO:0011601 exactMatch http://glycosmos.org/glycogene/10165 10165 SLC25A13 3-sulfino-L-alanine: proton, glutamate antiporter activity | identical protein binding | protein binding | calcium ion binding | L-glutamate transmembrane transporter activity | aspartate:glutamate, proton antiporter activity | L-aspartate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0000514 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005313 | http://purl.obolibrary.org/obo/GO_0000515 | http://purl.obolibrary.org/obo/GO_0015183 11566871 | 25410934 | 28514442,33961781 | 10642534,25410934 | | 11566871 | http://nanbyodata.jp/ontology/NANDO_1200980 NANDO:1200980 指定難病 Designated intractable disease 成人発症II型シトルリン血症 Adult-onset type II citrullinemia MONDO:0016603 exactMatch http://glycosmos.org/glycogene/10345 10345 TRDN protein-macromolecule adaptor activity | protein binding | transmembrane transporter binding | signaling receptor binding http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005102 | 17526652,32296183 | | http://nanbyodata.jp/ontology/NANDO_2200216 NANDO:2200216 小児慢性特定疾病 Specific pediatric chronic disease 多源性心室期外収縮 Polymorphic ventricular premature beat MONDO:0017990 closeMatch http://glycosmos.org/glycogene/10345 10345 TRDN protein-macromolecule adaptor activity | protein binding | transmembrane transporter binding | signaling receptor binding http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005102 | 17526652,32296183 | | http://nanbyodata.jp/ontology/NANDO_2200221 NANDO:2200221 小児慢性特定疾病 Specific pediatric chronic disease カテコラミン誘発多形性心室頻拍 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 exactMatch http://glycosmos.org/glycogene/10345 10345 TRDN protein-macromolecule adaptor activity | protein binding | transmembrane transporter binding | signaling receptor binding http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005102 | 17526652,32296183 | | http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/63976 63976 PRDM16 DNA-binding transcription repressor activity, RNA polymerase II-specific | histone H3K9 methyltransferase activity | transcription coregulator activity | transcription cis-regulatory region binding | histone H3 methyltransferase activity | zinc ion binding | DNA-binding transcription activator activity, RNA polymerase II-specific | histone H3K9me2 methyltransferase activity | sequence-specific DNA binding | transcription coactivator activity | histone H3K9 monomethyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | metal ion binding | protein binding | DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 12816872 | | | 12816872 | | | | | 12816872 | | | | | 19049980,21516122,30462309 | 25578880 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_2200266 NANDO:2200266 小児慢性特定疾病 Specific pediatric chronic disease 二次孔型心房中隔欠損症 Atrial septal defect, ostium secundum type MONDO:0020434 exactMatch http://glycosmos.org/glycogene/10564 10564 ARFGEF2 myosin binding | protein kinase A regulatory subunit binding | guanyl-nucleotide exchange factor activity | protein binding | GABA receptor binding http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050811 | 12571360 | 10212200,15385626 | 10716990,15705715,16866877,19332778,22084092,33961781,35271311 | http://nanbyodata.jp/ontology/NANDO_1201079 NANDO:1201079 指定難病 Designated intractable disease 脳室周囲結節状異所性灰白質 Periventricular nodular heterotopia MONDO:0020341 exactMatch http://glycosmos.org/glycogene/10382 10382 TUBB4A GTP binding | protein binding | structural constituent of cytoskeleton | calcium ion binding | GTPase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003924 | 20195357,24275654,31046837 | | 10211825 | http://nanbyodata.jp/ontology/NANDO_1200578 NANDO:1200578 指定難病 Designated intractable disease 基底核および小脳萎縮を伴う髄鞘形成不全症 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 exactMatch http://glycosmos.org/glycogene/161582 161582 DNAAF4 protein binding | nuclear estrogen receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331 19423554,20562859,23872636,25416956,26871637,28041644,29601588,32296183 | 19423554 http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/1287 1287 COL4A5 protein binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 32296183,32814053 | 28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2200126 NANDO:2200126 小児慢性特定疾病 Specific pediatric chronic disease 慢性糸球体腎炎（アルポート 症候群によるものに限る。） Alport syndrome MONDO:0018965 exactMatch http://glycosmos.org/glycogene/1356 1356 CP copper ion binding | protein-folding chaperone binding | glutathione peroxidase activity | phospholipid-hydroperoxide glutathione peroxidase activity | oxidoreductase activity, acting on metal ions, oxygen as acceptor | oxidoreductase activity | ferroxidase activity http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0004602 | http://purl.obolibrary.org/obo/GO_0047066 | http://purl.obolibrary.org/obo/GO_0016724 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0004322 | 19996109 | 10481051,10508415 | 10481051,10508415 | 14623105 | | 14623105,16150804,29183916 http://nanbyodata.jp/ontology/NANDO_1200540 NANDO:1200540 指定難病 Designated intractable disease 脳内鉄沈着神経変性症4型 Neurodegeneration with brain iron accumulation type 4 MONDO:0011426 closeMatch http://glycosmos.org/glycogene/1376 1376 CPT2 carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004095 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0008458 | http://purl.obolibrary.org/obo/GO_0005515 1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200971 NANDO:1200971 指定難病 Designated intractable disease カルニチンパルミトイルトランスフェラーゼII欠損症 Carnitine palmitoyltransferase II deficiency MONDO:0015515 exactMatch http://glycosmos.org/glycogene/22854 22854 NTNG1 cell-cell adhesion mediator activity | protein binding | cell adhesion molecule binding http://purl.obolibrary.org/obo/GO_0098632 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050839 23986473 | 14595443,21946559,33961781 | 23986473 http://nanbyodata.jp/ontology/NANDO_1200605 NANDO:1200605 指定難病 Designated intractable disease 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 exactMatch http://glycosmos.org/glycogene/10020 10020 GNE N-acylmannosamine kinase activity | hydrolase activity, hydrolyzing O-glycosyl compounds | UDP-N-acetylglucosamine 2-epimerase activity | ATP binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0009384 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0008761 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 14707127 | | 14707127,26980148,2808337 | | | 18560563,25416956,31515488,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_1200218 NANDO:1200218 指定難病 Designated intractable disease 縁取り空胞を伴う遠位型ミオパチー Distal myopathy with rimmed vacuoles MONDO:0011603 exactMatch http://glycosmos.org/glycogene/1438 1438 CSF2RA signaling receptor activity | growth hormone receptor activity | cytokine receptor activity | protein binding | peptide hormone binding | cytokine binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004903 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0019955 1358805 | | | 25416956 | | http://nanbyodata.jp/ontology/NANDO_2200200 NANDO:2200200 小児慢性特定疾病 Specific pediatric chronic disease 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 exactMatch http://glycosmos.org/glycogene/1439 1439 CSF2RB interleukin-3 receptor activity | cytokine receptor activity | signaling receptor activity | interleukin-5 receptor activity | protein binding | coreceptor activity http://purl.obolibrary.org/obo/GO_0004912 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004914 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015026 9410898 | | 9410898 | 9410898 | 1495999,16437163,17828305,18692472,20802515,29374162,9516124 | 7957082,8649415 http://nanbyodata.jp/ontology/NANDO_2200200 NANDO:2200200 小児慢性特定疾病 Specific pediatric chronic disease 先天性肺胞蛋白症 Congenital alveolar proteinosis MONDO:0012580 exactMatch http://glycosmos.org/glycogene/1501 1501 CTNND2 cadherin binding | protein binding | beta-catenin binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013 | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484 http://nanbyodata.jp/ontology/NANDO_1200956 NANDO:1200956 指定難病 Designated intractable disease 良性成人型家族性ミオクローヌスてんかん Benign adult familial myoclonus epilepsy MONDO:0019448 exactMatch http://glycosmos.org/glycogene/220296 220296 HEPACAM "" "" "" http://nanbyodata.jp/ontology/NANDO_1200950 NANDO:1200950 指定難病 Designated intractable disease 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 exactMatch http://glycosmos.org/glycogene/22897 22897 CEP164 protein binding http://purl.obolibrary.org/obo/GO_0005515 22863007,23530209,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1201049 NANDO:1201049 指定難病 Designated intractable disease セニオール・ローケン症候群 Senior-Loken syndrome MONDO:0017842 exactMatch http://glycosmos.org/glycogene/1767 1767 DNAH5 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0051959 | | | | http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/1770 1770 DNAH9 dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 30471718 http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/1829 1829 DSG2 cell adhesion molecule binding | protein binding | calcium ion binding | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0086083 17559062 | 11790773,29910125 | | 16505173 http://nanbyodata.jp/ontology/NANDO_2200230 NANDO:2200230 小児慢性特定疾病 Specific pediatric chronic disease 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 exactMatch http://glycosmos.org/glycogene/1837 1837 DTNA PDZ domain binding | zinc ion binding | protein binding http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | | 10767429,11353857,19931615,21115837,33961781,35271311,9356463 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/200373 200373 CFAP221 calmodulin binding http://purl.obolibrary.org/obo/GO_0005516 "" http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/10142 10142 AKAP9 protein kinase A regulatory subunit binding | DNA binding | signaling receptor binding | molecular adaptor activity | protein binding | transmembrane transporter binding | potassium channel activator activity | potassium channel regulator activity http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0099104 | http://purl.obolibrary.org/obo/GO_0015459 17911601,21502359 | | 9482789 | 11799244,27666745 | 12163479,16980960,18772391,19242490,20466722,23455924,25416956,27666745,28089391,28514442,29162697,29961565,31413325,32353859,32814053,33060197,33961781,36217030 | 11799244,16002409,18093912 | 18093912 | 16002409 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/3728 3728 JUP cadherin binding | nuclear receptor binding | protein phosphatase binding | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication | transcription coactivator activity | alpha-catenin binding | cell adhesion molecule binding | protein homodimerization activity | protein binding | structural molecule activity | cytoskeletal protein-membrane anchor activity http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0086083 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0106006 1639850,25468996,7650039 | | 8663237 | 17924338 | 14661054 | 23136403,7650039,7890674 | 17559062 | | 10801826,11790773,12370829,14661054,16189514,16917092,17098867,17924338,19060904,19136012,20859650,20936779,24658140,24965446,25241761,25416956,26496610,26871637,28514442,31515488,31980649,32296183,33961781,35384245,39251607,7650039,7890674,7983064 | 22889254 | 9049256 http://nanbyodata.jp/ontology/NANDO_2200230 NANDO:2200230 小児慢性特定疾病 Specific pediatric chronic disease 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 exactMatch http://glycosmos.org/glycogene/3753 3753 KCNE1 telethonin binding | protein binding | transmembrane transporter binding | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | protein-containing complex binding | voltage-gated potassium channel activity | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | potassium channel regulator activity http://purl.obolibrary.org/obo/GO_0031433 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0086008 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0015459 11697903 | 11101505,11697903,19521339,20196769,20533308,25037568,9230439 | | 10400998 | 10400998,11299204,12522251,19646991,24269949,8900283,9354802 | | 17289006,9230439 | 9354802 | 10400998,11220365,12522251,19219384,8900283 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/3757 3757 KCNH2 voltage-gated potassium channel activity | transcription cis-regulatory region binding | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | protein homodimerization activity | ubiquitin protein ligase binding | inward rectifier potassium channel activity | protein binding | scaffold protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005242 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0042802 11953308,21063088,28280240 | 31146003 | 21536673 | 25281747,7736582 | 8995352 | 21463633 | 10790218,12063277,14525949,18559421,19412172,26363003,7604285,8587608,9230439,9351446,9765245 | 11953308,16361248,18923542,25281747,26363003,32296183,9230439 | 18923542 | 24931372,8995352 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/3762 3762 KCNJ5 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | inward rectifier potassium channel activity | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | G-protein activated inward rectifier potassium channel activity | protein binding http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0005242 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015467 | http://purl.obolibrary.org/obo/GO_0005515 20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/3784 3784 KCNQ1 transmembrane transporter binding | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | protein kinase A regulatory subunit binding | protein binding | protein kinase A catalytic subunit binding | calmodulin binding | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | outward rectifier potassium channel activity | voltage-gated potassium channel activity | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | phosphatidylinositol-4,5-bisphosphate binding | scaffold protein binding | protein phosphatase 1 binding http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0086008 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0008157 11101505,20196769,24855057,25037568 | 8528244 | 11799244 | 12324418,19521339,19687231,20533308,22024150,23529131,24595108 | 11799244 | 18165683 | 12522251,25786344 | 11101505,25705178,9312006 | 12324418,16002409,17289006,24595108,24855057,8900283,9305853 | 12522251 | 10400998,11299204,12522251,19646991,24184248,24269949,25037568,8900283,9354802 | 25037568 | 11799244,16002409,18093912 | 11799244 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/3920 3920 LAMP2 signaling adaptor activity | ion channel inhibitor activity | enzyme binding | protein domain specific binding | protein binding http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0008200 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 36586411 | 37390818 | 22641697 | | 20797626,21194361,26212789,28514442,32814053,36481789,37390818 http://nanbyodata.jp/ontology/NANDO_1200222 NANDO:1200222 指定難病 Designated intractable disease ダノン病 Danon disease MONDO:0010281 exactMatch http://glycosmos.org/glycogene/3939 3939 LDHA cadherin binding | identical protein binding | L-lactate dehydrogenase activity | protein binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004459 | http://purl.obolibrary.org/obo/GO_0005515 25468996 | 21988832,25502805,31515488,34381247 | 1953713,34381247 | 21988832,23523103,25416956,25910212,28514442,31515488,32296183,33406399,33961781,34381247,35271311 http://nanbyodata.jp/ontology/NANDO_1200833 NANDO:1200833 指定難病 Designated intractable disease 筋型糖原病XI型 Glycogen storage diseases type XI MONDO:0013047 exactMatch http://glycosmos.org/glycogene/6792 6792 CDKL5 cyclin-dependent protein serine/threonine kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | small GTPase binding | kinase activity | ATP binding | protein kinase activity http://purl.obolibrary.org/obo/GO_0004693 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860 http://nanbyodata.jp/ontology/NANDO_1200605 NANDO:1200605 指定難病 Designated intractable disease 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 exactMatch http://glycosmos.org/glycogene/4131 4131 MAP1B protein-containing complex binding | protein binding | microtubule binding | phospholipid binding | structural molecule activity | actin binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0003779 | 12147674,15525354,18656471,24089205,24614691,24754922,25902260 | 26609151 | | 1881920 | http://nanbyodata.jp/ontology/NANDO_1201079 NANDO:1201079 指定難病 Designated intractable disease 脳室周囲結節状異所性灰白質 Periventricular nodular heterotopia MONDO:0020341 exactMatch http://glycosmos.org/glycogene/6812 6812 STXBP1 protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043274 | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_1200605 NANDO:1200605 指定難病 Designated intractable disease 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 exactMatch http://glycosmos.org/glycogene/11155 11155 LDB3 protein binding | muscle alpha-actinin binding | protein kinase C binding | actin binding | metal ion binding | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051371 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008092 10427098 | | | | | 17987659 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/6900 6900 CNTN2 cell-cell adhesion mediator activity | carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0098632 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | | 32814053 http://nanbyodata.jp/ontology/NANDO_1200956 NANDO:1200956 指定難病 Designated intractable disease 良性成人型家族性ミオクローヌスてんかん Benign adult familial myoclonus epilepsy MONDO:0019448 exactMatch http://glycosmos.org/glycogene/25978 25978 CHMP2B protein binding | protein domain specific binding | cadherin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0045296 16730941,17683935,17928862,21044950,21975012,22046132,23051622,26496610 | 17928862 | 25468996 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/25978 25978 CHMP2B protein binding | protein domain specific binding | cadherin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0045296 16730941,17683935,17928862,21044950,21975012,22046132,23051622,26496610 | 17928862 | 25468996 http://nanbyodata.jp/ontology/NANDO_1200550 NANDO:1200550 指定難病 Designated intractable disease 意味性認知症 Semantic dementia MONDO:0010857 exactMatch http://glycosmos.org/glycogene/115399 115399 LRRC56 protein binding http://purl.obolibrary.org/obo/GO_0005515 30388400,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/25981 25981 DNAH1 ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0051959 | 9373155 | | | http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/11128 11128 POLR3A zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial single subunit type RNA polymerase activity | magnesium ion binding | DNA binding | RNA polymerase IV activity | RNA polymerase I activity | chromatin binding | RNA polymerase II activity | RNA polymerase III activity | DNA/RNA hybrid binding | plastid single subunit type RNA polymerase activity | DNA-directed 5'-3' RNA polymerase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001058 | http://purl.obolibrary.org/obo/GO_0001065 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001057 | http://purl.obolibrary.org/obo/GO_0001054 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0001055 | http://purl.obolibrary.org/obo/GO_0001056 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0001066 | http://purl.obolibrary.org/obo/GO_0003899 34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371 http://nanbyodata.jp/ontology/NANDO_1200583 NANDO:1200583 指定難病 Designated intractable disease 小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 exactMatch http://glycosmos.org/glycogene/11128 11128 POLR3A zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial single subunit type RNA polymerase activity | magnesium ion binding | DNA binding | RNA polymerase IV activity | RNA polymerase I activity | chromatin binding | RNA polymerase II activity | RNA polymerase III activity | DNA/RNA hybrid binding | plastid single subunit type RNA polymerase activity | DNA-directed 5'-3' RNA polymerase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001058 | http://purl.obolibrary.org/obo/GO_0001065 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001057 | http://purl.obolibrary.org/obo/GO_0001054 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0001055 | http://purl.obolibrary.org/obo/GO_0001056 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0001066 | http://purl.obolibrary.org/obo/GO_0003899 34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371 http://nanbyodata.jp/ontology/NANDO_1200585 NANDO:1200585 指定難病 Designated intractable disease 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 exactMatch http://glycosmos.org/glycogene/2027 2027 ENO3 magnesium ion binding | protein binding | phosphopyruvate hydratase activity http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004634 | 33961781,35271311 | http://nanbyodata.jp/ontology/NANDO_1200835 NANDO:1200835 指定難病 Designated intractable disease 筋型糖原病XIII型 Glycogen storage diseases type XIII MONDO:0013046 exactMatch http://glycosmos.org/glycogene/2475 2475 MTOR histone H3S28 kinase activity | RNA polymerase III type 3 promoter sequence-specific DNA binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S10 kinase activity | protein tyrosine kinase activity | histone H3T45 kinase activity | protein binding | histone H3T11 kinase activity | identical protein binding | DNA-dependent protein kinase activity | AMP-activated protein kinase activity | histone H2AS1 kinase activity | histone H2AT120 kinase activity | RNA polymerase III type 1 promoter sequence-specific DNA binding | ribosome binding | histone H3S57 kinase activity | RNA polymerase III type 2 promoter sequence-specific DNA binding | histone H2BS14 kinase activity | ATP binding | ribosomal protein S6 kinase activity | histone H3T3 kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | phosphoprotein binding | 3-phosphoinositide-dependent protein kinase activity | protein serine kinase activity | Rho-dependent protein serine/threonine kinase activity | TFIIIC-class transcription factor complex binding | inositol hexakisphosphate binding | protein kinase activity | histone H3T6 kinase activity | histone H4S1 kinase activity | histone H2AXS139 kinase activity | kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0001006 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0001002 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0001003 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0001156 | http://purl.obolibrary.org/obo/GO_0000822 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0016301 | 20233713 | | | 26584640 | | 10089303,11438723,12150925,12150926,12408816,15161933,15467718,16915281,17148612,17461779,17565979,18339839,18550814,18566587,18955708,19446321,19619545,19875983,20080789,20543138,20562859,20864032,21045808,21376236,21471201,21614075,22307628,22343943,22424946,22576015,22664266,22692423,23027611,23263282,23394946,23524951,23636326,23953116,24036451,24375676,24670654,25241761,25446900,25657994,25686248,26348909,26593251,26678875,26787466,27043084,29125601,29750193,29997244,30704899,30956113,32647003,33106485,33378666,33452816,33961781,35271311,35561222,36931259 | | 11438723,24670654 | | | | | 20233713 | 21376236 | | 20233713 | | | | | | 12087098,12718876,15467718,17517883,18372248,18925875,20022946,20537536,22017875,22017876,22017877,22343943,22576015,22692423,22768106,23426360,23524951,24403073,24448649,24670654,29236692,29424687,29567957,29750193,30704899,31695197,32561715,32612235,33110214,35662396,36608670,36691768 | | 11853878 | | | | 20543138 | 33158864 | 12150926 | | | | http://nanbyodata.jp/ontology/NANDO_1200568 NANDO:1200568 指定難病 Designated intractable disease 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 exactMatch http://glycosmos.org/glycogene/2475 2475 MTOR histone H3S28 kinase activity | RNA polymerase III type 3 promoter sequence-specific DNA binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S10 kinase activity | protein tyrosine kinase activity | histone H3T45 kinase activity | protein binding | histone H3T11 kinase activity | identical protein binding | DNA-dependent protein kinase activity | AMP-activated protein kinase activity | histone H2AS1 kinase activity | histone H2AT120 kinase activity | RNA polymerase III type 1 promoter sequence-specific DNA binding | ribosome binding | histone H3S57 kinase activity | RNA polymerase III type 2 promoter sequence-specific DNA binding | histone H2BS14 kinase activity | ATP binding | ribosomal protein S6 kinase activity | histone H3T3 kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | phosphoprotein binding | 3-phosphoinositide-dependent protein kinase activity | protein serine kinase activity | Rho-dependent protein serine/threonine kinase activity | TFIIIC-class transcription factor complex binding | inositol hexakisphosphate binding | protein kinase activity | histone H3T6 kinase activity | histone H4S1 kinase activity | histone H2AXS139 kinase activity | kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0001006 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0001002 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0001003 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0001156 | http://purl.obolibrary.org/obo/GO_0000822 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0016301 | 20233713 | | | 26584640 | | 10089303,11438723,12150925,12150926,12408816,15161933,15467718,16915281,17148612,17461779,17565979,18339839,18550814,18566587,18955708,19446321,19619545,19875983,20080789,20543138,20562859,20864032,21045808,21376236,21471201,21614075,22307628,22343943,22424946,22576015,22664266,22692423,23027611,23263282,23394946,23524951,23636326,23953116,24036451,24375676,24670654,25241761,25446900,25657994,25686248,26348909,26593251,26678875,26787466,27043084,29125601,29750193,29997244,30704899,30956113,32647003,33106485,33378666,33452816,33961781,35271311,35561222,36931259 | | 11438723,24670654 | | | | | 20233713 | 21376236 | | 20233713 | | | | | | 12087098,12718876,15467718,17517883,18372248,18925875,20022946,20537536,22017875,22017876,22017877,22343943,22576015,22692423,22768106,23426360,23524951,24403073,24448649,24670654,29236692,29424687,29567957,29750193,30704899,31695197,32561715,32612235,33110214,35662396,36608670,36691768 | | 11853878 | | | | 20543138 | 33158864 | 12150926 | | | | http://nanbyodata.jp/ontology/NANDO_1200569 NANDO:1200569 指定難病 Designated intractable disease 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 exactMatch http://glycosmos.org/glycogene/2626 2626 GATA4 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | sequence-specific double-stranded DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | NFAT protein binding | DNA-binding transcription factor activity | DNA-binding transcription activator activity | DNA binding | transcription cis-regulatory region binding | protein kinase binding | zinc ion binding | co-SMAD binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0051525 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0070410 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0043565 10075728,12845333,15485867,16199874,17053787,21220346,24000169,35182466,9312027 | 21330551,9858576 | 28473536 | 21330551 | | 9312027 | 29325903 | 24000169 | 9566909 | | | 21330551 | 21220346 | | 21220346,21330551 | http://nanbyodata.jp/ontology/NANDO_2200266 NANDO:2200266 小児慢性特定疾病 Specific pediatric chronic disease 二次孔型心房中隔欠損症 Atrial septal defect, ostium secundum type MONDO:0020434 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_1200056 NANDO:1200056 指定難病 Designated intractable disease ゴーシェ病 Gaucher disease MONDO:0018150 exactMatch http://glycosmos.org/glycogene/2653 2653 GCSH protein binding | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004047 16189514,32296183 | 3348809 http://nanbyodata.jp/ontology/NANDO_1200985 NANDO:1200985 指定難病 Designated intractable disease 新生児型非ケトーシス型高グリシン血症 Neonatal nonketotic hyperglycinemia MONDO:0017353 exactMatch http://glycosmos.org/glycogene/2653 2653 GCSH protein binding | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004047 16189514,32296183 | 3348809 http://nanbyodata.jp/ontology/NANDO_1200986 NANDO:1200986 指定難病 Designated intractable disease 乳児型非ケトーシス型高グリシン血症 Infantile nonketotic hyperglycinemia MONDO:0017354 exactMatch http://glycosmos.org/glycogene/2670 2670 GFAP identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005178 25416956,25910212,32296183 | | 16189514,17500595,25416956,25910212,26871637,27229929,29892012,31515488,32296183,32814053,33961781,34819669 | | http://nanbyodata.jp/ontology/NANDO_1200555 NANDO:1200555 指定難病 Designated intractable disease 大脳優位型アレキサンダー病 Alexander disease type I MONDO:0018209 exactMatch http://glycosmos.org/glycogene/2670 2670 GFAP identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005178 25416956,25910212,32296183 | | 16189514,17500595,25416956,25910212,26871637,27229929,29892012,31515488,32296183,32814053,33961781,34819669 | | http://nanbyodata.jp/ontology/NANDO_1200556 NANDO:1200556 指定難病 Designated intractable disease 延髄・脊髄優位型アレキサンダー病 Alexander disease type II MONDO:0018210 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_1200066 NANDO:1200066 指定難病 Designated intractable disease GM1ガングリオシドーシス GM1 gangliosidosis MONDO:0018149 exactMatch http://glycosmos.org/glycogene/2731 2731 GLDC glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0004375 | http://purl.obolibrary.org/obo/GO_0070280 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0042803 | | 28244183 | | | 2268343 | http://nanbyodata.jp/ontology/NANDO_1200985 NANDO:1200985 指定難病 Designated intractable disease 新生児型非ケトーシス型高グリシン血症 Neonatal nonketotic hyperglycinemia MONDO:0017353 exactMatch http://glycosmos.org/glycogene/2731 2731 GLDC glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0004375 | http://purl.obolibrary.org/obo/GO_0070280 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0042803 | | 28244183 | | | 2268343 | http://nanbyodata.jp/ontology/NANDO_1200986 NANDO:1200986 指定難病 Designated intractable disease 乳児型非ケトーシス型高グリシン血症 Infantile nonketotic hyperglycinemia MONDO:0017354 exactMatch http://glycosmos.org/glycogene/2896 2896 GRN growth factor activity | RNA binding | cytokine activity | protein-folding chaperone binding | protein binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 1542665 | 22658674 | | 27789271 | 12526812,16189514,21078624,21092856,21516116,21653829,21988832,23088713,23236149,24070898,25416956,25839164,25910212,26370502,27789271,28453791,28493053,28541286,29892012,31515488,32296183,32814053,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/2896 2896 GRN growth factor activity | RNA binding | cytokine activity | protein-folding chaperone binding | protein binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 1542665 | 22658674 | | 27789271 | 12526812,16189514,21078624,21092856,21516116,21653829,21988832,23088713,23236149,24070898,25416956,25839164,25910212,26370502,27789271,28453791,28493053,28541286,29892012,31515488,32296183,32814053,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_1200550 NANDO:1200550 指定難病 Designated intractable disease 意味性認知症 Semantic dementia MONDO:0010857 exactMatch http://glycosmos.org/glycogene/2992 2992 GYG1 glycosyltransferase activity | protein binding | protein homodimerization activity | glycogenin glucosyltransferase activity | manganese ion binding http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0008466 | http://purl.obolibrary.org/obo/GO_0030145 | 16189514,17055998,25416956,32296183,35271311 | 22160680,30356213 | 20357282,22160680,30356213 | 22160680,30356213 http://nanbyodata.jp/ontology/NANDO_1200837 NANDO:1200837 指定難病 Designated intractable disease 筋型糖原病XV型 Glycogen storage diseases type XV MONDO:0013291 exactMatch http://glycosmos.org/glycogene/4137 4137 MAPT lipoprotein particle binding | phosphatidylinositol binding | protein-macromolecule adaptor activity | protein binding | phosphatidylinositol bisphosphate binding | protein-folding chaperone binding | double-stranded DNA binding | microtubule binding | sequence-specific DNA binding | apolipoprotein binding | protein phosphatase 2A binding | enzyme binding | histone-dependent DNA binding | dynactin binding | microtubule lateral binding | RNA binding | Hsp90 protein binding | identical protein binding | DNA binding | minor groove of adenine-thymine-rich DNA binding | protein kinase binding | single-stranded DNA binding | actin binding | SH3 domain binding http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1902936 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0099077 | http://purl.obolibrary.org/obo/GO_0034452 | http://purl.obolibrary.org/obo/GO_0099609 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017124 7972031 | 28386764 | 28386764 | 10987820,15953362,16115884,16275660,16446437,17078951,17317006,17932487,18292230,19138662,19527721,19647741,20133804,20655099,21339331,21692989,21985244,22303461,22367970,23399914,23589030,23666762,24028865,24098548,24113872,24165324,24251416,24581495,25051234,25156556,26014385,26269332,26395440,26402096,26436840,26618561,28575131,28650319,28755476,29636414,29764935,29966762,30274285,30367664,30382094,30668577,3111527,31640277,32812023,32814053,33961781,34757590,35063084,7566652,9689133 | 28386764 | 25051234 | 28386764 | 10747907,1918161,26363795,26609151,28377597,28386764 | 28386764 | 7566652 | 26363795 | 12888622,20133804,23362255,9736630 | 28386764 | 26363795 | 15147841 | 28386764 | 17517623 | 14769047,15654759,16446437,17535890,26014385,26436840,27044754,30158706,30274285,30894745,7929085 | 28386764 | 28386764 | 16923168,17906291,24251416 | 28386764 | 22920254,27306859,28386764 | 9763511 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/4137 4137 MAPT lipoprotein particle binding | phosphatidylinositol binding | protein-macromolecule adaptor activity | protein binding | phosphatidylinositol bisphosphate binding | protein-folding chaperone binding | double-stranded DNA binding | microtubule binding | sequence-specific DNA binding | apolipoprotein binding | protein phosphatase 2A binding | enzyme binding | histone-dependent DNA binding | dynactin binding | microtubule lateral binding | RNA binding | Hsp90 protein binding | identical protein binding | DNA binding | minor groove of adenine-thymine-rich DNA binding | protein kinase binding | single-stranded DNA binding | actin binding | SH3 domain binding http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1902936 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0099077 | http://purl.obolibrary.org/obo/GO_0034452 | http://purl.obolibrary.org/obo/GO_0099609 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017124 7972031 | 28386764 | 28386764 | 10987820,15953362,16115884,16275660,16446437,17078951,17317006,17932487,18292230,19138662,19527721,19647741,20133804,20655099,21339331,21692989,21985244,22303461,22367970,23399914,23589030,23666762,24028865,24098548,24113872,24165324,24251416,24581495,25051234,25156556,26014385,26269332,26395440,26402096,26436840,26618561,28575131,28650319,28755476,29636414,29764935,29966762,30274285,30367664,30382094,30668577,3111527,31640277,32812023,32814053,33961781,34757590,35063084,7566652,9689133 | 28386764 | 25051234 | 28386764 | 10747907,1918161,26363795,26609151,28377597,28386764 | 28386764 | 7566652 | 26363795 | 12888622,20133804,23362255,9736630 | 28386764 | 26363795 | 15147841 | 28386764 | 17517623 | 14769047,15654759,16446437,17535890,26014385,26436840,27044754,30158706,30274285,30894745,7929085 | 28386764 | 28386764 | 16923168,17906291,24251416 | 28386764 | 22920254,27306859,28386764 | 9763511 http://nanbyodata.jp/ontology/NANDO_1200550 NANDO:1200550 指定難病 Designated intractable disease 意味性認知症 Semantic dementia MONDO:0010857 exactMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_1200604 NANDO:1200604 指定難病 Designated intractable disease 典型的レット症候群 Typical Rett syndrome MONDO:0010726 closeMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_1200605 NANDO:1200605 指定難病 Designated intractable disease 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 exactMatch http://glycosmos.org/glycogene/4512 4512 COX1 heme binding | metal ion binding | protein binding | cytochrome-c oxidase activity http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129 | | 12762840,23260140,26321642,29154948,33961781 | 12140182 http://nanbyodata.jp/ontology/NANDO_1200176 NANDO:1200176 指定難病 Designated intractable disease ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:0010789 exactMatch http://glycosmos.org/glycogene/4540 4540 ND5 NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137 | 15250827,3921850 http://nanbyodata.jp/ontology/NANDO_1200176 NANDO:1200176 指定難病 Designated intractable disease ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群 Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome MONDO:0010789 exactMatch http://glycosmos.org/glycogene/4540 4540 ND5 NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137 | 15250827,3921850 http://nanbyodata.jp/ontology/NANDO_1200177 NANDO:1200177 指定難病 Designated intractable disease 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 exactMatch http://glycosmos.org/glycogene/4589 4589 MUC7 protein binding http://purl.obolibrary.org/obo/GO_0005515 16203048 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/4607 4607 MYBPC3 metal ion binding | myosin heavy chain binding | titin binding | actin binding | myosin binding | ATPase activator activity | protein binding | structural constituent of muscle | identical protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0032036 | http://purl.obolibrary.org/obo/GO_0031432 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0001671 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008307 | http://purl.obolibrary.org/obo/GO_0042802 | 17192269 | 7493025 | | 10024460 | | 21569246 | 7493025 | 18201573 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/23327 23327 NEDD4L sodium channel regulator activity | protein binding | transmembrane transporter binding | potassium channel inhibitor activity | sodium channel inhibitor activity | ubiquitin protein ligase activity | ubiquitin-protein transferase activity | potassium channel regulator activity http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0019870 | http://purl.obolibrary.org/obo/GO_0019871 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0015459 11244092 | 11244092,15677482,18577513,19664597,19706893,20086093,20936779,22024150,22921829,23236378,23529131,23686771,23873930,25416956,26854353,27445338,28514442,31980649,32296183,33961781,34927784,35271311,36931259,38270169 | 15217910,21463633 | 21463633 | 15217910 | 17502380 | 11244092 | 17289006 http://nanbyodata.jp/ontology/NANDO_1201079 NANDO:1201079 指定難病 Designated intractable disease 脳室周囲結節状異所性灰白質 Periventricular nodular heterotopia MONDO:0020341 exactMatch http://glycosmos.org/glycogene/23129 23129 PLXND1 semaphorin receptor activity | protein domain specific binding | protein binding http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | 24841563 | 17318185,24139859,24841563,32296183 http://nanbyodata.jp/ontology/NANDO_2200261 NANDO:2200261 小児慢性特定疾病 Specific pediatric chronic disease 総動脈幹遺残症 Truncus arteriosus communis MONDO:0018072 exactMatch http://glycosmos.org/glycogene/274 274 BIN1 aspartic-type endopeptidase inhibitor activity | protein binding | RNA polymerase binding | signaling adaptor activity | GTPase binding | clathrin binding | protein-folding chaperone binding | tau protein binding | phospholipid binding | protease binding | lipid binding | identical protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0051020 | http://purl.obolibrary.org/obo/GO_0030276 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051015 27179792 | 10903846,12604805,12668730,15992821,16275660,16530520,17676042,18647389,18985028,19004523,23399914,23917616,24169621,26395440,26506308,28755476,31413325,32552912,33961781,35271311 | 16530520 | | | 25051234 | 25051234 | 23399914,25051234,28386764,28755476 | | 27179792 | 18658220 | 23917616,31413325 | 26506308 http://nanbyodata.jp/ontology/NANDO_1200481 NANDO:1200481 指定難病 Designated intractable disease ミオチュブラーミオパチー Myotubular myopathy MONDO:0018947 closeMatch http://glycosmos.org/glycogene/274 274 BIN1 aspartic-type endopeptidase inhibitor activity | protein binding | RNA polymerase binding | signaling adaptor activity | GTPase binding | clathrin binding | protein-folding chaperone binding | tau protein binding | phospholipid binding | protease binding | lipid binding | identical protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0051020 | http://purl.obolibrary.org/obo/GO_0030276 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051015 27179792 | 10903846,12604805,12668730,15992821,16275660,16530520,17676042,18647389,18985028,19004523,23399914,23917616,24169621,26395440,26506308,28755476,31413325,32552912,33961781,35271311 | 16530520 | | | 25051234 | 25051234 | 23399914,25051234,28386764,28755476 | | 27179792 | 18658220 | 23917616,31413325 | 26506308 http://nanbyodata.jp/ontology/NANDO_1200482 NANDO:1200482 指定難病 Designated intractable disease 中心核ミオパチー Centronuclear myopathy MONDO:0018947 exactMatch http://glycosmos.org/glycogene/7355 7355 SLC35A2 antiporter activity | UDP-galactose transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015297 | http://purl.obolibrary.org/obo/GO_0005459 | http://purl.obolibrary.org/obo/GO_0005515 | | 23089177,28167211,32296183,32827291,33961781 http://nanbyodata.jp/ontology/NANDO_1200565 NANDO:1200565 指定難病 Designated intractable disease 限局性皮質異形成タイプ1a Focal cortical dysplasia type 1a MONDO:0017096 exactMatch http://glycosmos.org/glycogene/7124 7124 TNF death receptor agonist activity | identical protein binding | transcription cis-regulatory region binding | receptor ligand activity | tumor necrosis factor receptor binding | cytokine activity | protease binding | protein binding http://purl.obolibrary.org/obo/GO_0038177 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005515 10748004 | 14512626,19838188,23815148,2922050 | 17350185 | | 14512626,9435233 | 10748004,24966471,27830702 | 12777399 | 11878931,12887920,14743216,17681535,19838188,20080539,20103630,21784977,22028622,23032186,23104095,23955153,24070898,25241761,25911380,26649818,2848815,30561431,32296183,32814053,33961781,36555597 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_1200568 NANDO:1200568 指定難病 Designated intractable disease 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_1200569 NANDO:1200569 指定難病 Designated intractable disease 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 exactMatch http://glycosmos.org/glycogene/57505 57505 AARS2 aminoacyl-tRNA editing activity | ATP binding | zinc ion binding | protein binding | tRNA binding | alanine-tRNA ligase activity http://purl.obolibrary.org/obo/GO_0002161 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0004813 | | | 32296183 | | 21549344 http://nanbyodata.jp/ontology/NANDO_1200952 NANDO:1200952 指定難病 Designated intractable disease 卵巣機能障害を伴う進行性白質脳症 Leukoencephalopathy, progressive, with ovarian failure MONDO:0014387 exactMatch http://glycosmos.org/glycogene/79152 79152 FA2H fatty acid alpha-hydroxylase activity | protein binding | iron ion binding | heme binding http://purl.obolibrary.org/obo/GO_0080132 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 15337768,15863841,17355976,22517924 | 32296183,32814053 | | http://nanbyodata.jp/ontology/NANDO_1200541 NANDO:1200541 指定難病 Designated intractable disease FAHN Fatty acid hydroxylase-associated neurodegeneration MONDO:0012866 closeMatch http://glycosmos.org/glycogene/79152 79152 FA2H fatty acid alpha-hydroxylase activity | protein binding | iron ion binding | heme binding http://purl.obolibrary.org/obo/GO_0080132 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 15337768,15863841,17355976,22517924 | 32296183,32814053 | | http://nanbyodata.jp/ontology/NANDO_1200541 NANDO:1200541 指定難病 Designated intractable disease FAHN Fatty acid hydroxylase-associated neurodegeneration MONDO:0017999 exactMatch http://glycosmos.org/glycogene/84668 84668 HYCC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 26571211,26871637,32296183 http://nanbyodata.jp/ontology/NANDO_1200584 NANDO:1200584 指定難病 Designated intractable disease 先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract MONDO:0012514 exactMatch http://glycosmos.org/glycogene/339829 339829 CCDC39 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/55689 55689 YEATS2 TBP-class protein binding | histone reader activity | protein binding | transcription corepressor activity | modification-dependent protein binding | histone binding http://purl.obolibrary.org/obo/GO_0017025 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140030 | http://purl.obolibrary.org/obo/GO_0042393 18838386 | 27103431 | 18838386 | 18838386 | 27103431 | 27103431 http://nanbyodata.jp/ontology/NANDO_1200956 NANDO:1200956 指定難病 Designated intractable disease 良性成人型家族性ミオクローヌスてんかん Benign adult familial myoclonus epilepsy MONDO:0019448 exactMatch http://glycosmos.org/glycogene/154 154 ADRB2 norepinephrine binding | identical protein binding | potassium channel regulator activity | protein-containing complex binding | protein binding | amyloid-beta binding | protein homodimerization activity | adenylate cyclase binding | beta2-adrenergic receptor activity http://purl.obolibrary.org/obo/GO_0051380 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0008179 | http://purl.obolibrary.org/obo/GO_0004941 15123695 | 15518545,19763081,20590567 | 12297500 | 20395454 | 15123695,17148612,17170700,19424180,19584355,20353789,20733053,23166351,23208550,23236378,23291003,24405750,28298427,32814053,9560162,9671706 | 20395454 | 15123695 | | 15123695,19710023,20395454 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/352909 352909 DNAAF3 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/226 226 ALDOA cadherin binding | fructose-bisphosphate aldolase activity | identical protein binding | tubulin binding | actin binding | RNA binding | protein binding | cytoskeletal protein binding | fructose binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004332 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0070061 25468996 | 14766013,9244396 | 10944123,21988832,25416956,32296183 | 17329259 | 1008835 | 22681889 | 20849852,21988832,23355646,25416956,25910212,26496610,28514442,31515488,32814053,33961781 | 9244396 | 10048322,14766013 http://nanbyodata.jp/ontology/NANDO_1200834 NANDO:1200834 指定難病 Designated intractable disease 筋型糖原病XII型 Glycogen storage diseases type XII MONDO:0012747 exactMatch http://glycosmos.org/glycogene/240 240 ALOX5 iron ion binding | arachidonate 12(S)-lipoxygenase activity | protein binding | arachidonate 8(S)-lipoxygenase activity | oxidoreductase activity | arachidonate 5-lipoxygenase activity | hydrolase activity | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0004052 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036403 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0004051 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0016701 21233389 | | 11297527,16924104,19022417,19233132,24860872,25416956,25910212,26210919,31515488,32296183,32814053,7929073 | | | 19022417,21233389,22516296,23246375,24282679,24893149,8615788,8631361 | | http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/9568 9568 GABBR2 G protein-coupled GABA receptor activity | protein binding | protein heterodimerization activity | transmembrane signaling receptor activity http://purl.obolibrary.org/obo/GO_0004965 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004888 9872316 | 16724110,24305054,24658140,32555460,32580208,32581365,37207277 | 15304491 | http://nanbyodata.jp/ontology/NANDO_1200605 NANDO:1200605 指定難病 Designated intractable disease 非典型的レット症候群 Atypical Rett syndrome MONDO:0017746 exactMatch http://glycosmos.org/glycogene/275 275 AMT protein binding | transaminase activity | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0004047 32296183 | | 16051266 http://nanbyodata.jp/ontology/NANDO_1200985 NANDO:1200985 指定難病 Designated intractable disease 新生児型非ケトーシス型高グリシン血症 Neonatal nonketotic hyperglycinemia MONDO:0017353 exactMatch http://glycosmos.org/glycogene/275 275 AMT protein binding | transaminase activity | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0004047 32296183 | | 16051266 http://nanbyodata.jp/ontology/NANDO_1200986 NANDO:1200986 指定難病 Designated intractable disease 乳児型非ケトーシス型高グリシン血症 Infantile nonketotic hyperglycinemia MONDO:0017354 exactMatch http://glycosmos.org/glycogene/287 287 ANK2 phosphorylation-dependent protein binding | structural constituent of cytoskeleton | spectrin binding | ATPase binding | cytoskeletal anchor activity | protein binding | transmembrane transporter binding | enzyme binding | protein-macromolecule adaptor activity | protein kinase binding http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0030507 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0008093 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0019901 25950943 | | 15262991 | | | 15262991,15611082,16292983,17178715,17474147,19109891,19805355,20489164,21859974,26949739,30021884,36950384 | 20610380,21859974 | 21177872 | | 18782775 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_1200168 NANDO:1200168 指定難病 Designated intractable disease 副腎脊髄ニューロパチー Adrenomyeloneuropathy MONDO:0015339 exactMatch http://glycosmos.org/glycogene/348 348 APOE heparin binding | structural molecule activity | receptor ligand activity | very-low-density lipoprotein particle receptor binding | phospholipid binding | identical protein binding | lipoprotein particle binding | lipid transporter activity | protein dimerization activity | lipid binding | protein binding | signaling receptor binding | protein-containing complex binding | heparan sulfate proteoglycan binding | phosphatidylcholine-sterol O-acyltransferase activator activity | tau protein binding | metal chelating activity | low-density lipoprotein particle receptor binding | antioxidant activity | cholesterol transfer activity | enzyme binding | amyloid-beta binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0070326 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0060228 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0046911 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0016209 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0042803 2745454,7635945 | 22138302 | 27477018 | 12950167,1384047 | 4066713 | 4066713,8340399 | | 17305370 | 22138302 | 4066713 | 12950167,14754908,15182176,15615705,17116874,19758344,20030366,21163940,21593558,22528093,24447298,25122793,26387950,26468283,26921451,28514442,28887769,29507344,30341064,30448281,31270237,32814053,33961781,7566652,7972031,8245722 | 27477018 | 25207746 | 23676495,7683668,9488694 | 15654758 | 7566652 | 9685360 | 1530612,17326667,20005821,210175,7635945 | 9685360 | | 15654758 | 11305869,22138302,25207746,8089103,9003062,9211985 | 8089103,8245722,9211985 http://nanbyodata.jp/ontology/NANDO_2200134 NANDO:2200134 小児慢性特定疾病 Specific pediatric chronic disease リポタンパク糸球体症 Lipoprotein glomerulopathy MONDO:0012725 exactMatch http://glycosmos.org/glycogene/9992 9992 KCNE2 transmembrane transporter binding | identical protein binding | inward rectifier potassium channel activity | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | protein binding | delayed rectifier potassium channel activity | potassium channel regulator activity http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005242 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0015459 10219239 | | 10219239 | 10219239 | 11101505,20533308 | 10219239 | 10219239,19219384 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_1200582 NANDO:1200582 指定難病 Designated intractable disease サラ病 Salla disease MONDO:0011449 exactMatch http://glycosmos.org/glycogene/7415 7415 VCP ubiquitin-dependent protein binding | ubiquitin-like protein ligase binding | polyubiquitin modification-dependent protein binding | MHC class I protein binding | ADP binding | protein domain specific binding | lipid binding | BAT3 complex binding | RNA binding | ATP hydrolysis activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin extrusion motor activity | deubiquitinase activator activity | ATP-dependent H2AZ histone chaperone activity | cohesin loader activity | identical protein binding | DNA clamp loader activity | ubiquitin protein ligase binding | K48-linked polyubiquitin modification-dependent protein binding | ubiquitin-specific protease binding | protein phosphatase binding | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0140036 | http://purl.obolibrary.org/obo/GO_0044389 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_1904288 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0035800 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0036435 | http://purl.obolibrary.org/obo/GO_1990381 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 29033132,31387940,35013556 | 16186510 | 11483959 | | | 15362974 | | 21636303 | 22681889 | 15215856,23349634,24129571 | | | 22970133 | | | 20512113,24055316,25416956,26712278,26822609,26849035 | | 22590560 | 37816088 | 22590560,22970133 | 10364224 | | 10364224,10855792,15161933,15215856,15743842,16186510,16275660,16306228,16407162,16449189,16525503,17314412,17525332,17681147,17872946,18654987,18656546,18711132,18775313,19275885,19570996,19818707,19822669,20414249,21135095,21343306,21645854,21822278,21900206,21949850,21988832,22119785,22120668,22466964,22795130,22902628,22948820,23042605,23042607,23349634,24089527,24726327,25416956,25593058,25814554,25959826,26265139,26389662,26471729,26496610,26712280,26842564,27714797,27753622,27812135,28514442,29804830,29892012,29997244,30455355,31073040,31515488,31847414,32152270,32296183,32814053,33961781,35271311,35273242,9452483 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/775 775 CACNA1C voltage-gated calcium channel activity involved in AV node cell action potential | metal ion binding | protein binding | high voltage-gated calcium channel activity | alpha-actinin binding | voltage-gated calcium channel activity | calmodulin binding | voltage-gated calcium channel activity involved in cardiac muscle cell action potential http://purl.obolibrary.org/obo/GO_0086056 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086007 26253506 | | 11438518,15140941,18535142,21134641,21653829,37207277 | 11576544,15454078 | 17110593 | 11741969,12130699,12176756,15863612,16299511,17071743,20953164,24728418,25260352,27218670,28119464,29078335,31430211,7737988,8099908,8392192,9013606,9087614,9607315 | 15140941 | 15454078,17224476 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/845 845 CASQ2 calcium ion sequestering activity | protein binding | calcium-dependent protein binding | protein homodimerization activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0140314 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005509 16908766,21416293 | 22123818,32296183 | 15485681 | | 16601229,16908766,17881003 http://nanbyodata.jp/ontology/NANDO_2200216 NANDO:2200216 小児慢性特定疾病 Specific pediatric chronic disease 多源性心室期外収縮 Polymorphic ventricular premature beat MONDO:0017990 closeMatch http://glycosmos.org/glycogene/845 845 CASQ2 calcium ion sequestering activity | protein binding | calcium-dependent protein binding | protein homodimerization activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0140314 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005509 16908766,21416293 | 22123818,32296183 | 15485681 | | 16601229,16908766,17881003 http://nanbyodata.jp/ontology/NANDO_2200221 NANDO:2200221 小児慢性特定疾病 Specific pediatric chronic disease カテコラミン誘発多形性心室頻拍 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 exactMatch http://glycosmos.org/glycogene/26146 26146 TRAF3IP1 protein binding | microtubule binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 10791955,12812986,12935900,17043677,20391533,30021884,31413325,32296183 | http://nanbyodata.jp/ontology/NANDO_1201049 NANDO:1201049 指定難病 Designated intractable disease セニオール・ローケン症候群 Senior-Loken syndrome MONDO:0017842 exactMatch http://glycosmos.org/glycogene/55703 55703 POLR3B DNA-directed 5'-3' RNA polymerase activity | ribonucleoside binding | DNA binding | DNA/RNA hybrid binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0003899 | http://purl.obolibrary.org/obo/GO_0032549 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0008270 34675218 | | | 34675218 | 34675218 http://nanbyodata.jp/ontology/NANDO_1200585 NANDO:1200585 指定難病 Designated intractable disease 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 exactMatch http://glycosmos.org/glycogene/3135 3135 HLA-G protein binding | protein homodimerization activity | CD8 receptor binding | identical protein binding | signaling receptor binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0042610 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0042605 10190900,11520457,12582157,12853576,12874224,16366734,16455647,16809620,17056715,19583775,22802125,24018270,24899623,28348268,9640257 | 12874224,22802125 | 12853576 | 16455647,18550825,22802125,28348268 | 20702625,22802125 | 20122941,7584149,8805247 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_1200078 NANDO:1200078 指定難病 Designated intractable disease 異染性白質ジストロフィー Metachromatic leukodystrophy MONDO:0018868 exactMatch http://glycosmos.org/glycogene/5048 5048 PAFAH1B1 protein heterodimerization activity | dynein complex binding | phospholipase binding | microtubule binding | protein binding | identical protein binding | microtubule plus-end binding | phosphoprotein binding | dynactin binding | dynein intermediate chain binding | heparin binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0043274 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051010 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0034452 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008201 | 11889140 | 8028668 | 10729324 | 10931877,11163258,11940666,16754861,20133715,20360068,22159412,27173435,28514442,29961565,31413325,33961781,38547289 | | | | 11056532 | | 8028668 http://nanbyodata.jp/ontology/NANDO_1201070 NANDO:1201070 指定難病 Designated intractable disease 皮質下帯状異所性灰白質 Subcortical band heterotopia MONDO:0020491 exactMatch http://glycosmos.org/glycogene/5155 5155 PDGFB protein heterodimerization activity | platelet-derived growth factor binding | protein homodimerization activity | platelet-derived growth factor receptor binding | identical protein binding | superoxide-generating NADPH oxidase activator activity | collagen binding | chemoattractant activity | growth factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016176 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 7073684 | 7073684 | 2836953 | 1661670,20534510,2439522,2536956,2836953 | 1396586,23139410,7679113 | 17942966 | 8900172 | 21245381 | 12070119 | 10806482,11297552,12070119,17981115,20534510,2536956,32296183,7679113 http://nanbyodata.jp/ontology/NANDO_1200208 NANDO:1200208 指定難病 Designated intractable disease 家族性特発性基底核石灰化症 Familial idiopathic basal ganglia calcification MONDO:0024538 exactMatch http://glycosmos.org/glycogene/5159 5159 PDGFRB stem cell factor receptor activity | GTPase activator activity | platelet-derived growth factor beta-receptor activity | GPI-linked ephrin receptor activity | transmembrane-ephrin receptor activity | platelet activating factor receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | fibroblast growth factor receptor activity | platelet-derived growth factor receptor activity | protein kinase activity | epidermal growth factor receptor activity | vascular endothelial growth factor binding | signaling receptor binding | placental growth factor receptor activity | hepatocyte growth factor receptor activity | protein tyrosine kinase activity | ATP binding | macrophage colony-stimulating factor receptor activity | protein binding | insulin receptor activity | enzyme binding | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor receptor binding | platelet-derived growth factor binding | protein kinase binding | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0004992 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005017 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0038085 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | 1653029 | 1314164,2536956,2554309,26599395,2850496 | | | 2536956 | | | | 2536956 | 1314164 | | 17470632 | 10821867 | | | 1653029 | | | 10336465,10752619,10806482,10821867,11297552,11710529,11896612,12614164,12706723,1314164,1330535,1334459,1375321,1396585,15641795,16456542,16477012,1661130,17242191,17470632,17981115,18997771,19167335,19864249,20534510,21245321,21376233,2157284,23063561,23397142,24012959,25241761,25416956,30015847,31585087,32296183,32814053,33961781,35384245,7530043,7536927,7545675,7679113,7680644,7683666,7685273,7687537,7688466,7692233,7876130,8119896,8181064,8183548,8382612,8382774,8538796,8555205,8564419,8670861,8940081,9153411,9355745,9512716,9742401 | | 26315405 | | 2542288 | 2536956,2554309,2850496 | 16479011 | | | http://nanbyodata.jp/ontology/NANDO_1200208 NANDO:1200208 指定難病 Designated intractable disease 家族性特発性基底核石灰化症 Familial idiopathic basal ganglia calcification MONDO:0024538 exactMatch http://glycosmos.org/glycogene/5195 5195 PEX14 protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding http://purl.obolibrary.org/obo/GO_0008320 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0008017 28765278 | 10562279,10704444,11863372,12096124,12488033,19197237,19584060,21525035,21976670,24235149,29997244,31467278,32296183,37398436,9653144 | 10022913,21525035 | 11863372 | 12488033 | 11438541,24235149,28765278 | 21525035 | 21525035 http://nanbyodata.jp/ontology/NANDO_1200759 NANDO:1200759 指定難病 Designated intractable disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/5230 5230 PGK1 ADP binding | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | phosphoglycerate kinase activity | metal ion binding | protein-disulfide reductase (NAD(P)) activity | ATP binding http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004618 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047134 | http://purl.obolibrary.org/obo/GO_0005524 | 26942675 | | 20392205,20849852,26030842,26356530,26942675,28514442,32707033,33961781,35271311 | 1278465,5009693,7391028 | | 11130727 | http://nanbyodata.jp/ontology/NANDO_1200831 NANDO:1200831 指定難病 Designated intractable disease ホスホグリセリン酸キナーゼ欠損症 Phosphoglycerate kinase deficiency MONDO:0010392 exactMatch http://glycosmos.org/glycogene/5236 5236 PGM1 phosphoglucomutase activity | magnesium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0004614 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005515 1530890,25288802,30982613,8257433 | 26972339 | 21044950 http://nanbyodata.jp/ontology/NANDO_1200836 NANDO:1200836 指定難病 Designated intractable disease 筋型糖原病XIV型 Glycogen storage diseases type XIV MONDO:0013968 exactMatch http://glycosmos.org/glycogene/5255 5255 PHKA1 protein binding | calmodulin binding | phosphorylase kinase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004689 32296183 | | 8226841 http://nanbyodata.jp/ontology/NANDO_1200830 NANDO:1200830 指定難病 Designated intractable disease 筋型糖原病IXd型 Glycogen storage diseases type IXd MONDO:0010362 exactMatch http://glycosmos.org/glycogene/5260 5260 PHKG1 enzyme binding | histone H4S1 kinase activity | histone H3T11 kinase activity | protein serine kinase activity | phosphorylase kinase activity | histone H2BS14 kinase activity | histone H2AS1 kinase activity | ATP binding | ribosomal protein S6 kinase activity | DNA-dependent protein kinase activity | histone H3T6 kinase activity | histone H2BS36 kinase activity | tau-protein kinase activity | calmodulin binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | histone H2AT120 kinase activity | histone H3S57 kinase activity | histone H3T45 kinase activity | histone H3S28 kinase activity | histone H2AS121 kinase activity | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S10 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0050321 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004694 | | | | | | | | | | | | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_1200830 NANDO:1200830 指定難病 Designated intractable disease 筋型糖原病IXd型 Glycogen storage diseases type IXd MONDO:0010362 exactMatch http://glycosmos.org/glycogene/5318 5318 PKP2 molecular adaptor activity | transmembrane transporter binding | cadherin binding | intermediate filament binding | alpha-catenin binding | protein kinase C binding | protein binding | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication | sodium channel regulator activity | DNA binding http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0019215 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0086083 | http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0003677 18474624 | | 25468996 | 10852826 | 23136403 | 18474624 | 10852826,11416169,11790773,12941695,15778465,25416956,25910212,28169297,31515488,32296183,32353859,33060197,35271311,36217030,36931259 | 22889254 | | 20613778 http://nanbyodata.jp/ontology/NANDO_2200230 NANDO:2200230 小児慢性特定疾病 Specific pediatric chronic disease 不整脈源性右室心筋症 Arrhythmogenic right ventricular cardiomyopathy or dysplasia MONDO:0016587 exactMatch http://glycosmos.org/glycogene/5318 5318 PKP2 molecular adaptor activity | transmembrane transporter binding | cadherin binding | intermediate filament binding | alpha-catenin binding | protein kinase C binding | protein binding | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication | sodium channel regulator activity | DNA binding http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0019215 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0086083 | http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0003677 18474624 | | 25468996 | 10852826 | 23136403 | 18474624 | 10852826,11416169,11790773,12941695,15778465,25416956,25910212,28169297,31515488,32296183,32353859,33060197,35271311,36217030,36931259 | 22889254 | | 20613778 http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/7941 7941 PLA2G7 1-alkyl-2-acetylglycerophosphocholine esterase activity | hydrolase activity, acting on ester bonds | calcium-independent phospholipase A2 activity | phospholipid binding | protein binding http://purl.obolibrary.org/obo/GO_0003847 | http://purl.obolibrary.org/obo/GO_0016788 | http://purl.obolibrary.org/obo/GO_0047499 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 10066756,10504265,11590221,16371369,8624782 | | 2040620,8624782 | 8624782 | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/5354 5354 PLP1 structural constituent of myelin sheath | structural molecule activity | identical protein binding | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0019911 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | 2479017 | 17962415 | | 25416956,25910212,26871637,26960425,32296183,32814053,35217805 http://nanbyodata.jp/ontology/NANDO_1200576 NANDO:1200576 指定難病 Designated intractable disease ペリツェウス・メルツバッハ病 Pelizaeus-Merzbacher disease MONDO:0010714 exactMatch http://glycosmos.org/glycogene/5824 5824 PEX19 protein carrier chaperone | peroxisome membrane class-1 targeting sequence binding | protein binding | peroxisome membrane targeting sequence binding | ATPase binding http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0036105 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033328 | http://purl.obolibrary.org/obo/GO_0051117 11402059,14709540 | 14709540 | 10704444,10777694,11402059,11590176,11883941,12096124,12488033,14709540,15713480,16189514,16280322,16344115,16763195,18174172,18782765,19114594,19197237,19715730,20531392,21102411,21525035,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,34819669,35271311,37398436,38225382 | | 11453642 http://nanbyodata.jp/ontology/NANDO_1200759 NANDO:1200759 指定難病 Designated intractable disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/6262 6262 RYR2 calcium-induced calcium release activity | suramin binding | identical protein binding | calcium ion binding | protein binding | ryanodine-sensitive calcium-release channel activity | calmodulin binding | transmembrane transporter binding | calcium-release channel activity | protein kinase A regulatory subunit binding | enzyme binding | calcium channel activity | protein kinase A catalytic subunit binding http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0043924 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005219 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0015278 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0034236 17921453 | 19220289 | 10830164 | | 10830164,11237759,17921453,20195357,23233753 | 12443530,17921453,27733687,33536282 | 19220289,22067155,23040497,26164367,27516456 | | 17921453 | 10830164 | 16213210 | | 10830164 http://nanbyodata.jp/ontology/NANDO_2200216 NANDO:2200216 小児慢性特定疾病 Specific pediatric chronic disease 多源性心室期外収縮 Polymorphic ventricular premature beat MONDO:0017990 closeMatch http://glycosmos.org/glycogene/6262 6262 RYR2 calcium-induced calcium release activity | suramin binding | identical protein binding | calcium ion binding | protein binding | ryanodine-sensitive calcium-release channel activity | calmodulin binding | transmembrane transporter binding | calcium-release channel activity | protein kinase A regulatory subunit binding | enzyme binding | calcium channel activity | protein kinase A catalytic subunit binding http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0043924 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005219 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0015278 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0034236 17921453 | 19220289 | 10830164 | | 10830164,11237759,17921453,20195357,23233753 | 12443530,17921453,27733687,33536282 | 19220289,22067155,23040497,26164367,27516456 | | 17921453 | 10830164 | 16213210 | | 10830164 http://nanbyodata.jp/ontology/NANDO_2200221 NANDO:2200221 小児慢性特定疾病 Specific pediatric chronic disease カテコラミン誘発多形性心室頻拍 Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 exactMatch http://glycosmos.org/glycogene/6336 6336 SCN10A transmembrane transporter binding | voltage-gated sodium channel activity | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0099508 24998131 | 23115331,9839820 | http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_1200500 NANDO:1200500 指定難病 Designated intractable disease ナトリウムチャネルミオトニー Sodium channel myotonia MONDO:0018959 exactMatch http://glycosmos.org/glycogene/6330 6330 SCN4B voltage-gated sodium channel activity involved in cardiac muscle cell action potential | protein binding | sodium channel regulator activity | voltage-gated sodium channel activity | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0086006 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0044325 17592081 | 32296183 | 17592081,24297919 | 12930796 | 17592081 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/6331 6331 SCN5A fibroblast growth factor binding | nitric-oxide synthase binding | calmodulin binding | voltage-gated sodium channel activity involved in cardiac muscle cell action potential | scaffold protein binding | voltage-gated sodium channel activity involved in Purkinje myocyte action potential | enzyme binding | transmembrane transporter binding | protein kinase binding | voltage-gated sodium channel activity involved in bundle of His cell action potential | ankyrin binding | protein domain specific binding | protein binding | voltage-gated sodium channel activity | voltage-gated sodium channel activity involved in SA node cell action potential | voltage-gated sodium channel activity involved in AV node cell action potential | ubiquitin protein ligase binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086006 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0086062 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0086061 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0086063 | http://purl.obolibrary.org/obo/GO_0086060 | http://purl.obolibrary.org/obo/GO_0031625 12401812 | 18591664 | 21167176 | 18065446,18616619,19808477,21895525,22529811 | 17060380 | 22766342 | 19666841 | 20042427,24998131 | 22514276 | 18065446 | 15579534 | 19943616 | 16728661,16930557,17592081,18184654,18591664,19943616,22514276,22705208,26392562,32296183 | 14500339,17592081,19074138,19943616,21895525,22514276,23085483,26279430,26392562 | 18616619 | 18616619 | 15217910 http://nanbyodata.jp/ontology/NANDO_2200228 NANDO:2200228 小児慢性特定疾病 Specific pediatric chronic disease QT延長症候群 Long qt syndrome MONDO:0019171 closeMatch http://glycosmos.org/glycogene/6356 6356 CCL11 CCR3 chemokine receptor binding | CCR chemokine receptor binding | protein dimerization activity | receptor ligand activity | protein binding | chemokine activity http://purl.obolibrary.org/obo/GO_0031728 | http://purl.obolibrary.org/obo/GO_0048020 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008009 11425309 | | 9712872 | 11425309 | 18275857,21314817,23597562,28381538 | 10072545 http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/6575 6575 SLC20A2 signaling receptor activity | sodium:phosphate symporter activity | virus receptor activity | inorganic phosphate transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005436 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0005315 8302848 | 12205090,15955065,16790504,17494632,22327515,28722801,30704756 | 12205090,15955065 | http://nanbyodata.jp/ontology/NANDO_1200208 NANDO:1200208 指定難病 Designated intractable disease 家族性特発性基底核石灰化症 Familial idiopathic basal ganglia calcification MONDO:0024538 exactMatch http://glycosmos.org/glycogene/6513 6513 SLC2A1 protein binding | D-glucose transmembrane transporter activity | identical protein binding | dehydroascorbic acid transmembrane transporter activity | kinase binding | xenobiotic transmembrane transporter activity | fucose transmembrane transporter activity | glucose transmembrane transporter activity | long-chain fatty acid transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0015150 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005324 18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690 http://nanbyodata.jp/ontology/NANDO_1200520 NANDO:1200520 指定難病 Designated intractable disease DYT9ジストニア Dystonia 9 MONDO:0010983 exactMatch http://glycosmos.org/glycogene/6513 6513 SLC2A1 protein binding | D-glucose transmembrane transporter activity | identical protein binding | dehydroascorbic acid transmembrane transporter activity | kinase binding | xenobiotic transmembrane transporter activity | fucose transmembrane transporter activity | glucose transmembrane transporter activity | long-chain fatty acid transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0015150 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005324 18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690 http://nanbyodata.jp/ontology/NANDO_1200531 NANDO:1200531 指定難病 Designated intractable disease DYT18ジストニア Dystonia 18 MONDO:0012805 exactMatch http://glycosmos.org/glycogene/6535 6535 SLC6A8 creatine:sodium symporter activity | creatine transmembrane transporter activity | gamma-aminobutyric acid:sodium:chloride symporter activity http://purl.obolibrary.org/obo/GO_0005309 | http://purl.obolibrary.org/obo/GO_0005308 | http://purl.obolibrary.org/obo/GO_0005332 17465020,22644605,25861866,7945388,7953292,9882430 | 8661037 | http://nanbyodata.jp/ontology/NANDO_1201035 NANDO:1201035 指定難病 Designated intractable disease クレアチントランスポーター欠損症 Creatine transporter deficiency MONDO:0010305 exactMatch http://glycosmos.org/glycogene/6536 6536 SLC6A9 glycine transmembrane transporter activity | amino acid:sodium symporter activity | glycine:sodium symporter activity http://purl.obolibrary.org/obo/GO_0015187 | http://purl.obolibrary.org/obo/GO_0005283 | http://purl.obolibrary.org/obo/GO_0015375 11159884 | | 8183239 http://nanbyodata.jp/ontology/NANDO_1200986 NANDO:1200986 指定難病 Designated intractable disease 乳児型非ケトーシス型高グリシン血症 Infantile nonketotic hyperglycinemia MONDO:0017354 exactMatch http://glycosmos.org/glycogene/6674 6674 SPAG1 GTP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787 | http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/8878 8878 SQSTM1 protein kinase binding | signaling adaptor activity | ubiquitin protein ligase binding | protein kinase C binding | SH2 domain binding | identical protein binding | protein-containing complex binding | molecular condensate scaffold activity | ubiquitin-dependent protein binding | protein sequestering activity | signaling receptor activity | ionotropic glutamate receptor binding | molecular sequestering activity | protein binding | protein-macromolecule adaptor activity | zinc ion binding | receptor tyrosine kinase binding | ubiquitin binding | enzyme binding | K63-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0140036 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0070530 8650207 | | 25127057,27368102 | 14676191 | 8650207 | 16169070,20562859,21900206,25416956,25686248,32296183 | | 29343546,29507397,31857589,37306101,37802024 | 22017874,27498865,31857589,34893540,36221902 | 37306101 | 28871090 | | 31281713 | 14676191,16169070,16189514,16874300,17389358,17580304,18083104,19229298,19250911,19427866,19615732,20010802,20168092,20173742,20357094,20417604,20452972,20551902,20562859,20808283,21149568,21900206,21988832,22178386,22190034,22421968,23274085,23459205,24089205,24189400,24316673,24668264,24879152,25026213,25040165,25126726,25416956,25422469,25686248,25910212,25959826,26344566,26347139,26524528,26637326,27103069,27728806,28404643,29519959,31169361,31515488,31616248,31980649,32296183,32814053,33436498,33961781,34524948,34591642,34799561,35044719,35271311,37219487,37460613,39009827,8618896,8702753 | 26344566,31857589,34893540,37802024 | | 8650207 | 12857745 | 27368102 | 28404643,29343546 http://nanbyodata.jp/ontology/NANDO_1200218 NANDO:1200218 指定難病 Designated intractable disease 縁取り空胞を伴う遠位型ミオパチー Distal myopathy with rimmed vacuoles MONDO:0014945 closeMatch http://glycosmos.org/glycogene/8878 8878 SQSTM1 protein kinase binding | signaling adaptor activity | ubiquitin protein ligase binding | protein kinase C binding | SH2 domain binding | identical protein binding | protein-containing complex binding | molecular condensate scaffold activity | ubiquitin-dependent protein binding | protein sequestering activity | signaling receptor activity | ionotropic glutamate receptor binding | molecular sequestering activity | protein binding | protein-macromolecule adaptor activity | zinc ion binding | receptor tyrosine kinase binding | ubiquitin binding | enzyme binding | K63-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0140036 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0070530 8650207 | | 25127057,27368102 | 14676191 | 8650207 | 16169070,20562859,21900206,25416956,25686248,32296183 | | 29343546,29507397,31857589,37306101,37802024 | 22017874,27498865,31857589,34893540,36221902 | 37306101 | 28871090 | | 31281713 | 14676191,16169070,16189514,16874300,17389358,17580304,18083104,19229298,19250911,19427866,19615732,20010802,20168092,20173742,20357094,20417604,20452972,20551902,20562859,20808283,21149568,21900206,21988832,22178386,22190034,22421968,23274085,23459205,24089205,24189400,24316673,24668264,24879152,25026213,25040165,25126726,25416956,25422469,25686248,25910212,25959826,26344566,26347139,26524528,26637326,27103069,27728806,28404643,29519959,31169361,31515488,31616248,31980649,32296183,32814053,33436498,33961781,34524948,34591642,34799561,35044719,35271311,37219487,37460613,39009827,8618896,8702753 | 26344566,31857589,34893540,37802024 | | 8650207 | 12857745 | 27368102 | 28404643,29343546 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/54209 54209 TREM2 protein binding | transmembrane signaling receptor activity | protein-containing complex binding | kinase activator activity | semaphorin receptor binding | amyloid-beta binding | lipid binding | lipoprotein particle binding | high-density lipoprotein particle binding | semaphorin receptor activity | lipoteichoic acid binding | scaffold protein binding | apolipoprotein A-I binding | phosphatidylethanolamine binding | lipopolysaccharide binding | beta-catenin binding | apolipoprotein binding | peptidoglycan binding | phosphatidylserine binding | signaling receptor activity | protein tyrosine kinase binding | very-low-density lipoprotein particle binding | sulfatide binding | phospholipid binding | low-density lipoprotein particle binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0070891 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0042834 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030169 11602640,28490631,29611543,30341064 | 29518356,30333625 | 29518356 | 31902528 | | 29518356 | 29518356 | 27477018 | 27477018 | | | 11602640 | 27477018 | 31101881 | | 30683932 | 27477018 | | 31101881,31902528 | 29518356,32514138 | 29518356 | 27477018 | 31902528 | 27995897 | 27477018 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/54209 54209 TREM2 protein binding | transmembrane signaling receptor activity | protein-containing complex binding | kinase activator activity | semaphorin receptor binding | amyloid-beta binding | lipid binding | lipoprotein particle binding | high-density lipoprotein particle binding | semaphorin receptor activity | lipoteichoic acid binding | scaffold protein binding | apolipoprotein A-I binding | phosphatidylethanolamine binding | lipopolysaccharide binding | beta-catenin binding | apolipoprotein binding | peptidoglycan binding | phosphatidylserine binding | signaling receptor activity | protein tyrosine kinase binding | very-low-density lipoprotein particle binding | sulfatide binding | phospholipid binding | low-density lipoprotein particle binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0070891 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0042834 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030169 11602640,28490631,29611543,30341064 | 29518356,30333625 | 29518356 | 31902528 | | 29518356 | 29518356 | 27477018 | 27477018 | | | 11602640 | 27477018 | 31101881 | | 30683932 | 27477018 | | 31101881,31902528 | 29518356,32514138 | 29518356 | 27477018 | 31902528 | 27995897 | 27477018 http://nanbyodata.jp/ontology/NANDO_1200550 NANDO:1200550 指定難病 Designated intractable disease 意味性認知症 Semantic dementia MONDO:0010857 exactMatch http://glycosmos.org/glycogene/27130 27130 INVS calmodulin binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | 18371931,21565611,21602787,29959317,32814053 http://nanbyodata.jp/ontology/NANDO_1201049 NANDO:1201049 指定難病 Designated intractable disease セニオール・ローケン症候群 Senior-Loken syndrome MONDO:0017842 exactMatch http://glycosmos.org/glycogene/54768 54768 HYDIN protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/54664 54664 TMEM106B ATPase binding | protein binding http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0005515 28728022 | 24357581,32296183,32814053,35271311 http://nanbyodata.jp/ontology/NANDO_1200549 NANDO:1200549 指定難病 Designated intractable disease （行動異常型）前頭側頭型認知症 Behavioral variant frontotemporal dementia MONDO:0017160 exactMatch http://glycosmos.org/glycogene/54664 54664 TMEM106B ATPase binding | protein binding http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0005515 28728022 | 24357581,32296183,32814053,35271311 http://nanbyodata.jp/ontology/NANDO_1200550 NANDO:1200550 指定難病 Designated intractable disease 意味性認知症 Semantic dementia MONDO:0010857 exactMatch http://glycosmos.org/glycogene/27235 27235 COQ2 prenyltransferase activity | 4-hydroxybenzoate octaprenyltransferase activity http://purl.obolibrary.org/obo/GO_0004659 | http://purl.obolibrary.org/obo/GO_0008412 15153069 | 16400613,17374725 http://nanbyodata.jp/ontology/NANDO_1200035 NANDO:1200035 指定難病 Designated intractable disease MSA-C Multiple system atrophy, cerebellar type MONDO:0016418 exactMatch http://glycosmos.org/glycogene/27235 27235 COQ2 prenyltransferase activity | 4-hydroxybenzoate octaprenyltransferase activity http://purl.obolibrary.org/obo/GO_0004659 | http://purl.obolibrary.org/obo/GO_0008412 15153069 | 16400613,17374725 http://nanbyodata.jp/ontology/NANDO_1200036 NANDO:1200036 指定難病 Designated intractable disease MSA-P Multiple system atrophy, Parkinsonian type MONDO:0020352 exactMatch http://glycosmos.org/glycogene/160418 160418 TMTC3 dolichyl-phosphate-mannose-protein mannosyltransferase activity | mannosyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004169 | http://purl.obolibrary.org/obo/GO_0000030 | http://purl.obolibrary.org/obo/GO_0005515 28973932 | | 25416956 http://nanbyodata.jp/ontology/NANDO_1201079 NANDO:1201079 指定難病 Designated intractable disease 脳室周囲結節状異所性灰白質 Periventricular nodular heterotopia MONDO:0020341 exactMatch http://glycosmos.org/glycogene/8701 8701 DNAH11 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | dynein light intermediate chain binding | minus-end-directed microtubule motor activity http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0008569 | | | | http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/29967 29967 LRP12 low-density lipoprotein particle receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0005041 | http://purl.obolibrary.org/obo/GO_0005515 12809483 | 12809483 http://nanbyodata.jp/ontology/NANDO_1200219 NANDO:1200219 指定難病 Designated intractable disease 眼咽頭遠位型ミオパチー Oculopharyngodistal myopathy MONDO:0020793 closeMatch http://glycosmos.org/glycogene/4000 4000 LMNA structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 3453101,8344919 | 25910212 | 10381623,10514485,10727209,11313760,11587540,11801724,14597414,15140953,15161933,15671068,16247757,19323649,19933576,20000738,20467437,20580717,20618440,21346760,21418524,21949239,21988832,21993218,22399800,22555292,23539603,23658700,23977161,24375709,24981860,25399868,25416956,25910212,26524528,29568061,29997244,30021884,30488537,31467278,31515488,31548606,32296183,32814053,33961781,35271311,35311970,37398436 | 2188730,2344612,24741066,37788673,37832547 | http://nanbyodata.jp/ontology/NANDO_2200231 NANDO:2200231 小児慢性特定疾病 Specific pediatric chronic disease 心筋緻密化障害 Non-compaction of the ventricle MONDO:0018901 exactMatch http://glycosmos.org/glycogene/27031 27031 NPHP3 protein binding http://purl.obolibrary.org/obo/GO_0005515 12872122,18371931,22085962,22863007,22960633,23418306,27173435,29959317,33961781 http://nanbyodata.jp/ontology/NANDO_1201049 NANDO:1201049 指定難病 Designated intractable disease セニオール・ローケン症候群 Senior-Loken syndrome MONDO:0017842 exactMatch http://glycosmos.org/glycogene/8799 8799 PEX11B identical protein binding | protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 17408615 | 20826455 | 10704444,12096124,14709540,17408615,18782765,20531392,20826455,25416956,29997244,31467278,32814053,37398436 http://nanbyodata.jp/ontology/NANDO_1200759 NANDO:1200759 指定難病 Designated intractable disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/8504 8504 PEX3 protein binding | lipid binding | protein-macromolecule adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0030674 10704444,11883941,12096124,16189514,16280322,18174172,19715730,21102411,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35271311,37398436,38225382 | 19715730 | http://nanbyodata.jp/ontology/NANDO_1200759 NANDO:1200759 指定難病 Designated intractable disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/8398 8398 PLA2G6 identical protein binding | calcium-independent phospholipase A2 activity | serine hydrolase activity | 1-alkyl-2-acetylglycerophosphocholine esterase activity | lysophospholipase activity | calmodulin binding | hydrolase activity | phospholipase A2 activity | long-chain acyl-CoA hydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0047499 | http://purl.obolibrary.org/obo/GO_0017171 | http://purl.obolibrary.org/obo/GO_0003847 | http://purl.obolibrary.org/obo/GO_0004622 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0004623 | http://purl.obolibrary.org/obo/GO_0052816 | http://purl.obolibrary.org/obo/GO_0005515 32296183 | 15908428,20886109,23533611 | | | 20886109 | | | 9417066 | 20886109 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200537 NANDO:1200537 指定難病 Designated intractable disease 脳内鉄沈着神経変性症2型 Neurodegeneration with brain iron accumulation type 2 MONDO:0024457 exactMatch http://glycosmos.org/glycogene/8575 8575 PRKRA enzyme activator activity | identical protein binding | pre-miRNA binding | siRNA binding | double-stranded RNA binding | enzyme binding | protein homodimerization activity | protein binding | protein kinase activator activity | RNA binding http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070883 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0003723 9687506 | 16169070,21900206,25416956,32296183 | 23661684 | | 23661684 | 23661684 | 17452327 | 16424907,16785445,17452327,18096616,20064372,21516116,21858095,21900206,21903422,21994455,22810585,23455922,23661684,23853584,23870315,25416956,25910212,28591694,31515488,32296183,32707033,33961781,35075101,36217029,36217030 | 29170442 | 22681889 http://nanbyodata.jp/ontology/NANDO_1200529 NANDO:1200529 指定難病 Designated intractable disease DYT16ジストニア Dystonia 16 MONDO:0012789 exactMatch http://glycosmos.org/glycogene/92749 92749 DRC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 34169321 http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/79925 79925 SPEF2 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200203 NANDO:2200203 小児慢性特定疾病 Specific pediatric chronic disease 線毛機能不全症候群 Primary ciliary dyskinesia MONDO:0016575 exactMatch http://glycosmos.org/glycogene/3329 3329 HSPD1 lipopolysaccharide binding | isomerase activity | DNA replication origin binding | double-stranded RNA binding | unfolded protein binding | protein binding | ATP hydrolysis activity | high-density lipoprotein particle binding | ATP binding | ATP-dependent protein folding chaperone | protein-folding chaperone binding | cysteine-type endopeptidase activator activity | ubiquitin protein ligase binding | apolipoprotein A-I binding | enzyme binding | RNA binding | apolipoprotein binding | single-stranded DNA binding | p53 binding http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_0003688 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140662 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140608 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0002039 17164250 | | | 21266579 | 11050098 | 15846844,17110338,17823127,18086682,21516116,21988832,22664726,23349634,23840630,24286120,25416956,25609649,25910212,26618866,26871637,28514442,29568061,29924966,30021884,31515488,32296183,32814053,33961781,35156780,36012204 | | 11027668 | | | 10205158 | 17823127 | 19725078,21753002 | 11027668 | 20507888 | 22658674 | 11027668 | | 18086682 http://nanbyodata.jp/ontology/NANDO_1200581 NANDO:1200581 指定難病 Designated intractable disease HSP60シャペロン病 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_1200096 NANDO:1200096 指定難病 Designated intractable disease ハーラー／シェイエ病 Hurler-Scheie disease MONDO:0011759 exactMatch http://glycosmos.org/glycogene/3596 3596 IL13 cytokine activity | protein binding | interleukin-13 receptor binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005144 8096327 | 18243101,20223216,23972995,27629921,33961781 | http://nanbyodata.jp/ontology/NANDO_2200197 NANDO:2200197 小児慢性特定疾病 Specific pediatric chronic disease 気管支喘息 Bronchial asthma MONDO:0010940 exactMatch http://glycosmos.org/glycogene/2626 2626 GATA4 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | sequence-specific double-stranded DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | NFAT protein binding | DNA-binding transcription factor activity | DNA-binding transcription activator activity | DNA binding | transcription cis-regulatory region binding | protein kinase binding | zinc ion binding | co-SMAD binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0051525 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0070410 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0043565 10075728,12845333,15485867,16199874,17053787,21220346,24000169,35182466,9312027 | 21330551,9858576 | 28473536 | 21330551 | | 9312027 | 29325903 | 24000169 | 9566909 | | | 21330551 | 21220346 | | 21220346,21330551 | http://nanbyodata.jp/ontology/NANDO_2200268 NANDO:2200268 小児慢性特定疾病 Specific pediatric chronic disease 不完全型房室中隔欠損症 Incomplete atrioventricular septal defect MONDO:0015275 exactMatch http://glycosmos.org/glycogene/7092 7092 TLL1 zinc ion binding | serine-type endopeptidase activity | calcium ion binding | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004222 | | | http://nanbyodata.jp/ontology/NANDO_2200266 NANDO:2200266 小児慢性特定疾病 Specific pediatric chronic disease 二次孔型心房中隔欠損症 Atrial septal defect, ostium secundum type MONDO:0020434 exactMatch http://glycosmos.org/glycogene/7026 7026 NR2F2 RNA polymerase II cis-regulatory region sequence-specific DNA binding | zinc ion binding | nuclear receptor activity | protein binding | DNA-binding transcription factor activity | protein homodimerization activity | sequence-specific DNA binding | retinoic acid binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0001972 | | 18798693 | 18798693,18815287,19210544,23201680,28514442,33961781 | 9343308 | 18798693 | 9343308 | 18798693 http://nanbyodata.jp/ontology/NANDO_2200268 NANDO:2200268 小児慢性特定疾病 Specific pediatric chronic disease 不完全型房室中隔欠損症 Incomplete atrioventricular septal defect MONDO:0015275 exactMatch http://glycosmos.org/glycogene/78987 78987 CRELD1 protein disulfide isomerase activity | extracellular matrix structural constituent | calcium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0003756 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | 28675934 | | 20508391,32814053 http://nanbyodata.jp/ontology/NANDO_2200268 NANDO:2200268 小児慢性特定疾病 Specific pediatric chronic disease 不完全型房室中隔欠損症 Incomplete atrioventricular septal defect MONDO:0015275 exactMatch http://glycosmos.org/glycogene/51752 51752 ERAP1 metalloexopeptidase activity | peptide binding | interleukin-6 receptor binding | protein binding | metalloaminopeptidase activity | interleukin-1, type II receptor binding | endopeptidase activity | aminopeptidase activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0008235 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0005138 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070006 | http://purl.obolibrary.org/obo/GO_0005151 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0004177 | http://purl.obolibrary.org/obo/GO_0008270 10220586 | | 12748171 | 15908954,18445477 | | 15691326 | 12436109,12436110,17088086 | 10220586,12748171 | 10220586 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/337867 337867 UBAC2 protein binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 22119785,25416956,28514442,31073040,32814053 | http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_2200460 NANDO:2200460 小児慢性特定疾病 Specific pediatric chronic disease 1型糖尿病 Diabetes mellitus type 1 MONDO:0005147 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/1230 1230 CCR1 C-C chemokine receptor activity | C-C chemokine binding | chemokine receptor activity | phosphatidylinositol phospholipase C activity | protein binding | chemokine (C-C motif) ligand 7 binding | chemokine (C-C motif) ligand 5 binding http://purl.obolibrary.org/obo/GO_0016493 | http://purl.obolibrary.org/obo/GO_0019957 | http://purl.obolibrary.org/obo/GO_0004950 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035717 | http://purl.obolibrary.org/obo/GO_0071791 10734056 | 10660125,15764707,7545673,8699119 | 10660125 | 10734056 | 15001559,15474493,28381538,32296183,33961781,8699119 | 10660125,7545673 | 10660125,10734056,7545673,8699119 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/1027 1027 CDKN1B protein kinase inhibitor activity | protein-containing complex binding | ubiquitin protein ligase binding | cyclin binding | protein-folding chaperone binding | molecular function inhibitor activity | Hsp70 protein binding | protein phosphatase binding | protein binding | protein kinase binding | cyclin-dependent protein serine/threonine kinase inhibitor activity | molecular adaptor activity | ubiquitin ligase activator activity | cyclin-dependent protein kinase activating kinase regulator activity http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0030332 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140678 | http://purl.obolibrary.org/obo/GO_0030544 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0004861 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_1990757 | http://purl.obolibrary.org/obo/GO_0019914 8684460 | 15024385,8684460 | 16209941 | 15024385,24380855 | | 11790096 | | 19838216 | 11961546,12082530,12093740,15024385,15057270,15480426,15652749,15890360,16189514,16209941,16289477,16326706,16431923,17053782,17254966,17254967,17418410,17698606,18177895,18593906,18692475,18805092,19470470,20596027,21423214,21423803,22632967,22770219,23455922,23543736,23602409,23602568,24358021,25241761,25852190,25910212,26496610,26775844,28425505,28514442,29997244,31515488,32296183,32707033,32814053,33961781,34591612,34591642,35271311,8684460,8756624,9106657,9840943 | 15024385 | 10918569,28666995,8033212 | 8684460 | 16209941 | 8684460 http://nanbyodata.jp/ontology/NANDO_2200405 NANDO:2200405 小児慢性特定疾病 Specific pediatric chronic disease 多発性内分泌腫瘍1型 Multiple endocrine neoplasia type 1 MONDO:0007540 exactMatch http://glycosmos.org/glycogene/1373 1373 CPS1 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity | ATP binding | calcium ion binding | metal ion binding | modified amino acid binding | carbamoyl-phosphate synthase (ammonia) activity | small molecule binding | endopeptidase activity | protein-containing complex binding | glutamate binding | protein binding | potassium ion binding | phospholipid binding http://purl.obolibrary.org/obo/GO_0004088 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0072341 | http://purl.obolibrary.org/obo/GO_0004087 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0016595 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0005543 | | | 26592762 | 20031578 | 6249820,8486760,9711878 | 26592762 | | | | 12620389,15161933,20618440 | 26592762 | http://nanbyodata.jp/ontology/NANDO_2200478 NANDO:2200478 小児慢性特定疾病 Specific pediatric chronic disease カルバミルリン酸合成酵素欠損症 Carbamoylphosphate synthetase deficiency MONDO:0009376 exactMatch http://glycosmos.org/glycogene/1374 1374 CPT1A protein-macromolecule adaptor activity | identical protein binding | carnitine O-palmitoyltransferase activity http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004095 38016475 | | 11350182,14517221,7892212,9691089 http://nanbyodata.jp/ontology/NANDO_2200509 NANDO:2200509 小児慢性特定疾病 Specific pediatric chronic disease カルニチンパルミトイルトランスフェラーゼI欠損症 Carnitine palmitoyltransferase I deficiency MONDO:0009705 exactMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_2200335 NANDO:2200335 小児慢性特定疾病 Specific pediatric chronic disease 橋本病 Hashimoto disease MONDO:0007699 exactMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1584 1584 CYP11B1 corticosterone 18-monooxygenase activity | iron ion binding | steroid 11-beta-monooxygenase activity | heme binding http://purl.obolibrary.org/obo/GO_0047783 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0004507 | http://purl.obolibrary.org/obo/GO_0020037 | | 2022736,2256920,8506298 | 2256920 http://nanbyodata.jp/ontology/NANDO_2200372 NANDO:2200372 小児慢性特定疾病 Specific pediatric chronic disease 11β-水酸化酵素欠損症 11-β-Hydroxylase deficiency MONDO:0008729 exactMatch http://glycosmos.org/glycogene/1586 1586 CYP17A1 iron ion binding | estrogen 16-alpha-hydroxylase activity | steroid 17-alpha-monooxygenase activity | heme binding | oxygen binding | lyase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0101020 | http://purl.obolibrary.org/obo/GO_0004508 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0016829 | | 22170710,22266943,24140098,36640554 | 22266943 | 2808364 | http://nanbyodata.jp/ontology/NANDO_2200373 NANDO:2200373 小児慢性特定疾病 Specific pediatric chronic disease 17α-水酸化酵素欠損症 17 alpha-hydroxylase deficiency MONDO:0008730 exactMatch http://glycosmos.org/glycogene/1589 1589 CYP21A2 steroid hydroxylase activity | iron ion binding | heme binding | progesterone 21-hydroxylase activity | 17-hydroxyprogesterone 21-hydroxylase activity | steroid binding | steroid 21-monooxygenase activity http://purl.obolibrary.org/obo/GO_0008395 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0106309 | http://purl.obolibrary.org/obo/GO_0103069 | http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0004509 16984992 | | 25855791 | 25855791 | 25855791 | | http://nanbyodata.jp/ontology/NANDO_2200374 NANDO:2200374 小児慢性特定疾病 Specific pediatric chronic disease 21-水酸化酵素欠損症 21-Hydroxylase deficiency MONDO:0008728 exactMatch http://glycosmos.org/glycogene/1621 1621 DBH copper ion binding | protein binding | catalytic activity | dopamine beta-monooxygenase activity | L-ascorbic acid binding http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003824 | http://purl.obolibrary.org/obo/GO_0004500 | http://purl.obolibrary.org/obo/GO_0031418 27152332,7961964 | 26199316,32296183,32814053 | 3443096 | 3443096,7961964 | http://nanbyodata.jp/ontology/NANDO_2200597 NANDO:2200597 小児慢性特定疾病 Specific pediatric chronic disease ドーパミンβ-水酸化酵素欠損症 Dopamine beta hydroxylase deficiency MONDO:0009123 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_2200473 NANDO:2200473 小児慢性特定疾病 Specific pediatric chronic disease メープルシロップ尿症 Maple syrup urine disease MONDO:0009563 exactMatch http://glycosmos.org/glycogene/340024 340024 SLC6A19 protein binding | neutral L-amino acid transmembrane transporter activity | amino acid transmembrane transporter activity | symporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015175 | http://purl.obolibrary.org/obo/GO_0015171 | http://purl.obolibrary.org/obo/GO_0015293 19185582,32132184,34189428 | 18424768 | | http://nanbyodata.jp/ontology/NANDO_2200487 NANDO:2200487 小児慢性特定疾病 Specific pediatric chronic disease ハートナップ病 Hartnup disease MONDO:0009324 exactMatch http://glycosmos.org/glycogene/1773 1773 DNASE1 protein binding | deoxyribonuclease I activity | DNA binding | actin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004530 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003779 12849983 | | | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/1893 1893 ECM1 extracellular matrix structural constituent | interleukin-2 receptor binding | protein binding | protease binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005134 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 25037231,27068509 | | 12604605,19275936,20870722,32296183 | 16512877 http://nanbyodata.jp/ontology/NANDO_2200608 NANDO:2200608 小児慢性特定疾病 Specific pediatric chronic disease リポイドタンパク症 Lipoid proteinosis MONDO:0009530 exactMatch http://glycosmos.org/glycogene/3651 3651 PDX1 DNA-binding transcription factor activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0044877 | | 17941991 | 28473536 | | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/3654 3654 IRAK1 protein kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | histone H3T6 kinase activity | histone H3T11 kinase activity | protein kinase binding | heat shock protein binding | histone H2AS1 kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | histone H2BS36 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS14 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | identical protein binding | histone H4S1 kinase activity | protein binding | histone H3T3 kinase activity | protein homodimerization activity | histone H3T45 kinase activity | DNA-dependent protein kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H3S28 kinase activity | kinase activity | histone H3S57 kinase activity | protein heterodimerization activity | AMP-activated protein kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0005524 12054681 | | | | | 33238146 | | | 11397809,11960013 | | | | | | | 11397809 | | 10854325,11397809,11518704,12242293,12496252,12860405,12874243,12925853,16203735,16831874,16884718,17567694,19081057,19264966,21743479,21903422,22037600,26752465,28436939,29883609,33673546,33961781 | | 10383454 | | | | | | | 12054681 | | 10383454 | | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3663 3663 IRF5 sequence-specific DNA binding | protein kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding | identical protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0120283 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000978 23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3667 3667 IRS1 signaling receptor complex adaptor activity | SH2 domain binding | protein binding | signaling adaptor activity | insulin receptor binding | insulin-like growth factor receptor binding | transmembrane receptor protein tyrosine kinase adaptor activity | phosphatidylinositol 3-kinase binding | protein kinase C binding | phosphotyrosine residue binding http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0005068 | http://purl.obolibrary.org/obo/GO_0043548 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0001784 7493946 | | 11018022,11403293,11416002,11694516,14632132,15778465,16230374,16273093,16582879,18498745,18952604,23643389,23770097,24008843,25814554,34591612,34591642,36931259,7513703,7542742,7559478,7680095,7680644,7935368,8382612,8388384,9295312 | 16878150,7493946 | 7493946,7537849 | 7541045 | | 16043515,7782332 | | 20624904 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/3684 3684 ITGAM cargo receptor activity | heat shock protein binding | metal ion binding | complement component C3b binding | amyloid-beta binding | integrin binding | protein binding http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005515 | 12496435 | | | | 20199584 | 12208882,15004192,15194813,16246332,21193407,28939773,32296183,38730209 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3710 3710 ITPR3 phosphatidylinositol binding | inositol 1,3,4,5 tetrakisphosphate binding | calcium ion binding | inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | protein binding | ATP binding | inositol 1,4,5 trisphosphate binding | calcium-release channel activity | zinc ion binding | inositol hexakisphosphate binding http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0043533 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005220 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0070679 | http://purl.obolibrary.org/obo/GO_0015278 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000822 | | 37898605 | 10828023,30013099,37898605 | 10611319,19052258,19553469,21062895,25996873,28614305 | 37898605 | 8288584 | | 37898605 | http://nanbyodata.jp/ontology/NANDO_2200460 NANDO:2200460 小児慢性特定疾病 Specific pediatric chronic disease 1型糖尿病 Diabetes mellitus type 1 MONDO:0005147 exactMatch http://glycosmos.org/glycogene/3767 3767 KCNJ11 ATP-activated inward rectifier potassium channel activity | potassium ion binding | ankyrin binding | transmembrane transporter binding | ATP binding | ATPase-coupled monoatomic cation transmembrane transporter activity | protein binding | heat shock protein binding | voltage-gated potassium channel activity | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0099508 28842488 | 8923010 | 20610380 | 20610380 | 12860923 | | 19805355,32296183 | | 19805355 | 18945825 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/3949 3949 LDLR amyloid-beta binding | low-density lipoprotein particle receptor activity | molecular adaptor activity | low-density lipoprotein particle binding | very-low-density lipoprotein particle receptor activity | protease binding | identical protein binding | clathrin heavy chain binding | lipoprotein particle binding | protein binding | calcium ion binding | virus receptor activity http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005041 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0030229 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0032050 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001618 | 20005821,22848640,6091915,6299582,8626535 | 22091758 | 6299582 | 8626535 | 22081141,22848640 | 26526611 | 12121421 | | 10571240,12221107,17452316,17461796,18250299,18753623,20030366,20223219,22081141,22509010,23589850,24447298,25613181,28514442,30443021,32296183,33420426,33961781 | | http://nanbyodata.jp/ontology/NANDO_2200602 NANDO:2200602 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0007750 closeMatch http://glycosmos.org/glycogene/3990 3990 LIPC phospholipase activity | carboxylic ester hydrolase activity | triglyceride lipase activity | 1-acyl-2-lysophosphatidylserine acylhydrolase activity | low-density lipoprotein particle binding | phospholipase A1 activity | heparin binding | lipoprotein lipase activity | apolipoprotein binding | phosphatidylserine 1-acylhydrolase activity | lysophospholipase activity | protein binding http://purl.obolibrary.org/obo/GO_0004620 | http://purl.obolibrary.org/obo/GO_0052689 | http://purl.obolibrary.org/obo/GO_0004806 | http://purl.obolibrary.org/obo/GO_0052740 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0008970 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004465 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0052739 | http://purl.obolibrary.org/obo/GO_0004622 | http://purl.obolibrary.org/obo/GO_0005515 3244012 | | 12032167,182536,26193433,2839510,7592706,8798474 | | | 12032167,26193433,7592706 | | | | | | 14967812 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/34 34 ACADM flavin adenine dinucleotide binding | acyl-CoA dehydrogenase activity | identical protein binding | medium-chain-acyl-CoA dehydrogenase activity http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0003995 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070991 | 19224950,2393404 | 19224950,37257730 | 1902818,19224950,1970566,3597357 http://nanbyodata.jp/ontology/NANDO_2200513 NANDO:2200513 小児慢性特定疾病 Specific pediatric chronic disease 中鎖アシルCoA脱水素酵素欠損症 Medium-chain acyl-CoA dehydrogenase deficiency MONDO:0008721 exactMatch http://glycosmos.org/glycogene/35 35 ACADS acyl-CoA dehydrogenase activity | short-chain-acyl-CoA dehydrogenase activity | flavin adenine dinucleotide binding | protein binding http://purl.obolibrary.org/obo/GO_0003995 | http://purl.obolibrary.org/obo/GO_0016937 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 11134486,3597357 | | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2200514 NANDO:2200514 小児慢性特定疾病 Specific pediatric chronic disease 短鎖アシルCoA脱水素酵素欠損症 Short-chain acyl-CoA dehydrogenase deficiency MONDO:0008722 exactMatch http://glycosmos.org/glycogene/37 37 ACADVL fatty-acyl-CoA binding | acyl-CoA dehydrogenase activity | identical protein binding | protein binding | flavin adenine dinucleotide binding | long-chain-acyl-CoA dehydrogenase activity | very-long-chain-acyl-CoA dehydrogenase activity http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0003995 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0004466 | http://purl.obolibrary.org/obo/GO_0017099 | 9461620,9599005 | 9461620,9599005 | 32296183 | 9461620 | 7668252 | 9461620 http://nanbyodata.jp/ontology/NANDO_2200512 NANDO:2200512 小児慢性特定疾病 Specific pediatric chronic disease 極長鎖アシルCoA脱水素酵素欠損症 Very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 exactMatch http://glycosmos.org/glycogene/38 38 ACAT1 coenzyme A binding | C-acetyltransferase activity | cholesterol O-acyltransferase activity | identical protein binding | potassium ion binding | enzyme binding | acetyl-CoA C-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0120225 | http://purl.obolibrary.org/obo/GO_0016453 | http://purl.obolibrary.org/obo/GO_0034736 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003985 | 17371050 | 32944968 | | 17371050 | | 17371050,1979337,8103405 http://nanbyodata.jp/ontology/NANDO_2200493 NANDO:2200493 小児慢性特定疾病 Specific pediatric chronic disease β-ケトチオラーゼ欠損症 Beta-ketothiolase deficiency MONDO:0008760 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/6927 6927 HNF1A transcription cis-regulatory region binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | protein dimerization activity | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_2200460 NANDO:2200460 小児慢性特定疾病 Specific pediatric chronic disease 1型糖尿病 Diabetes mellitus type 1 MONDO:0005147 exactMatch http://glycosmos.org/glycogene/6927 6927 HNF1A transcription cis-regulatory region binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | protein dimerization activity | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/2006 2006 ELN extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0005515 27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771 http://nanbyodata.jp/ontology/NANDO_2200285 NANDO:2200285 小児慢性特定疾病 Specific pediatric chronic disease 大動脈弁上狭窄症 Supravalvular aortic stenosis MONDO:0008504 exactMatch http://glycosmos.org/glycogene/2006 2006 ELN extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0005515 27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771 http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/2053 2053 EPHX2 10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity | epoxide hydrolase activity | protein homodimerization activity | magnesium ion binding | lysophosphatidic acid phosphatase activity | phosphatase activity | toxic substance binding | lipid phosphatase activity http://purl.obolibrary.org/obo/GO_0033885 | http://purl.obolibrary.org/obo/GO_0004301 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0052642 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0015643 | http://purl.obolibrary.org/obo/GO_0042577 | 10862610,21217101,22798687,8342951 | 15096040,18513744 | 12574510 | 22217705,22387545 | 12574508,15196990,24681163 | 15096040 | 12574510 http://nanbyodata.jp/ontology/NANDO_2200602 NANDO:2200602 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0007750 closeMatch http://glycosmos.org/glycogene/2109 2109 ETFB electron transfer activity | protein binding http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515 25416781 | 27499296,33961781 http://nanbyodata.jp/ontology/NANDO_2200502 NANDO:2200502 小児慢性特定疾病 Specific pediatric chronic disease グルタル酸血症2型 Glutaric acidemia type 2 MONDO:0009282 exactMatch http://glycosmos.org/glycogene/2203 2203 FBP1 protein binding | monosaccharide binding | AMP binding | metal ion binding | identical protein binding | fructose 1,6-bisphosphate 1-phosphatase activity | RNA polymerase II-specific DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048029 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042132 | http://purl.obolibrary.org/obo/GO_0061629 10222032,16189514,16275660,25043030,25416956,25910212,28514442,31515488,32296183,32814053,33961781,8387495 | | 10222032,18650089,8387495 | 8387495 | 16169070,16189514,16442285,18650089,21516116,25416956,25502805,25910212,31515488,32296183 | 16442285,18650089,19259699,20096900,7558035,8387495 | 25043030 http://nanbyodata.jp/ontology/NANDO_2200535 NANDO:2200535 小児慢性特定疾病 Specific pediatric chronic disease フルクトース-1,6-ビスホスファターゼ欠損症 Fructose-1,6-bisphosphatase deficiency MONDO:0009251 exactMatch http://glycosmos.org/glycogene/2212 2212 FCGR2A IgG binding | protein binding | IgG receptor activity http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770 | 25416956,32296183 | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2213 2213 FCGR2B protein binding | amyloid-beta binding | protein-containing complex binding | IgG binding | IgG receptor activity | low-affinity IgG receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019772 10382761,11567028,17474147,24642916,32814053,8577729,9148918,9603468 | 23921129,26871627 | 23921129 | 2142460 | | 2142460 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2215 2215 FCGR3B IgG receptor activity | IgG binding | GPI anchor binding http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0034235 | | 1825220 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/2492 2492 FSHR protein binding | G protein-coupled peptide receptor activity | follicle-stimulating hormone receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008528 | http://purl.obolibrary.org/obo/GO_0004963 15196694,17030088,20600589 | | 11847099,24692546 http://nanbyodata.jp/ontology/NANDO_2200384 NANDO:2200384 小児慢性特定疾病 Specific pediatric chronic disease 卵巣形成不全 Ovarian dysgenesis MONDO:0009299 exactMatch http://glycosmos.org/glycogene/2517 2517 FUCA1 protein binding | alpha-L-fucosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004560 32296183 | 11698403,19666478 http://nanbyodata.jp/ontology/NANDO_2200553 NANDO:2200553 小児慢性特定疾病 Specific pediatric chronic disease フコシドーシス Fucosidosis MONDO:0009254 exactMatch http://glycosmos.org/glycogene/2548 2548 GAA carbohydrate binding | alpha-glucosidase activity | alpha-1,4-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0004558 | 5264799 | 29061980,9505277 http://nanbyodata.jp/ontology/NANDO_2200569 NANDO:2200569 小児慢性特定疾病 Specific pediatric chronic disease ポンペ病 Pompe disease MONDO:0009290 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_2200564 NANDO:2200564 小児慢性特定疾病 Specific pediatric chronic disease クラッベ病 Krabbe disease MONDO:0009499 exactMatch http://glycosmos.org/glycogene/2582 2582 GALE identical protein binding | protein homodimerization activity | UDP-glucose 4-epimerase activity | UDP-N-acetylglucosamine 4-epimerase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003978 | http://purl.obolibrary.org/obo/GO_0003974 16189514,25416956,25502805,31515488,32296183 | 16302980 | 16302980 | http://nanbyodata.jp/ontology/NANDO_2200534 NANDO:2200534 小児慢性特定疾病 Specific pediatric chronic disease ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症 UDP-galactose-4-epimerase deficiency MONDO:0009257 exactMatch http://glycosmos.org/glycogene/2584 2584 GALK1 galactose binding | ATP binding | galactokinase activity | protein binding http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004335 | http://purl.obolibrary.org/obo/GO_0005515 14596685 | 12694189 | 12694189,7542884 | 32296183 http://nanbyodata.jp/ontology/NANDO_2200533 NANDO:2200533 小児慢性特定疾病 Specific pediatric chronic disease ガラクトキナーゼ欠損症 Galactokinase deficiency MONDO:0009255 exactMatch http://glycosmos.org/glycogene/2592 2592 GALT zinc ion binding | UDP-glucose:hexose-1-phosphate uridylyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008108 | http://purl.obolibrary.org/obo/GO_0005515 27005423 | 1897530,27005423 | 16189514,25416956,25910212,26871637,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200532 NANDO:2200532 小児慢性特定疾病 Specific pediatric chronic disease ガラクトース-1-リン酸ウリジルトランスフェラーゼ欠損症 Galactose-1-phosphate uridyltransferase deficiency MONDO:0009258 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2200540 NANDO:2200540 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IV型 Glycogen storage disease type IV MONDO:0009292 exactMatch http://glycosmos.org/glycogene/2639 2639 GCDH glutaryl-CoA dehydrogenase activity | fatty-acyl-CoA binding | flavin adenine dinucleotide binding http://purl.obolibrary.org/obo/GO_0004361 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0050660 8541831 | | http://nanbyodata.jp/ontology/NANDO_2200501 NANDO:2200501 小児慢性特定疾病 Specific pediatric chronic disease グルタル酸血症1型 Glutaric acidemia type 1 MONDO:0009281 exactMatch http://glycosmos.org/glycogene/2645 2645 GCK mannokinase activity | glucose binding | glucokinase activity | glucose sensor activity | ATP binding | fructokinase activity | protein binding http://purl.obolibrary.org/obo/GO_0019158 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0004340 | http://purl.obolibrary.org/obo/GO_0141089 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008865 | http://purl.obolibrary.org/obo/GO_0005515 | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/2690 2690 GHR protein binding | growth factor binding | proline-rich region binding | cytokine binding | protein phosphatase binding | growth hormone receptor activity | protein homodimerization activity | identical protein binding | lipid binding | peptide hormone binding | SH2 domain binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0004903 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0019901 10502458,10866662,12907755,17474147,19167335,25241761,31279174,8943276,9353194 | 9360546 | 2825030 | | | 1549776,2825030,8943276 | 1549776,8137822,8943276 | 16116438 | 25846210 | 1549776,2825030,8943276,9571026 | | http://nanbyodata.jp/ontology/NANDO_2200602 NANDO:2200602 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0007750 closeMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_2200353 NANDO:2200353 小児慢性特定疾病 Specific pediatric chronic disease 副腎皮質結節性過形成 ACTH-independent macronodular adrenal hyperplasia MONDO:0009049 exactMatch http://glycosmos.org/glycogene/2820 2820 GPD2 calcium ion binding | glycerol-3-phosphate dehydrogenase (quinone) activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004368 | 9070847 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/2969 2969 GTF2I DNA-binding transcription factor activity | protein binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II-specific DNA-binding transcription factor binding | DNA binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003677 | 19214191,21407215,24722188,32296183,9012831 | 23229069 | 9334314 | 9334314 | http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/2990 2990 GUSB carbohydrate binding | signaling receptor binding | beta-glucuronidase activity | protein domain specific binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004566 | http://purl.obolibrary.org/obo/GO_0019904 | 20028034 | | 20028034 http://nanbyodata.jp/ontology/NANDO_2200552 NANDO:2200552 小児慢性特定疾病 Specific pediatric chronic disease ムコ多糖症VII型 Mucopolysaccharidosis type VII MONDO:0009662 exactMatch http://glycosmos.org/glycogene/2998 2998 GYS2 glycogen (starch) synthase activity | glycogen synthase activity, transferring glucose-1-phosphate http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0061547 1731614,9691087 | http://nanbyodata.jp/ontology/NANDO_2200537 NANDO:2200537 小児慢性特定疾病 Specific pediatric chronic disease グリコーゲン合成酵素欠損症 Glycogen synthase deficiency MONDO:0009414 closeMatch http://glycosmos.org/glycogene/6833 6833 ABCC8 ATPase-coupled monoatomic cation transmembrane transporter activity | metal ion binding | potassium channel activity | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ATP-activated inward rectifier potassium channel activity | ATP binding | ADP binding | ABC-type transporter activity | sulfonylurea receptor activity | transmembrane transporter binding | protein binding http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0008281 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/4210 4210 MEFV zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/4544 4544 MTNR1B melatonin receptor activity | protein binding | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0008502 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004930 | 20859254,25770211,26514267,28827538 | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/4942 4942 OAT ornithine aminotransferase activity | pyridoxal phosphate binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0004587 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 1737786,23076989 | | 23076989 | 32814053 http://nanbyodata.jp/ontology/NANDO_2200484 NANDO:2200484 小児慢性特定疾病 Specific pediatric chronic disease 高オルニチン血症 Hyperornithinemia MONDO:0009796 closeMatch http://glycosmos.org/glycogene/9210 9210 BMP15 cytokine activity | protein binding | growth factor activity http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008083 | 33961781 | http://nanbyodata.jp/ontology/NANDO_2200384 NANDO:2200384 小児慢性特定疾病 Specific pediatric chronic disease 卵巣形成不全 Ovarian dysgenesis MONDO:0009299 exactMatch http://glycosmos.org/glycogene/9056 9056 SLC7A7 protein binding | L-arginine transmembrane transporter activity | basic amino acid transmembrane transporter activity | L-amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061459 | http://purl.obolibrary.org/obo/GO_0015174 | http://purl.obolibrary.org/obo/GO_0015179 9878049 | | | http://nanbyodata.jp/ontology/NANDO_2200488 NANDO:2200488 小児慢性特定疾病 Specific pediatric chronic disease リジン尿性蛋白不耐症 Lysinuric protein intolerance MONDO:0009109 exactMatch http://glycosmos.org/glycogene/7018 7018 TF ferric iron binding | transferrin receptor binding | transmembrane transporter binding | ferrous iron binding | enzyme binding | protein binding | iron chaperone activity http://purl.obolibrary.org/obo/GO_0008199 | http://purl.obolibrary.org/obo/GO_1990459 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0008198 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034986 | 18353247,29388418,9465039,9546397 | 37277838 | 18353247 | 37277838 | 14691533,15880641,16271884,16354665,19664057,20404192,21788477,22327295,22343719,29302006,32296183 | 18353247 http://nanbyodata.jp/ontology/NANDO_2200617 NANDO:2200617 小児慢性特定疾病 Specific pediatric chronic disease 無トランスフェリン血症 Congenital atransferrinemia MONDO:0008846 exactMatch http://glycosmos.org/glycogene/7099 7099 TLR4 signaling receptor binding | identical protein binding | NAD+ nucleotidase, cyclic ADP-ribose generating | lipopolysaccharide immune receptor activity | protein heterodimerization activity | amyloid-beta binding | lipopolysaccharide binding | signaling receptor activity | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061809 | http://purl.obolibrary.org/obo/GO_0001875 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 20037584 | 23059983,23155421,31319868 | | 19252480 | 20037584 | 20037584 | 10835634,16514062 | 15618008,16751103,18222170 | 11970998,15618008 | 11441107,11544529,12925853,15356101,15728506,16622205,17064675,17126326,17258210,17803912,19060881,19252480,19509286,20037584,20547845,21383675,21829704,21903422,22474354,22532668,25187624,29150600,29190778,36232715 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/7128 7128 TNFAIP3 identical protein binding | kinase binding | K63-linked polyubiquitin modification-dependent protein binding | protease binding | ubiquitin-protein transferase activity | DNA binding | protein binding | ubiquitin binding | K63-linked deubiquitinase activity | zinc ion binding | cysteine-type deubiquitinase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0070530 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0061578 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004843 25416956,25502805,30561431,31515488,32296183 | | | 18223652 | 15258597 | | 11463333,15142865,15169888,15231748,15474016,19060883,19131965,20392859,20936779,21988832,23032186,25416956,30561431,31015422,31515488,32296183,33961781,36931259,9299557 | 19285159 | 14748687 | | 15258597,20392859,23827681 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/7132 7132 TNFRSF1A signaling receptor activity | tumor necrosis factor receptor activity | tumor necrosis factor binding | protein binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0043120 | http://purl.obolibrary.org/obo/GO_0005515 | 2158863,26183779 | 9435233 | 10848577,11684708,12887920,14743216,15465831,16611992,18022363,19524513,19641494,19781631,20080539,20103630,22028622,22817896,23955153,24070898,24130170,24440909,25241761,25911380,2848815,33961781,7758105,8565075,8943045,8985253,9115275 http://nanbyodata.jp/ontology/NANDO_2200433 NANDO:2200433 小児慢性特定疾病 Specific pediatric chronic disease TNF受容体関連周期性症候群 TNF receptor-associated periodic fever syndrome MONDO:0007727 exactMatch http://glycosmos.org/glycogene/355 355 FAS calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 24914971 | 21382479,7536190,7538908 | 12221075 | 7533181 | 7538908 | 10918185,11003656,11495919,11606059,12724420,12887920,15465831,15917238,16498403,17047155,17159907,18328427,18846110,19118384,20935634,20956295,21109225,21382479,21625644,21713032,21803845,25241761,26942442,33961781,7536190,7538907 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/7292 7292 TNFSF4 protein binding | tumor necrosis factor receptor binding | cytokine activity | signaling receptor binding | tumor necrosis factor receptor superfamily binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0032813 16905106 | | | 7913952 | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/9101 9101 USP8 SH3 domain binding | cysteine-type deubiquitinase activity | protein binding | K48-linked deubiquitinase activity | cadherin binding | cysteine-type endopeptidase activity | K63-linked deubiquitinase activity http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990380 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004197 | http://purl.obolibrary.org/obo/GO_0061578 | 16520378,18388320,18728397,27444016 | 15161933,15778465,17711858,18329369,19302785,19427866,24378640,28514442,33961781,35271311,36931259 | 16520378 | 25468996 | 9827704 | 16520378 http://nanbyodata.jp/ontology/NANDO_2200350 NANDO:2200350 小児慢性特定疾病 Specific pediatric chronic disease クッシング病 Cushing disease MONDO:0009050 exactMatch http://glycosmos.org/glycogene/9103 9103 FCGR2C IgG receptor activity | IgG binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 | | 2531080 | 17474147,17785206 http://nanbyodata.jp/ontology/NANDO_2200645 NANDO:2200645 小児慢性特定疾病 Specific pediatric chronic disease 免疫性血小板減少性紫斑病 Immune thrombocytopenic purpura MONDO:0008558 exactMatch http://glycosmos.org/glycogene/55630 55630 SLC39A4 monoatomic cation:bicarbonate symporter activity | metal ion binding | zinc ion binding | identical protein binding | zinc ion sequestering activity | zinc ion sensor activity | zinc ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0140410 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140486 | http://purl.obolibrary.org/obo/GO_0106219 | http://purl.obolibrary.org/obo/GO_0005385 | 30793391 | 25882556 | 30874431 | 25882556,30793391 | 32348750 | 22242765,31164399 http://nanbyodata.jp/ontology/NANDO_2200584 NANDO:2200584 小児慢性特定疾病 Specific pediatric chronic disease 先天性腸性肢端皮膚炎 Acrodermatitis enteropathica MONDO:0008713 exactMatch http://glycosmos.org/glycogene/149233 149233 IL23R interleukin-12 receptor binding | peptide hormone binding | cytokine receptor activity | protein binding | cytokine binding | prolactin receptor activity | interleukin-23 binding | interleukin-23 receptor activity http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004925 | http://purl.obolibrary.org/obo/GO_0042019 | http://purl.obolibrary.org/obo/GO_0042020 12023369 | | 29287995 | 12023369,25416956 | | | 12023369 | 12023369 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/57393 57393 CLTRN protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 22628310 | 16330323,32296183 http://nanbyodata.jp/ontology/NANDO_2200487 NANDO:2200487 小児慢性特定疾病 Specific pediatric chronic disease ハートナップ病 Hartnup disease MONDO:0009324 exactMatch http://glycosmos.org/glycogene/79158 79158 GNPTAB protein binding | calcium ion binding | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003976 25416956,26385638,28514442,33961781,36074821 | | 19955174,23733939,25505245,25788519 http://nanbyodata.jp/ontology/NANDO_2200567 NANDO:2200567 小児慢性特定疾病 Specific pediatric chronic disease ムコリピドーシスII型 Mucolipidosis II MONDO:0009650 exactMatch http://glycosmos.org/glycogene/57122 57122 NUP107 protein binding | structural constituent of nuclear pore http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017056 11564755,15146057,17363900,24407287,26411495,26496610,27194810,30179222,33961781,35271311 | 11684705,15229283 http://nanbyodata.jp/ontology/NANDO_2200384 NANDO:2200384 小児慢性特定疾病 Specific pediatric chronic disease 卵巣形成不全 Ovarian dysgenesis MONDO:0009299 exactMatch http://glycosmos.org/glycogene/113235 113235 SLC46A1 symporter activity | folic acid:proton symporter activity | folic acid binding | methotrexate transmembrane transporter activity | proton transmembrane transporter activity | folic acid transmembrane transporter activity | heme transmembrane transporter activity | transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015293 | http://purl.obolibrary.org/obo/GO_0140211 | http://purl.obolibrary.org/obo/GO_0005542 | http://purl.obolibrary.org/obo/GO_0015350 | http://purl.obolibrary.org/obo/GO_0015078 | http://purl.obolibrary.org/obo/GO_0008517 | http://purl.obolibrary.org/obo/GO_0015232 | http://purl.obolibrary.org/obo/GO_0022857 17475902 | 19389703,19762432,34040256 | | | 17129779 | 17129779,17475902,19762432,29344585,32893190,34619546 | 17129779 | http://nanbyodata.jp/ontology/NANDO_2200592 NANDO:2200592 小児慢性特定疾病 Specific pediatric chronic disease 先天性葉酸吸収不全症 Hereditary folate malabsorption MONDO:0009238 exactMatch http://glycosmos.org/glycogene/175 175 AGA protein binding | peptidase activity | N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0003948 32296183,32814053 | | 1281977,1904874 http://nanbyodata.jp/ontology/NANDO_2200555 NANDO:2200555 小児慢性特定疾病 Specific pediatric chronic disease アスパルチルグルコサミン尿症 Aspartylglucosaminuria MONDO:0008830 exactMatch http://glycosmos.org/glycogene/178 178 AGL 4-alpha-glucanotransferase activity | glycogen debranching enzyme activity | protein binding | polyubiquitin modification-dependent protein binding | polysaccharide binding | amylo-alpha-1,6-glucosidase activity http://purl.obolibrary.org/obo/GO_0004134 | http://purl.obolibrary.org/obo/GO_0004133 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0004135 2961257 | | 17908927,24837458 | | | 2961257 http://nanbyodata.jp/ontology/NANDO_2200539 NANDO:2200539 小児慢性特定疾病 Specific pediatric chronic disease 糖原病III型 Glycogen storage disease type III MONDO:0009291 exactMatch http://glycosmos.org/glycogene/208 208 AKT2 histone H2AS121 kinase activity | histone H3S28 kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | histone H3T45 kinase activity | DNA-dependent protein kinase activity | ribosomal protein S6 kinase activity | histone H3T11 kinase activity | histone H2AXS139 kinase activity | metal ion binding | histone H2AT120 kinase activity | molecular function activator activity | eukaryotic translation initiation factor 2alpha kinase activity | AMP-activated protein kinase activity | histone H4S1 kinase activity | histone H2BS14 kinase activity | protein serine/threonine kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S57 kinase activity | Rho-dependent protein serine/threonine kinase activity | protein binding | histone H3T3 kinase activity | histone H3T6 kinase activity | histone H3S10 kinase activity | ATP binding | protein serine kinase activity http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | | | | | | | | | | | 12517337 | | | | | 10983986,16540465,21432781,23444369 | | | | 10490823,10983986,12434148,16417406,16792529,17030088,19713527,20059950,20856200,21291857,21737686,22939624,23444369,23823123,27505672,28514442,32296183,33961781 | | | | 16540465 | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/229 229 ALDOB cytoskeletal protein binding | protein binding | ATPase binding | identical protein binding | fructose binding | molecular adaptor activity | fructose-1-phosphate aldolase activity | fructose-bisphosphate aldolase activity http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070061 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0061609 | http://purl.obolibrary.org/obo/GO_0004332 9244396 | 18000879,21988832,33961781,35122041 | 17576770 | 10625657 | 10625657 | 35122041 | 10970798,2649152 | 10625657,10970798,17576770,35122041,9244396 http://nanbyodata.jp/ontology/NANDO_2200531 NANDO:2200531 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性フルクトース不耐症 Hereditary fructose intolerance MONDO:0009249 exactMatch http://glycosmos.org/glycogene/9569 9569 GTF2IRD1 DNA-binding transcription factor activity | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 10575229 | 26275350,32296183 | 9774679 | 23229069,9774679 | 11438732 http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/336 336 APOA2 heat shock protein binding | high-density lipoprotein particle binding | protein heterodimerization activity | receptor ligand activity | phospholipid binding | lipid binding | lipid transporter activity | phosphatidylcholine binding | lipase inhibitor activity | apolipoprotein receptor binding | high-density lipoprotein particle receptor binding | phosphatidylcholine-sterol O-acyltransferase activator activity | signaling receptor binding | cholesterol binding | cholesterol transfer activity | protein homodimerization activity | protein binding | enzyme binding http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0055102 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0070653 | http://purl.obolibrary.org/obo/GO_0060228 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019899 11027668 | | 7918467,8245722 | 27477018 | 218942 | 14967812 | 1606170 | 17264082 | 14967812 | 11162594 | 10764676 | 14967812 | 27477018 | 218942 | 9651324 | 17264082 | 11991719,14967812,17786215,25416956,29892012,32296183 | 14967812 http://nanbyodata.jp/ontology/NANDO_2200602 NANDO:2200602 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症 Familial hypercholesterolemia MONDO:0007750 closeMatch http://glycosmos.org/glycogene/9479 9479 MAPK8IP1 MAP-kinase scaffold activity | kinesin binding | protein binding | JUN kinase binding | protein kinase inhibitor activity http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0019894 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008432 | http://purl.obolibrary.org/obo/GO_0004860 11238452 | 11238452 | 11517249,11724784,11726277,16273093,16840345,17709393,18286207,31413325,31980649,33961781,35914814 | | 9933567 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/9031 9031 BAZ1B histone binding | non-membrane spanning protein tyrosine kinase activity | histone kinase activity | zinc ion binding | protein binding | ATP binding | histone H2AXY142 kinase activity http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0035173 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140801 | | | 11124022 | 11980720,15543136,16514417,30021884,33961781,35271311 | | 19092802 http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/26608 26608 TBL2 protein binding | phosphoprotein binding | protein kinase binding | translation initiation factor binding | RNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0003723 20562859,33961781 | 25393282 | 25393282 | 25393282 | 22658674 http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/7372 7372 UMPS orotate phosphoribosyltransferase activity | identical protein binding | orotidine-5'-phosphate decarboxylase activity | protein binding http://purl.obolibrary.org/obo/GO_0004588 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004590 | http://purl.obolibrary.org/obo/GO_0005515 11730338,6893554,9042911 | 18184586 | 11730338,18184586,6893554,9042911 | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2200590 NANDO:2200590 小児慢性特定疾病 Specific pediatric chronic disease オロト酸尿症 Orotic aciduria MONDO:0009797 exactMatch http://glycosmos.org/glycogene/51085 51085 MLXIPL RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | carbohydrate response element binding | DNA-binding transcription activator activity | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0035538 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 11230181 | | 10780788,11230181 | 18591247 | 21084751 | | 11230181 | | 21084751 | | 10780788 | 11230181 http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/7466 7466 WFS1 calmodulin binding | calcium-dependent protein binding | ubiquitin protein ligase binding | protein binding | DNA-binding transcription factor binding | proteasome binding | protein carrier chaperone | ATPase binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0070628 | http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0051117 | | 20160352 | 17947299,21044950,23035048,25274773,32296183,32814053 | | | 20160352 | 17947299 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/720 720 C4A complement component C1q complex binding | endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 2395880 | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/720 720 C4A complement component C1q complex binding | endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 2395880 | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/721 721 C4B protein binding | endopeptidase inhibitor activity | carbohydrate binding | complement binding | complement component C1q complex binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0001848 | http://purl.obolibrary.org/obo/GO_0001849 22071314 | | 2395880 | 2395880 | http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/7461 7461 CLIP2 microtubule binding | microtubule plus-end binding http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0051010 | http://nanbyodata.jp/ontology/NANDO_2200286 NANDO:2200286 小児慢性特定疾病 Specific pediatric chronic disease ウィリアムズ症候群 Williams syndrome MONDO:0008678 exactMatch http://glycosmos.org/glycogene/79932 79932 KIAA0319L protein binding http://purl.obolibrary.org/obo/GO_0005515 20697954,25416956 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3081 3081 HGD metal ion binding | identical protein binding | homogentisate 1,2-dioxygenase activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004411 | http://purl.obolibrary.org/obo/GO_0005515 | 25416956,32296183 | 8782815 | 21044950,32296183 http://nanbyodata.jp/ontology/NANDO_2200504 NANDO:2200504 小児慢性特定疾病 Specific pediatric chronic disease アルカプトン尿症 Alkaptonuria MONDO:0008753 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3155 3155 HMGCL magnesium ion binding | hydroxymethylglutaryl-CoA lyase activity | manganese ion binding | structural molecule activity | metal ion binding http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004419 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0046872 9200711 | 12464283,22847177,22865860,8027038,8670134,9200711,9869651 | 9200711 | 12464283 | 16330550 http://nanbyodata.jp/ontology/NANDO_2200497 NANDO:2200497 小児慢性特定疾病 Specific pediatric chronic disease 3-ヒドロキシ-3-メチルグルタル酸血症 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 exactMatch http://glycosmos.org/glycogene/3172 3172 HNF4A DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | signaling receptor binding | nuclear receptor activity | sequence-specific double-stranded DNA binding | fatty acid binding | protein binding | protein homodimerization activity | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | zinc ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005504 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003682 10330009,12911579,16488887,7615825 | | 12220494 | 12193589 | 28473536 | 12220494 | 12855700,16488887,17932483,17978169,19549071,19846556,21532585,23714182,23714368,25910212,28128295,30530698,33961781,35140242 | 12220494 | 10551874,7615825 | | 16488887 | | | | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0007452 closeMatch http://glycosmos.org/glycogene/3172 3172 HNF4A DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | signaling receptor binding | nuclear receptor activity | sequence-specific double-stranded DNA binding | fatty acid binding | protein binding | protein homodimerization activity | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | zinc ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005504 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003682 10330009,12911579,16488887,7615825 | | 12220494 | 12193589 | 28473536 | 12220494 | 12855700,16488887,17932483,17978169,19549071,19846556,21532585,23714182,23714368,25910212,28128295,30530698,33961781,35140242 | 12220494 | 10551874,7615825 | | 16488887 | | | | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/411 411 ARSB N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 19306108 | | 2303452 http://nanbyodata.jp/ontology/NANDO_2200551 NANDO:2200551 小児慢性特定疾病 Specific pediatric chronic disease ムコ多糖症VI型 Mucopolysaccharidosis type VI MONDO:0009661 exactMatch http://glycosmos.org/glycogene/427 427 ASAH1 transcription corepressor activity | N-acylsphingosine amidohydrolase activity | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides | nuclear receptor binding | fatty acid amide hydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0017040 | http://purl.obolibrary.org/obo/GO_0016811 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0017064 | http://purl.obolibrary.org/obo/GO_0005515 22927646 | 10610716,11451951,12764132,12815059,7744740 | 15655246 | 22927646 | | 22927646,32814053 http://nanbyodata.jp/ontology/NANDO_2200565 NANDO:2200565 小児慢性特定疾病 Specific pediatric chronic disease ファーバー病 Farber disease MONDO:0009218 exactMatch http://glycosmos.org/glycogene/445 445 ASS1 protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015643 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0004055 12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870 http://nanbyodata.jp/ontology/NANDO_2200480 NANDO:2200480 小児慢性特定疾病 Specific pediatric chronic disease アルギニノコハク酸合成酵素欠損症 Argininosuccinate synthetase deficiency MONDO:0008988 exactMatch http://glycosmos.org/glycogene/5019 5019 OXCT1 succinyl-CoA:3-oxo-acid CoA-transferase activity http://purl.obolibrary.org/obo/GO_0008260 10964512,8751852 http://nanbyodata.jp/ontology/NANDO_2200499 NANDO:2200499 小児慢性特定疾病 Specific pediatric chronic disease スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症 Succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0009492 exactMatch http://glycosmos.org/glycogene/5133 5133 PDCD1 protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 15240681,17489864,20587542,21982860,23417675,26602187,28046066,30487606 | 21276005,38377992 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/5213 5213 PFKM metal ion binding | monosaccharide binding | identical protein binding | fructose-6-phosphate binding | ATP binding | kinase binding | AMP binding | 6-phosphofructokinase activity | fructose binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0048029 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070095 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0003872 | http://purl.obolibrary.org/obo/GO_0070061 | http://purl.obolibrary.org/obo/GO_0005515 | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721 http://nanbyodata.jp/ontology/NANDO_2200543 NANDO:2200543 小児慢性特定疾病 Specific pediatric chronic disease 糖原病VII型 Glycogen storage disease type VII MONDO:0009295 exactMatch http://glycosmos.org/glycogene/5468 5468 PPARG prostaglandin receptor activity | peptide binding | zinc ion binding | alpha-actinin binding | enzyme binding | STAT family protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | double-stranded DNA binding | nucleic acid binding | arachidonic acid binding | WW domain binding | DNA-binding transcription factor binding | nuclear receptor activity | nuclear retinoid X receptor binding | DNA binding | DNA-binding transcription factor activity | sequence-specific DNA binding | LBD domain binding | R-SMAD binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding domain binding | identical protein binding | chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | transcription coregulator binding | E-box binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0004955 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0050544 | http://purl.obolibrary.org/obo/GO_0050699 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0050693 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0050692 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0000976 9568715 | 19043829 | 19043829 | 22351778 | 12039952 | 28467929 | | 12040021,12522104,14701856,15722453,16239304,17500595,19043829,19047629,19846556,20195357,20211142,20660480,21478865,21775429,22078880,22351778,25609649,32296183,32814053,35140242 | 19043829 | 19043829 | 9568715 | 22292086 | 10622252 | 10622252,12955147,16239304,18293083 | 19043829,9568715 | 18382765 | 9568715 | 9568716 | 19043829 | 31023188 | 25704091 | 19043829 | 17937915,25609649 | | 25704091 | | 14701856 | | 18293083 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/5476 5476 CTSA serine-type carboxypeptidase activity | carboxypeptidase activity | enzyme activator activity http://purl.obolibrary.org/obo/GO_0004185 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0008047 12505983,1907282 | 2244901 | 3107551 http://nanbyodata.jp/ontology/NANDO_2200557 NANDO:2200557 小児慢性特定疾病 Specific pediatric chronic disease ガラクトシアリドーシス Galactosialidosis MONDO:0009737 exactMatch http://glycosmos.org/glycogene/5506 5506 PPP1R3A protein phosphatase 1 binding | glycogen binding http://purl.obolibrary.org/obo/GO_0008157 | http://purl.obolibrary.org/obo/GO_2001069 | http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/5770 5770 PTPN1 zinc ion binding | ephrin receptor binding | cadherin binding | protein tyrosine phosphatase activity | enzyme binding | histone H2AXY142 phosphatase activity | protein kinase binding | protein phosphatase 2A binding | protein tyrosine phosphatase activity, metal-dependent | insulin receptor binding | receptor tyrosine kinase binding | RNA binding | non-membrane spanning protein tyrosine phosphatase activity | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0005515 18074158 | 21135139 | 25468996 | 18074158,21707536,22169477 | 22169477 | | 22169477 | | | | 18819921 | 22658674 | | 10660596,10889023,11007774,11106648,11163213,11506178,11579209,11694501,11970898,12023880,12176037,12237455,12614164,12634852,12857726,12907755,14527337,14722096,15588987,15821101,15866871,15894168,15976035,16115959,16271887,16388599,16537444,16582879,16644720,16926280,17092689,17128263,17159996,17197020,17416557,17481567,17974954,18387954,18515860,18579758,19029027,19167335,19712109,21806020,22789536,24658140,24976139,25796184,31585087,31980649,32296183,35384245,8702689,8940134,8999839,9050838,9355745,9407132,9418872,9566916,9600099 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/5836 5836 PYGL protein binding | identical protein binding | AMP binding | purine nucleobase binding | SHG alpha-glucan phosphorylase activity | glycogen phosphorylase activity | maltodextrin phosphorylase activity | pyridoxal phosphate binding | ATP binding | glucose binding | linear malto-oligosaccharide phosphorylase activity | vitamin binding | bile acid binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0002060 | http://purl.obolibrary.org/obo/GO_0102499 | http://purl.obolibrary.org/obo/GO_0008184 | http://purl.obolibrary.org/obo/GO_0031220 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0102250 | http://purl.obolibrary.org/obo/GO_0019842 | http://purl.obolibrary.org/obo/GO_0032052 25416956,25910212,32296183,33961781 | 10980448 | 10949035,10980448 | 12204691 | | 10980448,17705025,22225877,9529348 | | | 10949035 | 10980448,12204691 | | 12204691 | 12204691 http://nanbyodata.jp/ontology/NANDO_2200542 NANDO:2200542 小児慢性特定疾病 Specific pediatric chronic disease 糖原病VI型 Glycogen storage disease type VI MONDO:0009294 exactMatch http://glycosmos.org/glycogene/5837 5837 PYGM pyridoxal phosphate binding | glycogen phosphorylase activity | maltodextrin phosphorylase activity | linear malto-oligosaccharide phosphorylase activity | SHG alpha-glucan phosphorylase activity | protein binding | nucleotide binding http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0008184 | http://purl.obolibrary.org/obo/GO_0031220 | http://purl.obolibrary.org/obo/GO_0102250 | http://purl.obolibrary.org/obo/GO_0102499 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000166 | 1150650,8316268 | | | | 24722188,25416956,31515488,32296183,33961781,36217029 | http://nanbyodata.jp/ontology/NANDO_2200541 NANDO:2200541 小児慢性特定疾病 Specific pediatric chronic disease 糖原病V型 Glycogen storage disease type V MONDO:0009293 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200406 NANDO:2200406 小児慢性特定疾病 Specific pediatric chronic disease 多発性内分泌腫瘍2型 Multiple endocrine neoplasia type 2 MONDO:0008234 closeMatch http://glycosmos.org/glycogene/6340 6340 SCNN1G WW domain binding | sodium channel activity | ligand-gated sodium channel activity | protein binding | monoatomic ion channel activity | ion channel activity http://purl.obolibrary.org/obo/GO_0050699 | http://purl.obolibrary.org/obo/GO_0005272 | http://purl.obolibrary.org/obo/GO_0015280 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005216 | http://purl.obolibrary.org/obo/GO_0005216 10642508 | 24124190,32729833 | | 11244092,16423824,21775436,22493497 | 22864553 | 22864553 http://nanbyodata.jp/ontology/NANDO_2200363 NANDO:2200363 小児慢性特定疾病 Specific pediatric chronic disease リドル症候群 Liddle syndrome MONDO:0008323 exactMatch http://glycosmos.org/glycogene/6584 6584 SLC22A5 PDZ domain binding | xenobiotic transmembrane transporter activity | ATP binding | symporter activity | (R)-carnitine transmembrane transporter activity | quaternary ammonium group transmembrane transporter activity | protein binding | amino-acid betaine transmembrane transporter activity | carnitine transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0015293 | http://purl.obolibrary.org/obo/GO_1901235 | http://purl.obolibrary.org/obo/GO_0015651 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015199 | http://purl.obolibrary.org/obo/GO_0015226 15523054 | 15238359 | | | 17509700,20722056,23877104,33334877 | 10454528,10966938,23567998,9618255 | 15523054,28514442,32296183,33961781 | 33124720 | 10454528,10966938,17855766,9685390,9916797 http://nanbyodata.jp/ontology/NANDO_2200508 NANDO:2200508 小児慢性特定疾病 Specific pediatric chronic disease 全身性カルニチン欠損症 Organic cation transporter 2 deficiency MONDO:0008919 exactMatch http://glycosmos.org/glycogene/6514 6514 SLC2A2 galactose transmembrane transporter activity | glucose transmembrane transporter activity | hexose transmembrane transporter activity | dehydroascorbic acid transmembrane transporter activity | fructose transmembrane transporter activity | D-glucose transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005354 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0015149 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0005353 | http://purl.obolibrary.org/obo/GO_0055056 8457197 | | | 23396969 | 23396969,28083649,29548810,8457197 | 23396969,28083649,29548810,8457197 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/6519 6519 SLC3A1 L-cystine transmembrane transporter activity | protein-containing complex binding | protein heterodimerization activity | amino acid transmembrane transporter activity | protein binding | basic amino acid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0015171 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015174 8054986 | | 32494597 | 10799513 | 12167606,32494597 | 8054986 http://nanbyodata.jp/ontology/NANDO_2200489 NANDO:2200489 小児慢性特定疾病 Specific pediatric chronic disease シスチン尿症 Cystinuria MONDO:0009067 exactMatch http://glycosmos.org/glycogene/6696 6696 SPP1 cytokine activity | small molecule binding | integrin binding | extracellular matrix binding | protein binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0005515 | 33914399 | 25839998 | | 10747989,11162539,16189514,21988832,22582013,25416956,25789606,25910212,26091039,32296183,32814053,8560266 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/64072 64072 CDH23 beta-catenin binding | calcium ion binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | | 12485990 | http://nanbyodata.jp/ontology/NANDO_2200350 NANDO:2200350 小児慢性特定疾病 Specific pediatric chronic disease クッシング病 Cushing disease MONDO:0009050 exactMatch http://glycosmos.org/glycogene/56945 56945 MRPS22 structural constituent of ribosome | protein binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0005515 10938081 | 30021884,33961781 http://nanbyodata.jp/ontology/NANDO_2200384 NANDO:2200384 小児慢性特定疾病 Specific pediatric chronic disease 卵巣形成不全 Ovarian dysgenesis MONDO:0009299 exactMatch http://glycosmos.org/glycogene/54899 54899 PXK phosphatidylinositol binding | protein kinase activity | protein binding | nucleotide binding | actin binding | ATP binding http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000166 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005524 16142408 | 16142408 | 16135750 | 16142408 | | 16142408 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/8924 8924 HERC2 ubiquitin protein ligase binding | ubiquitin protein ligase activity | SUMO binding | guanyl-nucleotide exchange factor activity | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0032183 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 22508508 | 20304803 | 22508508 | 9949213 | 20023648,20304803,28514442,29426014,31413325,33961781,35140242 | http://nanbyodata.jp/ontology/NANDO_2200411 NANDO:2200411 小児慢性特定疾病 Specific pediatric chronic disease プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 exactMatch http://glycosmos.org/glycogene/64127 64127 NOD2 ubiquitin binding | actin binding | Hsp90 protein binding | CARD domain binding | ATP binding | pattern recognition receptor activity | Hsp70 protein binding | protein-containing complex binding | protein binding | protein kinase binding | ADP binding | muramyl dipeptide binding | enzyme binding | peptidoglycan binding http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0050700 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0030544 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0032500 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042834 23300079 | 24790089 | 24790089 | 11087742 | | 12871942,17355968,22857257,23300079,27748583,31649195,33942347 | 24790089 | 17337451 | 11472070,15107016,15753091,16203728,16714539,17337451,18511561,19337385,20534456,21699783,21931826,22684479,22700971,22829933,23376921,23711367,24695226,26836588,27812135,28436939,30833792,31273097,35273242 | 15075345,24790089,25891078 | | 12871942,15044951,15998797,22857257,27748583 | 15753091 | 15998797 http://nanbyodata.jp/ontology/NANDO_2200434 NANDO:2200434 小児慢性特定疾病 Specific pediatric chronic disease ブラウ症候群 Blau syndrome, early onset sarcoidosis MONDO:0008523 exactMatch http://glycosmos.org/glycogene/8660 8660 IRS2 14-3-3 protein binding | phosphatidylinositol 3-kinase activator activity | transmembrane receptor protein tyrosine kinase adaptor activity | protein binding | protein phosphatase binding | insulin receptor binding | protein domain specific binding | phosphatidylinositol 3-kinase binding | signaling adaptor activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005068 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0043548 | http://purl.obolibrary.org/obo/GO_0035591 | | | 15161933,15778465,17901049,21241768,23617393,26496610,28514442,33961781,36931259 | | | | | 15316008 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/54551 54551 MAGEL2 protein binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004842 20864041,23452853,26365382,32296183 | 23452853 http://nanbyodata.jp/ontology/NANDO_2200411 NANDO:2200411 小児慢性特定疾病 Specific pediatric chronic disease プラダー・ウィリ症候群 Prader-Willi syndrome MONDO:0008300 exactMatch http://glycosmos.org/glycogene/5167 5167 ENPP1 insulin receptor binding | UTP diphosphatase activity | polysaccharide binding | dinucleotide phosphatase activity | 3',5'-cyclic-AMP phosphodiesterase activity | zinc ion binding | protein binding | nucleoside triphosphate diphosphatase activity | ATP binding | exonuclease activity | nucleic acid binding | cyclic-GMP-AMP hydrolase activity | protein homodimerization activity | calcium ion binding | ATP diphosphatase activity | phosphatase activity | phosphodiesterase I activity | scavenger receptor activity | GTP diphosphatase activity | 8-oxo-(d)RTP hydrolase activity | 3'-phosphoadenosine 5'-phosphosulfate binding http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0036221 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0004551 | http://purl.obolibrary.org/obo/GO_0004115 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047429 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004527 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0106177 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0047693 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0004528 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0036219 | http://purl.obolibrary.org/obo/GO_0106379 | http://purl.obolibrary.org/obo/GO_0050656 7830796 | | | 12746903 | | | 11289049,26065921 | 10513816,11159191,25344812,7830796 | 7830796 | 22285541 | | 25344812 | 28964717,7830796 | | | 28592560 | 27467858 | | | | 7830796 http://nanbyodata.jp/ontology/NANDO_2200461 NANDO:2200461 小児慢性特定疾病 Specific pediatric chronic disease 2型糖尿病 Diabetes mellitus type 2 MONDO:0005148 exactMatch http://glycosmos.org/glycogene/3291 3291 HSD11B2 NAD binding | 11-beta-hydroxysteroid dehydrogenase (NAD+) activity | steroid binding http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0070523 | http://purl.obolibrary.org/obo/GO_0005496 | 8538347 | http://nanbyodata.jp/ontology/NANDO_2200362 NANDO:2200362 小児慢性特定疾病 Specific pediatric chronic disease 見かけの鉱質コルチコイド過剰症候群 Apparent mineralocorticoid excess syndrome MONDO:0009025 exactMatch http://glycosmos.org/glycogene/3284 3284 HSD3B2 steroid delta-isomerase activity | protein binding | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 3-beta-hydroxy-delta5-steroid dehydrogenase activity http://purl.obolibrary.org/obo/GO_0004769 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016616 | http://purl.obolibrary.org/obo/GO_0003854 1944309,25322271 | 32814053 | | 1944309,25322271 http://nanbyodata.jp/ontology/NANDO_2200371 NANDO:2200371 小児慢性特定疾病 Specific pediatric chronic disease 3β-ヒドロキシステロイド脱水素酵素欠損症 3 beta-hydroxysteroid dehydrogenase deficiency MONDO:0008727 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_2200547 NANDO:2200547 小児慢性特定疾病 Specific pediatric chronic disease ムコ多糖症I型 Mucopolysaccharidosis type I MONDO:0001586 exactMatch http://glycosmos.org/glycogene/3586 3586 IL10 protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005141 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884 http://nanbyodata.jp/ontology/NANDO_2200416 NANDO:2200416 小児慢性特定疾病 Specific pediatric chronic disease 全身性エリテマトーデス Systemic lupus erythematosus MONDO:0007915 exactMatch http://glycosmos.org/glycogene/3586 3586 IL10 protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005141 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/3592 3592 IL12A interleukin-12 receptor binding | interleukin-27 binding | protein binding | interleukin-12 beta subunit binding | cytokine activity | protein heterodimerization activity | growth factor activity http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0045513 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042163 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008083 1674604 | 9342359 | 10899108,11023671,7527811 | 11023671 | 1673147,1674604,7584494 | 11023671,1674604 | 1673147,1674604 http://nanbyodata.jp/ontology/NANDO_2200422 NANDO:2200422 小児慢性特定疾病 Specific pediatric chronic disease ベーチェット病 Behcet's disease MONDO:0007191 exactMatch http://glycosmos.org/glycogene/51816 51816 ADA2 zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0042803 20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/144568 144568 A2ML1 peptidase inhibitor activity | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0030414 | http://purl.obolibrary.org/obo/GO_0004867 16298998 | http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/3557 3557 IL1RN interleukin-1 type II receptor antagonist activity | interleukin-1, type I receptor binding | protein binding | cytokine activity | interleukin-1 type I receptor antagonist activity | interleukin-1 receptor antagonist activity | interleukin-1 receptor binding | interleukin-1, type II receptor binding http://purl.obolibrary.org/obo/GO_0045353 | http://purl.obolibrary.org/obo/GO_0005150 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0045352 | http://purl.obolibrary.org/obo/GO_0005152 | http://purl.obolibrary.org/obo/GO_0005149 | http://purl.obolibrary.org/obo/GO_0005151 1830582 | 1828071 | 21044950,33961781,9062194 | | 1828071 | 2137200,2139180,7629520 | 2137200 | 1830582 http://nanbyodata.jp/ontology/NANDO_2200439 NANDO:2200439 小児慢性特定疾病 Specific pediatric chronic disease インターロイキンI受容体拮抗分子欠損症 Deficiency of the interleukin-1-receptor antagonist MONDO:0013021 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_2200415 NANDO:2200415 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 exactMatch http://glycosmos.org/glycogene/10371 10371 SEMA3A semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | 19909241 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/83550 83550 GPR101 protein binding | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | http://nanbyodata.jp/ontology/NANDO_2200315 NANDO:2200315 小児慢性特定疾病 Specific pediatric chronic disease 先端巨大症 Acromegaly MONDO:0019933 exactMatch http://glycosmos.org/glycogene/128674 128674 PROKR2 protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/128674 128674 PROKR2 protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/22800 22800 RRAS2 GTPase activity | GTP binding | protein binding | GDP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019003 31130282 | | 12620389,19060904,28514442,31515488,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/1056 1056 CEL heparin binding | acetylesterase activity | retinyl-palmitate esterase activity | catalytic activity | protein binding | hydrolase activity | sterol esterase activity | triglyceride lipase activity http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0008126 | http://purl.obolibrary.org/obo/GO_0050253 | http://purl.obolibrary.org/obo/GO_0003824 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0004806 7578248 | | | 2265692 | 11834744 | 2265692 | 12031288 | 2265692 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_2200566 NANDO:2200566 小児慢性特定疾病 Specific pediatric chronic disease マルチプルスルファターゼ欠損症 Multiple sulfatase deficiency MONDO:0010088 exactMatch http://glycosmos.org/glycogene/1200 1200 TPP1 metal ion binding | protein binding | serine-type endopeptidase activity | peptide binding | peptidase activity | lysophosphatidic acid binding | tripeptidyl-peptidase activity | endopeptidase activity | sulfatide binding | serine-type peptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008236 | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422 http://nanbyodata.jp/ontology/NANDO_2200573 NANDO:2200573 小児慢性特定疾病 Specific pediatric chronic disease 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinoses MONDO:0016295 exactMatch http://glycosmos.org/glycogene/1356 1356 CP copper ion binding | protein-folding chaperone binding | glutathione peroxidase activity | phospholipid-hydroperoxide glutathione peroxidase activity | oxidoreductase activity, acting on metal ions, oxygen as acceptor | oxidoreductase activity | ferroxidase activity http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0004602 | http://purl.obolibrary.org/obo/GO_0047066 | http://purl.obolibrary.org/obo/GO_0016724 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0004322 | 19996109 | 10481051,10508415 | 10481051,10508415 | 14623105 | | 14623105,16150804,29183916 http://nanbyodata.jp/ontology/NANDO_2200582 NANDO:2200582 小児慢性特定疾病 Specific pediatric chronic disease 無セルロプラスミン血症 Aceruloplasminemia MONDO:0011426 exactMatch http://glycosmos.org/glycogene/18 18 ABAT identical protein binding | succinate-semialdehyde dehydrogenase binding | iron-sulfur cluster binding | 4-aminobutyrate:2-oxoglutarate transaminase activity | metal ion binding | (S)-3-amino-2-methylpropionate transaminase activity | pyridoxal phosphate binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0032145 | http://purl.obolibrary.org/obo/GO_0051536 | http://purl.obolibrary.org/obo/GO_0034386 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047298 | http://purl.obolibrary.org/obo/GO_0030170 15528998 | | | 10407778,15528998 | | | 15650327 http://nanbyodata.jp/ontology/NANDO_2200598 NANDO:2200598 小児慢性特定疾病 Specific pediatric chronic disease GABAアミノ基転移酵素欠損症 Gamma-amino butyrate aminotransferase deficiency MONDO:0013166 exactMatch http://glycosmos.org/glycogene/1376 1376 CPT2 carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004095 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0008458 | http://purl.obolibrary.org/obo/GO_0005515 1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200510 NANDO:2200510 小児慢性特定疾病 Specific pediatric chronic disease カルニチンパルミトイルトランスフェラーゼII欠損症 Carnitine palmitoyltransferase II deficiency MONDO:0015515 closeMatch http://glycosmos.org/glycogene/1493 1493 CTLA4 protein binding http://purl.obolibrary.org/obo/GO_0005515 11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138 http://nanbyodata.jp/ontology/NANDO_2200424 NANDO:2200424 小児慢性特定疾病 Specific pediatric chronic disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_2200571 NANDO:2200571 小児慢性特定疾病 Specific pediatric chronic disease シスチン症 Cystinosis MONDO:0016239 exactMatch http://glycosmos.org/glycogene/1509 1509 CTSD peptidase activity | cysteine-type endopeptidase activity | aspartic-type endopeptidase activity | protein binding | aspartic-type peptidase activity http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004197 | http://purl.obolibrary.org/obo/GO_0004190 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070001 16997486,17188016 | | | 17112520,28493053,32814053 | http://nanbyodata.jp/ontology/NANDO_2200573 NANDO:2200573 小児慢性特定疾病 Specific pediatric chronic disease 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinoses MONDO:0016295 exactMatch http://glycosmos.org/glycogene/138050 138050 HGSNAT acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019 19823584,20650889 | http://nanbyodata.jp/ontology/NANDO_2200549 NANDO:2200549 小児慢性特定疾病 Specific pediatric chronic disease ムコ多糖症III型 Mucopolysaccharidosis type III MONDO:0018937 exactMatch http://glycosmos.org/glycogene/1630 1630 DCC transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 8861902 | 11527412,12011067,16537496,18585357,19721007,20434207,21642953,22084112,26190107 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/10555 10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase activity http://purl.obolibrary.org/obo/GO_0003841 15629135,19075029,21873652,9212163,9242711,9461603 http://nanbyodata.jp/ontology/NANDO_2200465 NANDO:2200465 小児慢性特定疾病 Specific pediatric chronic disease 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 closeMatch http://glycosmos.org/glycogene/3630 3630 INS insulin receptor binding | protein binding | hormone activity | identical protein binding | protease binding | insulin-like growth factor receptor binding http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005159 7556975,8452530,9667398 | 17051221,23302862,29512653,29764935,32296183,9388210,9773776 | 14986111,381941,9667398 | 17472440,20738396,22854022,23106816,23416304,23510797 | 20082125 | 8452530 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/3651 3651 PDX1 DNA-binding transcription factor activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0044877 | | 17941991 | 28473536 | | http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/3730 3730 ANOS1 protein binding | heparin binding | serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005201 19696444,32296183 | | | 8842728 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/3730 3730 ANOS1 protein binding | heparin binding | serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005201 19696444,32296183 | | | 8842728 http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/3767 3767 KCNJ11 ATP-activated inward rectifier potassium channel activity | potassium ion binding | ankyrin binding | transmembrane transporter binding | ATP binding | ATPase-coupled monoatomic cation transmembrane transporter activity | protein binding | heat shock protein binding | voltage-gated potassium channel activity | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0099508 28842488 | 8923010 | 20610380 | 20610380 | 12860923 | | 19805355,32296183 | | 19805355 | 18945825 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_2200570 NANDO:2200570 小児慢性特定疾病 Specific pediatric chronic disease 酸性リパーゼ欠損症 Acid lipase deficiency MONDO:0019148 closeMatch http://glycosmos.org/glycogene/6710 6710 SPTB structural constituent of cytoskeleton | actin binding | ankyrin binding | protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051015 | 2195026 | 8159688 | 10751147,12820899,16060676,20197550,23414517,32814053,33961781 | 16060676 http://nanbyodata.jp/ontology/NANDO_2200622 NANDO:2200622 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 exactMatch http://glycosmos.org/glycogene/6716 6716 SRD5A2 protein binding | testosterone dehydrogenase [NAD(P)] activity | amide binding | 3-oxo-5-alpha-steroid 4-dehydrogenase activity | 3-oxo-5alpha-steroid 4-dehydrogenase (NADP+) http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030283 | http://purl.obolibrary.org/obo/GO_0033218 | http://purl.obolibrary.org/obo/GO_0003865 | http://purl.obolibrary.org/obo/GO_0047751 32296183,33961781 | 10898110 | | | 1944596 http://nanbyodata.jp/ontology/NANDO_2200389 NANDO:2200389 小児慢性特定疾病 Specific pediatric chronic disease 5α-還元酵素欠損症 5 alpha-reductase deficiency MONDO:0009923 exactMatch http://glycosmos.org/glycogene/6870 6870 TACR3 tachykinin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0004995 | http://purl.obolibrary.org/obo/GO_0005515 | 12716968,23597562 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/6870 6870 TACR3 tachykinin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0004995 | http://purl.obolibrary.org/obo/GO_0005515 | 12716968,23597562 http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/6927 6927 HNF1A transcription cis-regulatory region binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | protein dimerization activity | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/2038 2038 EPB42 protein binding | protein-glutamine gamma-glutamyltransferase activity | structural constituent of cytoskeleton | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003810 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005524 12646258,12970870,32814053 | | 1350227 | 8608138 http://nanbyodata.jp/ontology/NANDO_2200622 NANDO:2200622 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 exactMatch http://glycosmos.org/glycogene/2187 2187 FANCB protein binding http://purl.obolibrary.org/obo/GO_0005515 17396147 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2177 2177 FANCD2 protein binding | DNA polymerase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070182 12874027,15115758,17460694,18212739,19609304,20603015,20603016,20603073,20805509,35384245 | 19995904 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2189 2189 FANCG damaged DNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0005515 9806548 | 10627486,10652215,11063725,12649160,16189514,17060495,17289582,17396147,19102630,22458338,28514442,31467278,32296183,32814053,33961781,37398436 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/2253 2253 FGF8 type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0005105 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0042056 16384934 | 16384934 | 17265164,8891346 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/2253 2253 FGF8 type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0005105 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0042056 16384934 | 16384934 | 17265164,8891346 | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/2271 2271 FH fumarate hydratase activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0004333 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 26237645,29456767,30718813,30761759 | 25416956,26237645,32296183,39251607 | 26237645 http://nanbyodata.jp/ontology/NANDO_2200520 NANDO:2200520 小児慢性特定疾病 Specific pediatric chronic disease フマラーゼ欠損症 Fumarase deficiency MONDO:0011730 exactMatch http://glycosmos.org/glycogene/2353 2353 FOS sequence-specific double-stranded DNA binding | protein-containing complex binding | RNA polymerase II core promoter sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity, RNA polymerase II-specific | identical protein binding | transcription cis-regulatory region binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | transcription coregulator binding | RNA polymerase II-specific DNA-binding transcription factor binding | R-SMAD binding | protein binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0005515 28473536 | | 10704222 | 30670568 | | | 23661758,25609649 | 9732876 | 30670568 | 10704222,9732876 | 10523647 | 10508860 | 9732876 | 12788789,16511568,18172215,19028685,19064921,20102225,20195357,20211142,20511396,20936779,21199371,22308434,23602568,23661758,24029232,25241761,25609649,26496610,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35140242,37398436,7816143 http://nanbyodata.jp/ontology/NANDO_2200465 NANDO:2200465 小児慢性特定疾病 Specific pediatric chronic disease 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 closeMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_2200562 NANDO:2200562 小児慢性特定疾病 Specific pediatric chronic disease ゴーシェ病 Gaucher disease MONDO:0018150 exactMatch http://glycosmos.org/glycogene/2645 2645 GCK mannokinase activity | glucose binding | glucokinase activity | glucose sensor activity | ATP binding | fructokinase activity | protein binding http://purl.obolibrary.org/obo/GO_0019158 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0004340 | http://purl.obolibrary.org/obo/GO_0141089 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008865 | http://purl.obolibrary.org/obo/GO_0005515 | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/2710 2710 GK metal ion binding | ATP binding | protein binding | glycerol kinase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004370 | | 21988832 | 15845384,37021775,8401584,8651297 http://nanbyodata.jp/ontology/NANDO_2200505 NANDO:2200505 小児慢性特定疾病 Specific pediatric chronic disease グリセロール尿症 Glycerol kinase deficiency MONDO:0010613 exactMatch http://glycosmos.org/glycogene/2717 2717 GLA protein binding | signaling receptor binding | protein homodimerization activity | catalytic activity | hydrolase activity | galactoside binding | alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003824 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0004557 1332979,21949853,33961781,6313412 | 1332979 | 6256390 | 39940 | 7911050 | | 10838196,16372133,27211852,39940,8804427 http://nanbyodata.jp/ontology/NANDO_2200563 NANDO:2200563 小児慢性特定疾病 Specific pediatric chronic disease ファブリー病 Fabry disease MONDO:0010526 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_2200558 NANDO:2200558 小児慢性特定疾病 Specific pediatric chronic disease GM1ガングリオシドーシス GM1 Gangliosidosis MONDO:0018149 exactMatch http://glycosmos.org/glycogene/2731 2731 GLDC glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0004375 | http://purl.obolibrary.org/obo/GO_0070280 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0042803 | | 28244183 | | | 2268343 | http://nanbyodata.jp/ontology/NANDO_2200476 NANDO:2200476 小児慢性特定疾病 Specific pediatric chronic disease 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia MONDO:0011612 exactMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_2200348 NANDO:2200348 小児慢性特定疾病 Specific pediatric chronic disease 偽性偽性副甲状腺機能低下症 Pseudopseudohypoparathyroidism MONDO:0012912 exactMatch http://glycosmos.org/glycogene/2778 2778 GNAS G protein activity | metal ion binding | adenylate cyclase regulator activity | corticotropin-releasing hormone receptor 1 binding | insulin-like growth factor receptor binding | D1 dopamine receptor binding | ionotropic glutamate receptor binding | GTPase activity | GTP binding | protein binding | mu-type opioid receptor binding | beta-2 adrenergic receptor binding | adenylate cyclase activator activity | G-protein beta/gamma-subunit complex binding http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0010854 | http://purl.obolibrary.org/obo/GO_0051430 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0031748 | http://purl.obolibrary.org/obo/GO_0035255 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031852 | http://purl.obolibrary.org/obo/GO_0031698 | http://purl.obolibrary.org/obo/GO_0010856 | http://purl.obolibrary.org/obo/GO_0031683 10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | http://nanbyodata.jp/ontology/NANDO_2200412 NANDO:2200412 小児慢性特定疾病 Specific pediatric chronic disease マッキューン・オルブライト症候群 McCune-Albright syndrome MONDO:0018919 exactMatch http://glycosmos.org/glycogene/2798 2798 GNRHR gonadotropin-releasing hormone receptor activity | peptide binding http://purl.obolibrary.org/obo/GO_0004968 | http://purl.obolibrary.org/obo/GO_0042277 | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/6833 6833 ABCC8 ATPase-coupled monoatomic cation transmembrane transporter activity | metal ion binding | potassium channel activity | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ATP-activated inward rectifier potassium channel activity | ATP binding | ADP binding | ABC-type transporter activity | sulfonylurea receptor activity | transmembrane transporter binding | protein binding http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0008281 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355 http://nanbyodata.jp/ontology/NANDO_2200399 NANDO:2200399 小児慢性特定疾病 Specific pediatric chronic disease 先天性高インスリン血症 Congenital hyperinsulinemia MONDO:0017182 closeMatch http://glycosmos.org/glycogene/6833 6833 ABCC8 ATPase-coupled monoatomic cation transmembrane transporter activity | metal ion binding | potassium channel activity | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ATP-activated inward rectifier potassium channel activity | ATP binding | ADP binding | ABC-type transporter activity | sulfonylurea receptor activity | transmembrane transporter binding | protein binding http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0008281 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/4210 4210 MEFV zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247 http://nanbyodata.jp/ontology/NANDO_2200431 NANDO:2200431 小児慢性特定疾病 Specific pediatric chronic disease 家族性地中海熱 Familial Mediterranean fever MONDO:0018088 exactMatch http://glycosmos.org/glycogene/4282 4282 MIF identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005126 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0050178 | http://purl.obolibrary.org/obo/GO_0004167 20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494 http://nanbyodata.jp/ontology/NANDO_2200415 NANDO:2200415 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎 Juvenile idiopathic arthritis MONDO:0011429 exactMatch http://glycosmos.org/glycogene/4352 4352 MPL thrombopoietin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0038164 | http://purl.obolibrary.org/obo/GO_0005515 25538044 | 24931576 http://nanbyodata.jp/ontology/NANDO_2200643 NANDO:2200643 小児慢性特定疾病 Specific pediatric chronic disease 真性多血症 Polycythemia vera MONDO:0009891 exactMatch http://glycosmos.org/glycogene/4598 4598 MVK ATP binding | protein binding | mevalonate kinase activity | magnesium ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004496 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0042802 | 21044950,32296183 | 10369261,1377680,14680974,14730012,18302342,9325256 | | 16189514,25502805,26871637,31515488,32296183,9325256 http://nanbyodata.jp/ontology/NANDO_2200436 NANDO:2200436 小児慢性特定疾病 Specific pediatric chronic disease 高IgD症候群 Hyper IgD syndrome MONDO:0009849 closeMatch http://glycosmos.org/glycogene/2908 2908 NR3C1 DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | steroid hormone binding | core promoter sequence-specific DNA binding | TBP-class protein binding | nuclear receptor activity | RNA binding | promoter-specific chromatin binding | estrogen response element binding | protein kinase binding | steroid binding | DNA-binding transcription factor activity | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | Hsp90 protein binding | sequence-specific double-stranded DNA binding | nuclear glucocorticoid receptor activity | identical protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_1990239 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0017025 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0034056 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0004883 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 16728402,23823477,28139699 | 16728402 | 17635946 | 17081986 | 19841061 | 17635946 | | | | 20371704 | 15769988 | 15769988 | 1894621 | | 26593036 | 28473536 | | | 1894621 | 10364267,11266503,12552091,12773562,12902338,15591535,15769988,15941832,16606617,16619302,16888650,17003263,17635946,17978169,19141540,19841061,20195357,20211142,21980503,22170608,24291004,24658140,24949977,26031419,27353360,31467278,31980649,32814053,9079630 | http://nanbyodata.jp/ontology/NANDO_2200358 NANDO:2200358 小児慢性特定疾病 Specific pediatric chronic disease グルココルチコイド抵抗症 Glucocorticoid resistance MONDO:0014421 exactMatch http://glycosmos.org/glycogene/4893 4893 NRAS GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/284119 284119 CAVIN1 rRNA primary transcript binding | RNA binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0042134 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 9582279 | 22658674 | 24013648,32296183 | 17026959,19525939,19726876,24013648,24567387,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200465 NANDO:2200465 小児慢性特定疾病 Specific pediatric chronic disease 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 closeMatch http://glycosmos.org/glycogene/7080 7080 NKX2-1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | enzyme binding | DNA binding | intronic transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | protein binding | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II-specific DNA-binding transcription factor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001161 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 23143308 | 23382074 | 7635972 | 23143308 | 16960125,17220277,19176457,7559607,7713914 | 11152647,17474147,19010321 | | 17220277 | | 14960358,1735431,19176457,7559607 http://nanbyodata.jp/ontology/NANDO_2200331 NANDO:2200331 小児慢性特定疾病 Specific pediatric chronic disease 無甲状腺症 Thyroid agenesis MONDO:0019855 exactMatch http://glycosmos.org/glycogene/7253 7253 TSHR protein binding | G protein-coupled peptide receptor activity | signaling receptor activity | protein-containing complex binding | thyroid-stimulating hormone receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008528 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0004996 15775968,28298427 | | 12045258 | 12045258 | 11847099 http://nanbyodata.jp/ontology/NANDO_2200331 NANDO:2200331 小児慢性特定疾病 Specific pediatric chronic disease 無甲状腺症 Thyroid agenesis MONDO:0019855 exactMatch http://glycosmos.org/glycogene/123016 123016 TTC8 protein binding | RNA polymerase II-specific DNA-binding transcription factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 14520415,16327777,17574030,18762586,24550735,24939912,25552655 | 22302990 http://nanbyodata.jp/ontology/NANDO_2200414 NANDO:2200414 小児慢性特定疾病 Specific pediatric chronic disease バルデー・ビードル症候群 Bardet-Biedl syndrome MONDO:0015229 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/57697 57697 FANCM ATP hydrolysis activity | RNA helicase activity | four-way junction DNA binding | chromatin binding | nuclease activity | 3'-5' DNA helicase activity | protein binding | four-way junction helicase activity | ATP binding http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003724 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0004518 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | | | 20347429 | | | 17289582,20347429,23932590,25416956,32296183,32769987,33961781 | | http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/55215 55215 FANCI DNA binding | DNA polymerase binding | protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070182 | http://purl.obolibrary.org/obo/GO_0005515 | 19995904 | 17460694,20603015,31240132 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/79625 79625 NDNF heparin binding | glycosaminoglycan binding http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005539 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/79158 79158 GNPTAB protein binding | calcium ion binding | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003976 25416956,26385638,28514442,33961781,36074821 | | 19955174,23733939,25505245,25788519 http://nanbyodata.jp/ontology/NANDO_2200568 NANDO:2200568 小児慢性特定疾病 Specific pediatric chronic disease ムコリピドーシスIII型 Mucolipidosis III MONDO:0018931 exactMatch http://glycosmos.org/glycogene/23767 23767 FLRT3 fibroblast growth factor receptor binding | protein-macromolecule adaptor activity | protein homodimerization activity | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0005104 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | 10644439 | 26235030 | | 26235030,26960425 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/84634 84634 KISS1R neuropeptide receptor activity | protein binding | G protein-coupled peptide receptor activity http://purl.obolibrary.org/obo/GO_0008188 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008528 11387329 | 11387329,18772143,18977201 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/84634 84634 KISS1R neuropeptide receptor activity | protein binding | G protein-coupled peptide receptor activity http://purl.obolibrary.org/obo/GO_0008188 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008528 11387329 | 11387329,18772143,18977201 | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/275 275 AMT protein binding | transaminase activity | aminomethyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0004047 32296183 | | 16051266 http://nanbyodata.jp/ontology/NANDO_2200476 NANDO:2200476 小児慢性特定疾病 Specific pediatric chronic disease 非ケトーシス型高グリシン血症 Nonketotic hyperglycinemia MONDO:0011612 exactMatch http://glycosmos.org/glycogene/286 286 ANK1 enzyme binding | protein binding | ATPase binding | transmembrane transporter binding | structural molecule activity | protein phosphatase binding | spectrin binding | structural constituent of cytoskeleton | cytoskeletal anchor activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0030507 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0008093 11427698,21177872 | 12527750,12719424,16580865,16962094,32296183,379653 | 8159688 | | 9430667 | 12354383 | 12354383,379653,8159688,8640229 | 8640229 | 11427698,379653 http://nanbyodata.jp/ontology/NANDO_2200622 NANDO:2200622 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 exactMatch http://glycosmos.org/glycogene/9394 9394 HS6ST1 heparan sulfate 6-O-sulfotransferase activity | sulfotransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0017095 | http://purl.obolibrary.org/obo/GO_0008146 | http://purl.obolibrary.org/obo/GO_0005515 | 9535912 | 32296183 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/9394 9394 HS6ST1 heparan sulfate 6-O-sulfotransferase activity | sulfotransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0017095 | http://purl.obolibrary.org/obo/GO_0008146 | http://purl.obolibrary.org/obo/GO_0005515 | 9535912 | 32296183 http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_2200576 NANDO:2200576 小児慢性特定疾病 Specific pediatric chronic disease 副腎白質ジストロフィー Adrenoleukodystrophy MONDO:0018544 exactMatch http://glycosmos.org/glycogene/353 353 APRT AMP binding | adenine phosphoribosyltransferase activity | protein binding | adenine binding http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0003999 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002055 15196008 | 15196008 | 32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_2200587 NANDO:2200587 小児慢性特定疾病 Specific pediatric chronic disease アデニンホスホリボシルトランスフェラーゼ欠損症 Adenine phosphoribosyltransferase deficiency MONDO:0013869 exactMatch http://glycosmos.org/glycogene/359 359 AQP2 glycerol transmembrane transporter activity | water transmembrane transporter activity | protein binding | water channel activity http://purl.obolibrary.org/obo/GO_0015168 | http://purl.obolibrary.org/obo/GO_0005372 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015250 8584435 | 8584435,9321919 | 25910212,32176498,32296183,36117171 | 11076974,8140421,9829975 http://nanbyodata.jp/ontology/NANDO_2200326 NANDO:2200326 小児慢性特定疾病 Specific pediatric chronic disease 腎性尿崩症 Nephrogenic diabetes insipidus MONDO:0016383 exactMatch http://glycosmos.org/glycogene/367 367 AR signaling receptor binding | POU domain binding | nuclear receptor activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | androgen binding | estrogen response element binding | steroid binding | enzyme binding | G protein-coupled receptor activity | DNA-binding transcription factor activity | transcription cis-regulatory region binding | RNA polymerase II general transcription initiation factor binding | chromatin binding | ATPase binding | RNA polymerase II core promoter sequence-specific DNA binding | zinc ion binding | protein binding | transcription coactivator binding | molecular adaptor activity | beta-catenin binding | RNA polymerase II-specific DNA-binding transcription factor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | molecular condensate scaffold activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0070974 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005497 | http://purl.obolibrary.org/obo/GO_0034056 | http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001091 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140693 11875111 | | 12799378,15572661,17277772,19244107,19345326,19886863,20048160,25091737 | | 16728402,25802280 | 12799378,25091737,3353726 | | | 17277772,17587566 | 22031296 | 11477070,15572661 | 12799378,18487222,19886863 | 20181722 | 21730289 | 12058073 | | | 10075738,10930412,10987273,11477070,12864730,14645241,15563469,15572661,16027218,16051670,16120611,16461912,16494870,16724108,16951154,17108144,17170703,17183365,17202144,17353003,17426252,17510388,17909037,18332867,18451096,18451177,18487222,18640093,19345326,19481544,19574450,19909775,20478527,20501646,20541699,20812024,21172304,21242980,21454491,21512132,21730179,21741601,21885566,22170608,22187462,22531786,22722839,23260764,23518348,23566155,23887938,24728074,24759320,25091737,26175416,27185910,33640491 | 10428808 | 11896058 | 12799378,16344550 | 12799378,16120611 | 16728402,25802280 | 33978290,36229685 http://nanbyodata.jp/ontology/NANDO_2200391 NANDO:2200391 小児慢性特定疾病 Specific pediatric chronic disease アンドロゲン不応症 Androgen insensitivity syndrome MONDO:0019154 exactMatch http://glycosmos.org/glycogene/190 190 NR0B1 transcription corepressor activity | protein domain specific binding | AF-2 domain binding | RNA binding | protein homodimerization activity | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | nuclear receptor binding | DNA hairpin binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0050682 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0032448 19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387 http://nanbyodata.jp/ontology/NANDO_2200357 NANDO:2200357 小児慢性特定疾病 Specific pediatric chronic disease 先天性副腎低形成症 Congenital adrenal hypoplasia MONDO:0010264 closeMatch http://glycosmos.org/glycogene/9051 9051 PSTPIP1 actin filament binding | protein binding | identical protein binding http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | 11971877,16318909,17964261,18480402,19807924,21516116,24407287,25040622,25416956,25910212,26871637,32296183,35152348,9422760 | 17964261,35152348 http://nanbyodata.jp/ontology/NANDO_2200437 NANDO:2200437 小児慢性特定疾病 Specific pediatric chronic disease 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 Pyogenic arthritis, pyoderma gangrenosum, acne syndrome MONDO:0011462 exactMatch http://glycosmos.org/glycogene/659 659 BMPR2 activin receptor activity, type I | transforming growth factor beta receptor activity, type II | transforming growth factor beta receptor activity | BMP binding | protein tyrosine kinase binding | cadherin binding | ATP binding | transforming growth factor beta receptor activity, type I | protein binding | BMP receptor activity | growth factor binding | activin receptor activity, type II | metal ion binding | transforming growth factor beta receptor activity, type III http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | http://nanbyodata.jp/ontology/NANDO_2200298 NANDO:2200298 小児慢性特定疾病 Specific pediatric chronic disease 肺動脈性肺高血圧症 Pulmonary arterial hypertension MONDO:0015924 exactMatch http://glycosmos.org/glycogene/672 672 BRCA1 RNA binding | histone H2AK127 ubiquitin ligase activity | DNA binding | zinc ion binding | damaged DNA binding | RNA polymerase binding | DNA-binding transcription activator activity | enzyme binding | ubiquitin-protein transferase activity | protein binding | ubiquitin protein ligase binding | histone H2AK129 ubiquitin ligase activity | p53 binding | ubiquitin modification-dependent histone binding | transcription coactivator activity | tubulin binding | transcription cis-regulatory region binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0140863 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0001216 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0140864 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061649 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042802 12419249 | 35351360 | 9662397 | | | 9662397 | | 15965487 | 12890688,17349954,19117993,20351172 | 10477523,10518542,10855792,11090615,11301010,11739404,11751867,11836499,11877377,12242698,12354784,12419185,12607005,14550570,14576433,14654789,15107825,15125843,15133502,15265711,15674350,15965487,16101277,16326698,16452482,17334399,17511879,17525332,17525340,17581638,17643121,17873885,18001824,18001825,18285836,18716619,19117993,19261748,19369211,20016594,20016603,20160719,20351172,21240188,21407215,21673012,21951318,21988832,22110403,22193777,22792074,22884692,23624935,23680151,24981860,26807646,26833090,28319063,29656893,29899443,31270457,31527615,32814053,33961781,34552057,34591612,8944023,9497340,9528852,9662397,9774970,9811458 | 17873885 | 35351360 | 15571721 | 35351360 | 20820192,9662397 | 12214252 | 20820192 | 29656893,34591612,8944023 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/675 675 BRCA2 histone acetyltransferase activity | protease binding | identical protein binding | single-stranded DNA binding | protein binding | gamma-tubulin binding | histone H4 acetyltransferase activity | histone H3 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043015 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0010484 9824164 | 15314155 | 21601571,25282148 | 20729832 | 10373512,10551859,11597317,12242698,12442171,15115758,15800615,15930293,15967112,16099937,16205630,16275750,17420451,17515903,17515904,17541404,18212739,18264088,19303847,19369211,19423707,19609323,19628690,20421506,20729832,20729859,21399666,21601571,21719596,22116401,22193777,22293751,24013206,24141787,24485656,24981860,25282148,25585578,26833090,28319063,30410870,31242413,33961781,34591612,39009827,9560268,9774970 | 17286961 | 9619837 | 9619837 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/867 867 CBL ephrin receptor binding | ubiquitin-protein transferase activity | ubiquitin protein ligase activity | zinc ion binding | cadherin binding | protein binding | SH3 domain binding | receptor tyrosine kinase binding | phosphotyrosine residue binding | calcium ion binding | phosphatidylinositol 3-kinase regulatory subunit binding http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0036312 18034775 | 15465819 | | | 25468996 | 10068674,10092522,10679202,11157475,11697890,11891219,12177062,12815057,14596919,15090612,15094368,15282549,15657067,15708858,15737992,15962011,16407834,16467851,16636290,16893902,16914641,16982329,17020880,17094785,17141222,17372230,17395426,17974561,18273061,18654987,19268472,19380743,20308550,20562913,20618440,20711168,20936779,21163258,21570973,21706016,22266821,23799367,24255178,25036637,25241761,25814554,27059931,28514442,29237719,30118682,31980649,32814053,33961781,35271311,36931259,5668240,7657591,8524328,8626543,8663231,9092538,9160881,9447983,9890970 | 9447983 | | | | http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/26580 26580 BSCL2 phospholipid binding | protein binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 30293840 | 16189514,25416956,30901948,30970241,31515488,31708432,32814053 http://nanbyodata.jp/ontology/NANDO_2200465 NANDO:2200465 小児慢性特定疾病 Specific pediatric chronic disease 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 closeMatch http://glycosmos.org/glycogene/256471 256471 MFSD8 fluoride channel activity | chloride channel activity | iodide transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0062054 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0015111 34910516 | 34910516 | 34910516 http://nanbyodata.jp/ontology/NANDO_2200573 NANDO:2200573 小児慢性特定疾病 Specific pediatric chronic disease 神経セロイドリポフスチン症 Neuronal ceroid lipofuscinoses MONDO:0016295 exactMatch http://glycosmos.org/glycogene/26012 26012 NSMF protein binding | calcium-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/26012 26012 NSMF protein binding | calcium-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/7915 7915 ALDH5A1 succinate-semialdehyde dehydrogenase (NAD+) activity | identical protein binding http://purl.obolibrary.org/obo/GO_0004777 | http://purl.obolibrary.org/obo/GO_0042802 16199352,7814412,9683595 | 16199352 http://nanbyodata.jp/ontology/NANDO_2200599 NANDO:2200599 小児慢性特定疾病 Specific pediatric chronic disease コハク酸セミアルデヒド脱水素酵素欠損症 Succinic semialdehyde dehydrogenase deficiency MONDO:0010083 exactMatch http://glycosmos.org/glycogene/3030 3030 HADHA NAD+ binding | protein-containing complex binding | long-chain-3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-acetyltransferase activity | 3-hydroxyacyl-CoA dehydratase activity | 3-hydroxyacyl-CoA dehydrogenase activity | fatty-acyl-CoA binding | protein binding http://purl.obolibrary.org/obo/GO_0070403 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0016509 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 8135828 | | 8135828 | | 20562859,28514442,29915090,30850536,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200515 NANDO:2200515 小児慢性特定疾病 Specific pediatric chronic disease 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 exactMatch http://glycosmos.org/glycogene/3032 3032 HADHB lncRNA binding | acetyl-CoA C-acyltransferase activity | acetyl-CoA C-acetyltransferase activity | RNA binding | 3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-myristoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0003988 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0050633 | http://purl.obolibrary.org/obo/GO_0005515 | 8135828 | | 22658674 | 1550553 | 1550553 | | 20562859,21527675,28514442,29915090,30850536,32243843,33961781 http://nanbyodata.jp/ontology/NANDO_2200515 NANDO:2200515 小児慢性特定疾病 Specific pediatric chronic disease 三頭酵素欠損症 Trifunctional protein deficiency MONDO:0012172 exactMatch http://glycosmos.org/glycogene/3043 3043 HBB haptoglobin binding | metal ion binding | heme binding | hemoglobin binding | organic acid binding | peroxidase activity | protein binding | oxygen carrier activity | oxygen binding | hemoglobin alpha binding http://purl.obolibrary.org/obo/GO_0031720 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031721 19740759 | | | 1512262 | | 19740759 | 10390349,10930828,11159543,11724557,1552945,15835899,16169070,25502805,28514442,28665412,29997244,30833564,31515488,32296183,33961781,37398436,6683087,9441940,9830011,9894000 | 11747442,1301199 | 11747442,28066926 | http://nanbyodata.jp/ontology/NANDO_2200624 NANDO:2200624 小児慢性特定疾病 Specific pediatric chronic disease 鎌状赤血球症 Sickle cell disease MONDO:0011382 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_2200423 NANDO:2200423 小児慢性特定疾病 Specific pediatric chronic disease 高安動脈炎 Takayasu arteritis MONDO:0017991 exactMatch http://glycosmos.org/glycogene/3113 3113 HLA-DPA1 peptide antigen binding | MHC class II receptor activity | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | 2461352 | | 28514442,33961781,34819669 http://nanbyodata.jp/ontology/NANDO_2200424 NANDO:2200424 小児慢性特定疾病 Specific pediatric chronic disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/3115 3115 HLA-DPB1 peptide antigen binding | MHC class II protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 20356827 | | 32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2200424 NANDO:2200424 小児慢性特定疾病 Specific pediatric chronic disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/3158 3158 HMGCS2 hydroxymethylglutaryl-CoA synthase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0004421 | http://purl.obolibrary.org/obo/GO_0042802 23751782 | 20346956 http://nanbyodata.jp/ontology/NANDO_2200498 NANDO:2200498 小児慢性特定疾病 Specific pediatric chronic disease 3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0011614 exactMatch http://glycosmos.org/glycogene/3172 3172 HNF4A DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | signaling receptor binding | nuclear receptor activity | sequence-specific double-stranded DNA binding | fatty acid binding | protein binding | protein homodimerization activity | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | zinc ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005504 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003682 10330009,12911579,16488887,7615825 | | 12220494 | 12193589 | 28473536 | 12220494 | 12855700,16488887,17932483,17978169,19549071,19846556,21532585,23714182,23714368,25910212,28128295,30530698,33961781,35140242 | 12220494 | 10551874,7615825 | | 16488887 | | | | http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/3251 3251 HPRT1 magnesium ion binding | guanine phosphoribosyltransferase activity | hypoxanthine phosphoribosyltransferase activity | nucleotide binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0052657 | http://purl.obolibrary.org/obo/GO_0004422 | http://purl.obolibrary.org/obo/GO_0000166 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 10360366 | 19527031,4208686 | 19527031,6300847,9521733 | | 25416956,25502805,31515488,32296183,8044844 | 16189514,19060904,25416956,25910212,31515488,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200586 NANDO:2200586 小児慢性特定疾病 Specific pediatric chronic disease ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症 Lesch-Nyhan syndrome MONDO:0010298 closeMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_2200560 NANDO:2200560 小児慢性特定疾病 Specific pediatric chronic disease 異染性白質ジストロフィー Metachromatic leukodystrophy MONDO:0018868 exactMatch http://glycosmos.org/glycogene/7849 7849 PAX8 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | thyroid-stimulating hormone receptor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | DNA binding | sequence-specific double-stranded DNA binding | protein binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0004996 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000976 | | 9590296 | 9388203 | 9388203,9590296 | 15961562,8861958,9590296 | 28473536 | 19010321,20195357,32296183 | 15356023 http://nanbyodata.jp/ontology/NANDO_2200330 NANDO:2200330 小児慢性特定疾病 Specific pediatric chronic disease 異所性甲状腺 Ectoic thyroid MONDO:0019854 exactMatch http://glycosmos.org/glycogene/7849 7849 PAX8 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | thyroid-stimulating hormone receptor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | DNA binding | sequence-specific double-stranded DNA binding | protein binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0004996 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000976 | | 9590296 | 9388203 | 9388203,9590296 | 15961562,8861958,9590296 | 28473536 | 19010321,20195357,32296183 | 15356023 http://nanbyodata.jp/ontology/NANDO_2200331 NANDO:2200331 小児慢性特定疾病 Specific pediatric chronic disease 無甲状腺症 Thyroid agenesis MONDO:0019855 exactMatch http://glycosmos.org/glycogene/5091 5091 PC identical protein binding | pyruvate carboxylase activity | ATP binding | biotin binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004736 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0009374 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 18297087,34547241 | 12437512,9585002 | | 8048912 | | 23861867,34547241 http://nanbyodata.jp/ontology/NANDO_2200519 NANDO:2200519 小児慢性特定疾病 Specific pediatric chronic disease ピルビン酸カルボキシラーゼ欠損症 Pyruvate carboxylase deficiency MONDO:0009949 exactMatch http://glycosmos.org/glycogene/5095 5095 PCCA enzyme binding | metal ion binding | biotin binding | protein binding | ATP binding | propionyl-CoA carboxylase activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009374 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004658 19157941 | | 3460076 | 20725044,32296183,33961781 | | 6765947,8434582 http://nanbyodata.jp/ontology/NANDO_2200492 NANDO:2200492 小児慢性特定疾病 Specific pediatric chronic disease プロピオン酸血症 Propionic acidemia MONDO:0011628 exactMatch http://glycosmos.org/glycogene/5096 5096 PCCB protein binding | propionyl-CoA carboxylase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004658 | http://purl.obolibrary.org/obo/GO_0005524 20725044,32296183,33961781 | 6765947 | http://nanbyodata.jp/ontology/NANDO_2200492 NANDO:2200492 小児慢性特定疾病 Specific pediatric chronic disease プロピオン酸血症 Propionic acidemia MONDO:0011628 exactMatch http://glycosmos.org/glycogene/5105 5105 PCK1 GDP binding | carboxylic acid binding | phosphoenolpyruvate carboxykinase (GTP) activity | magnesium ion binding | protein serine kinase activity (using GTP as donor) | manganese ion binding | GTP binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0031406 | http://purl.obolibrary.org/obo/GO_0004613 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0106264 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0005525 | 11851336 | 11851336,26971250,30193097,32322062 | 11851336 | 32322062 | 11851336 | 11851336 http://nanbyodata.jp/ontology/NANDO_2200536 NANDO:2200536 小児慢性特定疾病 Specific pediatric chronic disease ホスホエノールピルビン酸カルボキシキナーゼ欠損症 Phosphoenolpyruvate carboxykinase deficiency MONDO:0017320 exactMatch http://glycosmos.org/glycogene/5106 5106 PCK2 protein binding | GTP binding | manganese ion binding | phosphoenolpyruvate carboxykinase activity | phosphoenolpyruvate carboxykinase (GTP) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0004611 | http://purl.obolibrary.org/obo/GO_0004613 21988832 | | 28955899 | 8645161 | 28955899,9657976 http://nanbyodata.jp/ontology/NANDO_2200536 NANDO:2200536 小児慢性特定疾病 Specific pediatric chronic disease ホスホエノールピルビン酸カルボキシキナーゼ欠損症 Phosphoenolpyruvate carboxykinase deficiency MONDO:0017320 exactMatch http://glycosmos.org/glycogene/5195 5195 PEX14 protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding http://purl.obolibrary.org/obo/GO_0008320 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0008017 28765278 | 10562279,10704444,11863372,12096124,12488033,19197237,19584060,21525035,21976670,24235149,29997244,31467278,32296183,37398436,9653144 | 10022913,21525035 | 11863372 | 12488033 | 11438541,24235149,28765278 | 21525035 | 21525035 http://nanbyodata.jp/ontology/NANDO_2200575 NANDO:2200575 小児慢性特定疾病 Specific pediatric chronic disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/5265 5265 SERPINA1 protease binding | identical protein binding | protein binding | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004867 15853774 | 11057674,18923394,21909074,22405009 | 11057674,12860985,12878203,15271889,15845869,16192646,16321984,17380188,20477988,22115549,23826168,31142615,31358993,32814053,33741941 | 12878203,15795238 http://nanbyodata.jp/ontology/NANDO_2200611 NANDO:2200611 小児慢性特定疾病 Specific pediatric chronic disease α1-アンチトリプシン欠損症 Alpha-1-antitrypsin deficiency MONDO:0013282 exactMatch http://glycosmos.org/glycogene/5313 5313 PKLR pyruvate kinase activity | kinase activity | monosaccharide binding | potassium ion binding | magnesium ion binding | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0004743 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0048029 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 1445295 | | | | | | 32296183 http://nanbyodata.jp/ontology/NANDO_2200628 NANDO:2200628 小児慢性特定疾病 Specific pediatric chronic disease ピルビン酸キナーゼ欠乏性貧血 Hemolytic anemia due to red cell pyruvate kinase deficiency MONDO:0009950 exactMatch http://glycosmos.org/glycogene/5447 5447 POR NADPH-hemoprotein reductase activity | flavin adenine dinucleotide binding | protein binding | FMN binding | NADP binding http://purl.obolibrary.org/obo/GO_0003958 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0010181 | http://purl.obolibrary.org/obo/GO_0050661 10048323,19448135,2513880 | | 21081644,35271311 | | http://nanbyodata.jp/ontology/NANDO_2200375 NANDO:2200375 小児慢性特定疾病 Specific pediatric chronic disease P450酸化還元酵素欠損症 P450 oxidoreductase deficiency MONDO:0013310 exactMatch http://glycosmos.org/glycogene/5468 5468 PPARG prostaglandin receptor activity | peptide binding | zinc ion binding | alpha-actinin binding | enzyme binding | STAT family protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | double-stranded DNA binding | nucleic acid binding | arachidonic acid binding | WW domain binding | DNA-binding transcription factor binding | nuclear receptor activity | nuclear retinoid X receptor binding | DNA binding | DNA-binding transcription factor activity | sequence-specific DNA binding | LBD domain binding | R-SMAD binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding domain binding | identical protein binding | chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | transcription coregulator binding | E-box binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0004955 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0050544 | http://purl.obolibrary.org/obo/GO_0050699 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0050693 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0050692 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0000976 9568715 | 19043829 | 19043829 | 22351778 | 12039952 | 28467929 | | 12040021,12522104,14701856,15722453,16239304,17500595,19043829,19047629,19846556,20195357,20211142,20660480,21478865,21775429,22078880,22351778,25609649,32296183,32814053,35140242 | 19043829 | 19043829 | 9568715 | 22292086 | 10622252 | 10622252,12955147,16239304,18293083 | 19043829,9568715 | 18382765 | 9568715 | 9568716 | 19043829 | 31023188 | 25704091 | 19043829 | 17937915,25609649 | | 25704091 | | 14701856 | | 18293083 http://nanbyodata.jp/ontology/NANDO_2200465 NANDO:2200465 小児慢性特定疾病 Specific pediatric chronic disease 脂肪萎縮性糖尿病 Lipoatrophic diabetes MONDO:0018883 closeMatch http://glycosmos.org/glycogene/5657 5657 PRTN3 signaling receptor binding | enzyme binding | serine-type peptidase activity | serine-type endopeptidase activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 17244676 | 17712045 | 2679910 | 11389039,22266279,23202369,28240246 | 16488976,28240246,30692621 http://nanbyodata.jp/ontology/NANDO_2200424 NANDO:2200424 小児慢性特定疾病 Specific pediatric chronic disease 多発血管炎性肉芽腫症 Granulomatosis with polyangiitis MONDO:0012105 exactMatch http://glycosmos.org/glycogene/5781 5781 PTPN11 peptide hormone receptor binding | cell adhesion molecule binding | protein tyrosine phosphatase activity | cadherin binding | signaling receptor complex adaptor activity | protein kinase binding | receptor tyrosine kinase binding | protein tyrosine kinase binding | non-membrane spanning protein tyrosine phosphatase activity | protein binding | histone H2AXY142 phosphatase activity | phosphotyrosine residue binding | molecular adaptor activity | protein tyrosine phosphatase activity, metal-dependent | insulin receptor binding | phosphoprotein phosphatase activity http://purl.obolibrary.org/obo/GO_0051428 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0004721 | 15985432 | 10206955,15133037,17562706,22759635,23029125,26617336,26742426,28074573 | 15985432 | 7493946 | | | 15985432 | 10655584,16481357 | 10206955,10540326,10655584,10660596,10681522,10704309,10887109,11323411,11453982,12051764,12577067,12614164,12855672,14665621,14701753,15133037,15170389,15240681,15574420,15985432,16253990,16254138,16273093,16337946,16339535,16354697,16963136,17562706,17936057,17947393,18579758,18604210,19172738,19275884,19380743,19509291,19843936,20308328,20473329,20933011,21516116,21706016,23112346,23397142,24642916,24728074,24935154,25416956,26742426,26755705,27229929,28046066,28065597,29997244,31515488,31585087,31980649,32296183,33961781,34310951,35384245,7493946,7504175,7513703,7523381,7530043,7642582,7688466,8119896,8183548,8538796,8648092,8810330,8895367,9312087,9535915,9593725,9632781,9658397,9774457,9792637 | | 11986327 | 26358190 | | 7493946 | 15133037 http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/5824 5824 PEX19 protein carrier chaperone | peroxisome membrane class-1 targeting sequence binding | protein binding | peroxisome membrane targeting sequence binding | ATPase binding http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0036105 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033328 | http://purl.obolibrary.org/obo/GO_0051117 11402059,14709540 | 14709540 | 10704444,10777694,11402059,11590176,11883941,12096124,12488033,14709540,15713480,16189514,16280322,16344115,16763195,18174172,18782765,19114594,19197237,19715730,20531392,21102411,21525035,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,34819669,35271311,37398436,38225382 | | 11453642 http://nanbyodata.jp/ontology/NANDO_2200575 NANDO:2200575 小児慢性特定疾病 Specific pediatric chronic disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/5889 5889 RAD51C DNA binding | crossover junction DNA endonuclease activity | ATP-dependent DNA damage sensor activity | four-way junction DNA binding | protein binding | ATP binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008821 | http://purl.obolibrary.org/obo/GO_0140664 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 9469824 | 14716019 | | 20207730 | 11751635,11842113,16395335,21965664,24005329,24141787,26496610,28514442,28864920,32296183,33961781,34591612,35849344,9469824 | http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/5894 5894 RAF1 protein serine/threonine kinase activity | histone H3T45 kinase activity | histone H3S57 kinase activity | histone H3S10 kinase activity | zinc ion binding | protein binding | protein serine kinase activity | protein kinase activity | histone H2AXS139 kinase activity | histone H2AS1 kinase activity | identical protein binding | histone H2BS14 kinase activity | histone H4S1 kinase activity | small GTPase binding | DNA-dependent protein kinase activity | histone H2BS36 kinase activity | enzyme binding | AMP-activated protein kinase activity | histone H3T11 kinase activity | histone H3S28 kinase activity | ATP binding | 3-phosphoinositide-dependent protein kinase activity | histone H3T6 kinase activity | metal ion binding | histone H2AS121 kinase activity | ribosomal protein S6 kinase activity | MAP kinase kinase kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T3 kinase activity | histone H2AT120 kinase activity | Rho-dependent protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004709 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072518 19667065 | | | | | 10433554,10523642,11697890,11909642,12620389,14688280,15778465,15935327,16239230,16306228,16330544,16405965,16837009,17097642,17229891,17724343,17979178,18064632,18073111,18273062,18641128,19049963,19063885,19164755,19197339,19222999,19595761,19696784,20052757,20080631,20130576,20133694,20141835,20178605,20179103,20179161,20679480,20802526,21139044,21457714,21478863,21536655,21831839,21988832,22169110,22510884,22886302,22886303,22939624,23327923,23680146,23934108,24008843,24189400,24255178,24330068,24736947,24746704,24929361,25036637,25137548,25155755,25684575,25852190,26466569,26496610,28514442,30194290,31024343,31980649,32296183,32707033,32814053,33961781,34591612,34591642,35044719,35271311,36931259,37045861,39251607,7644510,7760835,7791872,7882972,7935795,7939632,8085158,8332187,8601312,8670882,8756332,9144171,9624170 | | 9446616 | | | 17979178,20130576,22169110,22510884 | | | 12194967 | | | 23509299 | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6138 6138 RPL15 cadherin binding | protein binding | structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 25468996 | 21612406,24965446,25416956,32296183,32814053 | 12962325,23636399,32669547 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6141 6141 RPL18 structural constituent of ribosome | RNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 12962325,23636399,32669547 | | 30021884,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6154 6154 RPL26 structural constituent of ribosome | mRNA 5'-UTR binding | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 12962325,18697920,23636399,32669547 | 16213212 | 16213212,24965446,26100019 | 22681889 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6165 6165 RPL35A RNA binding | tRNA binding | protein binding | structural constituent of ribosome http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003735 22658674,22681889 | | 24965446,32814053 | 12962325,18697920,23636399,32669547 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6218 6218 RPS17 structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 15883184,17647292,18412286,18697920,23636399 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6223 6223 RPS19 fibroblast growth factor binding | identical protein binding | protein binding | protein kinase binding | structural constituent of ribosome | RNA binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 11716516 | 11226885 | 16266891,24965446,30021884,32296183,32814053,33961781,35271311 | 16266891 | 15883184,18697920,23636399 | 22681889 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6229 6229 RPS24 RNA binding | structural constituent of ribosome | translation initiation factor binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0031369 22658674,22681889 | 15883184,18412286,18697920,23636399 | http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6234 6234 RPS28 structural constituent of ribosome | RNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 15883184,18697920,23636399 | 22658674,22681889 | 25416956,32296183 http://nanbyodata.jp/ontology/NANDO_2200614 NANDO:2200614 小児慢性特定疾病 Specific pediatric chronic disease 先天性赤芽球癆 Congenital red cell aplasia MONDO:0015253 exactMatch http://glycosmos.org/glycogene/6513 6513 SLC2A1 protein binding | D-glucose transmembrane transporter activity | identical protein binding | dehydroascorbic acid transmembrane transporter activity | kinase binding | xenobiotic transmembrane transporter activity | fucose transmembrane transporter activity | glucose transmembrane transporter activity | long-chain fatty acid transporter activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0042910 | http://purl.obolibrary.org/obo/GO_0015150 | http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005324 18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690 http://nanbyodata.jp/ontology/NANDO_2200545 NANDO:2200545 小児慢性特定疾病 Specific pediatric chronic disease グルコーストランスポーター1欠損症 Glucose transporter 1 deficiency MONDO:0011724 exactMatch http://glycosmos.org/glycogene/6521 6521 SLC4A1 chloride transmembrane transporter activity | ankyrin binding | protein-membrane adaptor activity | monoatomic anion transmembrane transporter activity | hemoglobin binding | bicarbonate transmembrane transporter activity | solute:inorganic anion antiporter activity | protein binding | protein homodimerization activity | chloride:bicarbonate antiporter activity http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0008509 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005452 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0140900 | 379653 | 10950304 | 4027230 | | 24121512 | 14734552,24121512 | 16669616,19438409,20980406,2204832,23219802,25012180,26049106,26823170,28387307,32296183 | 379653 | 28387307 http://nanbyodata.jp/ontology/NANDO_2200622 NANDO:2200622 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 exactMatch http://glycosmos.org/glycogene/6654 6654 SOS1 protein heterodimerization activity | SH3 domain binding | epidermal growth factor receptor binding | protein kinase binding | GTPase activator activity | molecular condensate scaffold activity | guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0005154 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 9790532 | 27056844 | 1371879,16483568,7731718 | 10026169,10206341,12029088,12482578,12577067,12628188,14679214,15507210,16520382,17084389,17141806,17474147,17515907,18454158,19141281,19323566,19380743,19464300,20133692,20473329,21706016,21988832,23397142,25241761,26005835,28514442,30631038,31980649,32296183,33961781,34591642,7527391,7629138,7773779,9020117,9447984,9544989,9569023,9690470 http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6655 6655 SOS2 protein heterodimerization activity | guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 | | 14679214,17474147,19380743,20936779,21706016,21988832,28514442,31980649,33961781,7629138 http://nanbyodata.jp/ontology/NANDO_2200413 NANDO:2200413 小児慢性特定疾病 Specific pediatric chronic disease ヌーナン症候群 Noonan syndrome MONDO:0018997 exactMatch http://glycosmos.org/glycogene/6662 6662 SOX9 beta-catenin binding | cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding | protein kinase A catalytic subunit binding | DNA-binding transcription factor activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding | bHLH transcription factor binding | DNA-binding transcription factor activity | protein binding | pre-mRNA intronic binding http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0043425 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0097157 | 10805756 | 20484372,20530484,21367821,22110751,31194875 | 20484372 | 10805756 | 20484372,21412441 | 28473536 | 20530484,22110751 | 31194875 | | 10805756,8640233 | 12810722,20530484,21346191,28263186 | http://nanbyodata.jp/ontology/NANDO_2200387 NANDO:2200387 小児慢性特定疾病 Specific pediatric chronic disease 卵精巣性性分化疾患 Ovotesticular dsd MONDO:0016281 exactMatch http://glycosmos.org/glycogene/6708 6708 SPTA1 calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0051015 | 12820899,20197550,32296183,33961781,9593709 | 1634521 | http://nanbyodata.jp/ontology/NANDO_2200622 NANDO:2200622 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性球状赤血球症 Hereditary spherocytosis MONDO:0019350 exactMatch http://glycosmos.org/glycogene/54756 54756 IL17RD protein binding | interleukin-17 receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 33961781,34819669 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/389549 389549 FEZF1 DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | zinc ion binding | metal ion binding | protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001227 | | | | 32296183 | http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/29089 29089 UBE2T chromatin binding | ATP binding | ubiquitin-protein transferase activity | protein binding | ubiquitin protein ligase binding | ubiquitin conjugating enzyme activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061631 17938197 | | 16916645,17938197,19111657,20061386 | 24389026,32814053 | 16916645,17938197,19111657 | 19589784 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/54790 54790 TET2 protein binding | methylcytosine dioxygenase activity | DNA binding | zinc ion binding | ferrous iron binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070579 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008198 23222540,23353889,25601757,28514442,29735542,32814053,33961781,34667079 | 21057493,23222540,24315485,32518946 | | 24315485 | 24315485 http://nanbyodata.jp/ontology/NANDO_2200643 NANDO:2200643 小児慢性特定疾病 Specific pediatric chronic disease 真性多血症 Polycythemia vera MONDO:0009891 exactMatch http://glycosmos.org/glycogene/27241 27241 BBS9 protein binding | molecular_function http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003674 17574030,19081074,20080638,22072986,22139371,22500027,24550735,25552655,27173435,28514442,29039417,33961781 | http://nanbyodata.jp/ontology/NANDO_2200414 NANDO:2200414 小児慢性特定疾病 Specific pediatric chronic disease バルデー・ビードル症候群 Bardet-Biedl syndrome MONDO:0015229 exactMatch http://glycosmos.org/glycogene/8822 8822 FGF17 type 2 fibroblast growth factor receptor binding | growth factor activity | protein binding | type 1 fibroblast growth factor receptor binding http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005105 16384934 | | 32296183 | 16384934 http://nanbyodata.jp/ontology/NANDO_2200381 NANDO:2200381 小児慢性特定疾病 Specific pediatric chronic disease カルマン症候群 Kallmann syndrome MONDO:0018800 exactMatch http://glycosmos.org/glycogene/8822 8822 FGF17 type 2 fibroblast growth factor receptor binding | growth factor activity | protein binding | type 1 fibroblast growth factor receptor binding http://purl.obolibrary.org/obo/GO_0005111 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005105 16384934 | | 32296183 | 16384934 http://nanbyodata.jp/ontology/NANDO_2200382 NANDO:2200382 小児慢性特定疾病 Specific pediatric chronic disease 低ゴナドトロピン性性腺機能低下症 Hypogonadotropic hypogonadism MONDO:0018555 exactMatch http://glycosmos.org/glycogene/56922 56922 MCCC1 ATP binding | biotin carboxylase activity | methylcrotonoyl-CoA carboxylase activity | metal ion binding | protein binding | biotin binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004075 | http://purl.obolibrary.org/obo/GO_0004485 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009374 | 22869039 | 11170888,11181649,11401427,17360195 | | 17360195,27499296,28514442,33961781 | 11401427 http://nanbyodata.jp/ontology/NANDO_2200495 NANDO:2200495 小児慢性特定疾病 Specific pediatric chronic disease 3-メチルクロトニルCoAカルボキシラーゼ欠損症 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 exactMatch http://glycosmos.org/glycogene/8799 8799 PEX11B identical protein binding | protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 17408615 | 20826455 | 10704444,12096124,14709540,17408615,18782765,20531392,20826455,25416956,29997244,31467278,32814053,37398436 http://nanbyodata.jp/ontology/NANDO_2200575 NANDO:2200575 小児慢性特定疾病 Specific pediatric chronic disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/8504 8504 PEX3 protein binding | lipid binding | protein-macromolecule adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0030674 10704444,11883941,12096124,16189514,16280322,18174172,19715730,21102411,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35271311,37398436,38225382 | 19715730 | http://nanbyodata.jp/ontology/NANDO_2200575 NANDO:2200575 小児慢性特定疾病 Specific pediatric chronic disease ペルオキシソーム形成異常症 Peroxisome biogenesis disorders MONDO:0019234 exactMatch http://glycosmos.org/glycogene/26060 26060 APPL1 protein homodimerization activity | phosphatidylinositol binding | beta-tubulin binding | protein-containing complex binding | phosphatidylserine binding | identical protein binding | protein kinase B binding | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035091 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0043422 | http://purl.obolibrary.org/obo/GO_0005515 18034774 | 18034774 | 26583432 | 15016378 | 18034774 | 17502098,17581628,18034774,25416956,31515488,32296183,35271311 | 17848569 | 10490823,12011067,15016378,16189514,16273093,16622416,17030088,17581628,18034774,19433865,19661063,21233288,21291857,21645192,23414517,23752268,24879834,25241761,25416956,25814554,26583432,28514442,29568061,31515488,32296183,33961781,35271311,35384245 http://nanbyodata.jp/ontology/NANDO_2200462 NANDO:2200462 小児慢性特定疾病 Specific pediatric chronic disease 若年発症成人型糖尿病 Maturity-onset diabetes of the young MONDO:0018911 exactMatch http://glycosmos.org/glycogene/79728 79728 PALB2 protein binding | DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 17420451,19369211,19423707,19609323,20332121,20871616,22193777,22244764,22293751,24141787,24485656,25960410,26833090,28319063,28514442,29656893,30410870,32296183,33961781,34591612 | 20871616 http://nanbyodata.jp/ontology/NANDO_2200652 NANDO:2200652 小児慢性特定疾病 Specific pediatric chronic disease ファンコニ貧血 Fanconi anemia MONDO:0019391 exactMatch http://glycosmos.org/glycogene/3293 3293 HSD17B3 testosterone dehydrogenase [NAD(P)] activity | protein binding | estradiol 17-beta-dehydrogenase [NAD(P)] activity | testosterone 17-beta-dehydrogenase (NADP+) activity http://purl.obolibrary.org/obo/GO_0030283 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004303 | http://purl.obolibrary.org/obo/GO_0047045 | 28514442,33961781 | | 26545797 http://nanbyodata.jp/ontology/NANDO_2200390 NANDO:2200390 小児慢性特定疾病 Specific pediatric chronic disease 17β-ヒドロキシステロイド脱水素酵素欠損症 17 beta-hydroxysteroid dehydrogenase deficiency MONDO:0009916 exactMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_2200548 NANDO:2200548 小児慢性特定疾病 Specific pediatric chronic disease ムコ多糖症II型 Mucopolysaccharidosis type II MONDO:0010674 exactMatch http://glycosmos.org/glycogene/3480 3480 IGF1R identical protein binding | insulin-like growth factor I binding | hepatocyte growth factor receptor activity | phosphatidylinositol 3-kinase binding | insulin receptor binding | ATP binding | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | protein binding | G-protein alpha-subunit binding | boss receptor activity | insulin-like growth factor binding | structural molecule activity | insulin-like growth factor receptor activity | insulin receptor activity | protein transporter activity | protein tyrosine kinase activity | stem cell factor receptor activity | insulin receptor substrate binding | platelet-derived growth factor beta-receptor activity | protein-containing complex binding | platelet-derived growth factor alpha-receptor activity | insulin binding | placental growth factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | protein tyrosine kinase collagen receptor activity | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0043548 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001965 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005520 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0140318 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0043559 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 11448933,17586502,21645859 | 19578119,8452530 | | 7541045 | 8452530 | | | | 10026153,11724822,12482592,12556535,15289498,15878855,15976035,15998644,16926280,21645859,22245152,22261717,25241761,25416956,26027733,26692333,28065597,32296183,34591642,35384245,36931259,7541045,7589433,7642582,8452530,8603569,8895367,8999839,9480911,9727029 | | | 1846292,7679099 | 1846292 | 7679099 | | 16306401 | 11162456,11884589,7679099 | | 7541045 | | | | 8452530 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200320 NANDO:2200320 小児慢性特定疾病 Specific pediatric chronic disease インスリン様成長因子1不応症 IGF1 insensitivity MONDO:0010038 exactMatch http://glycosmos.org/glycogene/3593 3593 IL12B cytokine receptor activity | interleukin-12 alpha subunit binding | identical protein binding | protein-containing complex binding | protein binding | protein heterodimerization activity | cytokine activity | interleukin-23 receptor binding | interleukin-12 receptor binding | growth factor activity | cytokine binding http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0042164 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0045519 | http://purl.obolibrary.org/obo/GO_0005143 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0019955 | 11023671 | 7527811 | | 10899108,11023671,11114383,12023369,18680750,29997244,7527811 | 11023671,1674604 | 1674604,7584494 | 11114383 | 1674604,9603733 | 1674604 | http://nanbyodata.jp/ontology/NANDO_2200423 NANDO:2200423 小児慢性特定疾病 Specific pediatric chronic disease 高安動脈炎 Takayasu arteritis MONDO:0017991 exactMatch http://glycosmos.org/glycogene/538 538 ATP7A cuprous ion binding | P-type monovalent copper transporter activity | copper ion binding | copper ion transmembrane transporter activity | ATP hydrolysis activity | ATP binding | protein binding | protein-folding chaperone binding | P-type divalent copper transporter activity | superoxide dismutase copper chaperone activity | copper-dependent protein binding | small GTPase binding http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005375 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0016532 | http://purl.obolibrary.org/obo/GO_0032767 | http://purl.obolibrary.org/obo/GO_0031267 14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | http://nanbyodata.jp/ontology/NANDO_2200580 NANDO:2200580 小児慢性特定疾病 Specific pediatric chronic disease メンケス病 Menkes disease MONDO:0010651 exactMatch http://glycosmos.org/glycogene/538 538 ATP7A cuprous ion binding | P-type monovalent copper transporter activity | copper ion binding | copper ion transmembrane transporter activity | ATP hydrolysis activity | ATP binding | protein binding | protein-folding chaperone binding | P-type divalent copper transporter activity | superoxide dismutase copper chaperone activity | copper-dependent protein binding | small GTPase binding http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005375 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0016532 | http://purl.obolibrary.org/obo/GO_0032767 | http://purl.obolibrary.org/obo/GO_0031267 14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | http://nanbyodata.jp/ontology/NANDO_2200581 NANDO:2200581 小児慢性特定疾病 Specific pediatric chronic disease オクシピタル・ホーン症候群 Occipital horn syndrome MONDO:0010572 exactMatch http://glycosmos.org/glycogene/540 540 ATP7B ATP hydrolysis activity | copper ion binding | protein binding | ATP binding | P-type divalent copper transporter activity | P-type monovalent copper transporter activity | copper ion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043682 | http://purl.obolibrary.org/obo/GO_0140581 | http://purl.obolibrary.org/obo/GO_0005375 | 12029094,14709553 | 12968035,16554302,16676348,16884690,17919502 | 15205462,16567646 | 12763797,16472602,9837819 | | 26004889 http://nanbyodata.jp/ontology/NANDO_2200579 NANDO:2200579 小児慢性特定疾病 Specific pediatric chronic disease ウィルソン病 Wilson disease MONDO:0010200 exactMatch http://glycosmos.org/glycogene/554 554 AVPR2 protein binding | vasopressin receptor activity | peptide binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005000 | http://purl.obolibrary.org/obo/GO_0042277 12409230,21056967,23236378,32296183 | 8882880,9322919 | http://nanbyodata.jp/ontology/NANDO_2200326 NANDO:2200326 小児慢性特定疾病 Specific pediatric chronic disease 腎性尿崩症 Nephrogenic diabetes insipidus MONDO:0016383 exactMatch http://glycosmos.org/glycogene/583 583 BBS2 RNA polymerase II-specific DNA-binding transcription factor binding | protein binding http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 22302990 | 16189514,16327777,17574030,18000879,18762586,20080638,22139371,22500027,25416956,25552655,27173435,28514442,29039417,32296183,33144677,33961781 http://nanbyodata.jp/ontology/NANDO_2200414 NANDO:2200414 小児慢性特定疾病 Specific pediatric chronic disease バルデー・ビードル症候群 Bardet-Biedl syndrome MONDO:0015229 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_2200851 NANDO:2200851 小児慢性特定疾病 Specific pediatric chronic disease 脳動静脈奇形 Cerebral arteriovenous malformation MONDO:0007154 exactMatch http://glycosmos.org/glycogene/58 58 ACTA1 ATP binding | hydrolase activity | ADP binding | myosin binding | structural constituent of cytoskeleton | protein binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 10508519 | | 10508519 | 10508519 | 10508519 | 12849983,18835984,28514442,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200868 NANDO:2200868 小児慢性特定疾病 Specific pediatric chronic disease 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/10522 10522 DEAF1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | metal ion binding | zinc ion binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 24726472 | | | | 24726472 | 20368287,21988832,22442688,29636529,30824926,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200954 NANDO:2200954 小児慢性特定疾病 Specific pediatric chronic disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/128674 128674 PROKR2 protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930 32296183 | | http://nanbyodata.jp/ontology/NANDO_2200820 NANDO:2200820 小児慢性特定疾病 Specific pediatric chronic disease 中隔視神経形成異常症 Septo-optic dysplasia MONDO:0008428 exactMatch http://glycosmos.org/glycogene/90 90 ACVR1 transforming growth factor beta receptor activity, type III | transforming growth factor beta receptor activity, type I | metal ion binding | protein tyrosine kinase binding | ATP binding | transforming growth factor beta binding | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type II | protein kinase activity | protein binding | cadherin binding | protein serine/threonine kinase activity | activin binding | peptide hormone binding | activin receptor activity, type II | protein homodimerization activity | activin receptor activity, type I | BMP receptor activity | SMAD binding http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0046332 | | | 26598555 | 12065756 | 8242742 | 19506109,19736306,8242742 | | 19736306 | 11266516,18436533,21791611,31483918,8242742,8555189 | 26598555 | 12065756 | 8242742 | 12702211 | | 18436533 | 8242742 | 12065756 | 12065756 http://nanbyodata.jp/ontology/NANDO_2201020 NANDO:2201020 小児慢性特定疾病 Specific pediatric chronic disease 進行性骨化性線維異形成症 Fibrodysplasia ossificans progressiva MONDO:0007606 exactMatch http://glycosmos.org/glycogene/1080 1080 CFTR 14-3-3 protein binding | bicarbonate transmembrane transporter activity | protein binding | Sec61 translocon complex binding | chloride transmembrane transporter activity | chloride channel regulator activity | chloride channel inhibitor activity | protein-folding chaperone binding | ATPase-coupled inorganic anion transmembrane transporter activity | ATP binding | ATP hydrolysis activity | enzyme binding | chloride channel activity | PDZ domain binding | ATPase-coupled transmembrane transporter activity | intracellularly ATP-gated chloride channel activity | ABC-type transporter activity | isomerase activity http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106138 | http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0017081 | http://purl.obolibrary.org/obo/GO_0019869 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0043225 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005260 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0016853 26888287 | 15010471,19019741 | 11707463,12369822,12471024,14679199,15247260,16203867,16546175,16901789,17110338,17244609,18555783,19289574,19465887,19878303,20658517,21455491,21884936,22038833,22121115,22178883,22768251,23818989,25661196,25712891,26618866,27092946,28360110,29924966,31324722,35156780,36012204,39009827,9671706,9792704 | 9792704 | | | 22178883 | 16207813 | | | 11524016,8910473 | 19398555 | 11524016,11707463,15010471,18570918,19019741,19621064,22178883,24885604 | 11707463 | | 11707463,8910473 | | http://nanbyodata.jp/ontology/NANDO_2200942 NANDO:2200942 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/1130 1130 LYST protein binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 11984006 | http://nanbyodata.jp/ontology/NANDO_2200724 NANDO:2200724 小児慢性特定疾病 Specific pediatric chronic disease チェディアック・東症候群 Chédiak-Higashi syndrome MONDO:0008963 exactMatch http://glycosmos.org/glycogene/1303 1303 COL12A1 extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0030020 1427837,20551380,23979707,25037231,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_2200862 NANDO:2200862 小児慢性特定疾病 Specific pediatric chronic disease ウルリヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1291 1291 COL6A1 protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 33961781 | 8900172 | 20551380,25037231,27559042,28327460,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_2200862 NANDO:2200862 小児慢性特定疾病 Specific pediatric chronic disease ウルリヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1292 1292 COL6A2 protein binding | extracellular matrix structural constituent conferring tensile strength | collagen binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518 12812986 | 20551380,25037231,27559042,28327460,28344315,28675934 | 18400749 http://nanbyodata.jp/ontology/NANDO_2200862 NANDO:2200862 小児慢性特定疾病 Specific pediatric chronic disease ウルリヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1293 1293 COL6A3 serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020 | 20551380,25037231,27559042,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_2200862 NANDO:2200862 小児慢性特定疾病 Specific pediatric chronic disease ウルリヒ型先天性筋ジストロフィー Ullrich congenital muscular dystrophy MONDO:0000355 exactMatch http://glycosmos.org/glycogene/1311 1311 COMP collagen binding | heparan sulfate proteoglycan binding | protein binding | protease binding | proteoglycan binding | heparin binding | integrin binding | BMP binding | calcium ion binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005201 11084047 | 17588949 | 12225811,15075323,16051604,16611630,17588949,18485748,25416956,31515488,32296183 | 18485748 | 29030641 | 17588949 | | | 10852928,11084047 | 20551380 http://nanbyodata.jp/ontology/NANDO_2201018 NANDO:2201018 小児慢性特定疾病 Specific pediatric chronic disease 偽性軟骨無形成症 Pseudoachondroplasia MONDO:0008322 exactMatch http://glycosmos.org/glycogene/1476 1476 CSTB cysteine-type endopeptidase inhibitor activity | protease binding | RNA binding | endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0004869 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004866 3488317,6203523 | 11514663,6203523 | 22658674 | 3053245 http://nanbyodata.jp/ontology/NANDO_2200880 NANDO:2200880 小児慢性特定疾病 Specific pediatric chronic disease ウンフェルリヒト・ルントボルク病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/1501 1501 CTNND2 cadherin binding | protein binding | beta-catenin binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013 | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484 http://nanbyodata.jp/ontology/NANDO_2200961 NANDO:2200961 小児慢性特定疾病 Specific pediatric chronic disease 5p-症候群 5p- syndrome MONDO:0007404 exactMatch http://glycosmos.org/glycogene/1861 1861 TOR1A ATP-dependent protein folding chaperone | unfolded protein binding | protein binding | ATP hydrolysis activity | ATP binding | identical protein binding | misfolded protein binding | kinesin binding | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0140662 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051787 | http://purl.obolibrary.org/obo/GO_0019894 | http://purl.obolibrary.org/obo/GO_0008092 15505207,24930953 | 10814722 | 15147511,15505207,15767459,18167355,18827015,21102408,23569223,25416956,25910212,32296183,32814053,33961781 | 23569223 | | 20015956,24930953 | | 14970196 | 16361107,18827015 http://nanbyodata.jp/ontology/NANDO_2200884 NANDO:2200884 小児慢性特定疾病 Specific pediatric chronic disease 変形性筋ジストニー Dystonia musculorum deformans MONDO:0007492 exactMatch http://glycosmos.org/glycogene/1991 1991 ELANE protein binding | transcription corepressor activity | serine-type endopeptidase activity | heparin binding | peptidase activity | endopeptidase activity | cytokine binding | protease binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0002020 12114510,12223522,14688365,19506020,21979170,25211214,33748632 | 19506020 | 29539421,36899106 | 11907569 | 11907569,20421939 | 12887060,6980881 | 12393522 | 6980881 http://nanbyodata.jp/ontology/NANDO_2200746 NANDO:2200746 小児慢性特定疾病 Specific pediatric chronic disease 周期性好中球減少症 Cyclic neutropenia MONDO:0008090 exactMatch http://glycosmos.org/glycogene/3679 3679 ITGA7 metal ion binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | 22779914 | http://nanbyodata.jp/ontology/NANDO_2200868 NANDO:2200868 小児慢性特定疾病 Specific pediatric chronic disease 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/10008 10008 KCNE3 potassium channel regulator activity | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | transmembrane transporter binding | delayed rectifier potassium channel activity | protein binding | voltage-gated potassium channel activity http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005249 12954870 | | | | 20533308 | http://nanbyodata.jp/ontology/NANDO_2201515 NANDO:2201515 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/3784 3784 KCNQ1 transmembrane transporter binding | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | protein kinase A regulatory subunit binding | protein binding | protein kinase A catalytic subunit binding | calmodulin binding | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | outward rectifier potassium channel activity | voltage-gated potassium channel activity | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | phosphatidylinositol-4,5-bisphosphate binding | scaffold protein binding | protein phosphatase 1 binding http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0086008 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0008157 11101505,20196769,24855057,25037568 | 8528244 | 11799244 | 12324418,19521339,19687231,20533308,22024150,23529131,24595108 | 11799244 | 18165683 | 12522251,25786344 | 11101505,25705178,9312006 | 12324418,16002409,17289006,24595108,24855057,8900283,9305853 | 12522251 | 10400998,11299204,12522251,19646991,24184248,24269949,25037568,8900283,9354802 | 25037568 | 11799244,16002409,18093912 | 11799244 http://nanbyodata.jp/ontology/NANDO_2200959 NANDO:2200959 小児慢性特定疾病 Specific pediatric chronic disease ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome MONDO:0007534 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_2200851 NANDO:2200851 小児慢性特定疾病 Specific pediatric chronic disease 脳動静脈奇形 Cerebral arteriovenous malformation MONDO:0007154 exactMatch http://glycosmos.org/glycogene/10743 10743 RAI1 metal ion binding | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 16189514,25416956 | http://nanbyodata.jp/ontology/NANDO_2200954 NANDO:2200954 小児慢性特定疾病 Specific pediatric chronic disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/6729 6729 SRP54 endoplasmic reticulum signal peptide binding | 7S RNA binding | ATP hydrolysis activity | RNA binding | protein binding | GTP binding | ribonucleoprotein complex binding | GTPase activity | GDP binding http://purl.obolibrary.org/obo/GO_0030942 | http://purl.obolibrary.org/obo/GO_0008312 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0043021 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 9511762 | 18089836,9511762 | | 22658674 | 24965446,33053321 | 8622769 | 9511762 | 28972538,8247130 | 8622769 http://nanbyodata.jp/ontology/NANDO_2200756 NANDO:2200756 小児慢性特定疾病 Specific pediatric chronic disease シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome MONDO:0009833 exactMatch http://glycosmos.org/glycogene/50485 50485 SMARCAL1 ATP-dependent DNA/DNA annealing activity | helicase activity | hydrolase activity | protein binding | ATP binding | ATP-dependent activity, acting on DNA http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008094 18974355,22705370 | | | 19793862,19793863,24126761,24910198,24981860 | | http://nanbyodata.jp/ontology/NANDO_2200711 NANDO:2200711 小児慢性特定疾病 Specific pediatric chronic disease シムケ症候群 Schimke syndrome MONDO:0009458 exactMatch http://glycosmos.org/glycogene/284111 284111 SLC13A5 citrate transmembrane transporter activity | organic acid:sodium symporter activity | sodium:dicarboxylate symporter activity | protein binding | succinate transmembrane transporter activity | identical protein binding http://purl.obolibrary.org/obo/GO_0015137 | http://purl.obolibrary.org/obo/GO_0005343 | http://purl.obolibrary.org/obo/GO_0017153 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015141 | http://purl.obolibrary.org/obo/GO_0042802 21264516,26176240,30054523 | 12445824,26324167,33597751 | | 28514442,32296183,33961781 | | 33597751 http://nanbyodata.jp/ontology/NANDO_2201409 NANDO:2201409 小児慢性特定疾病 Specific pediatric chronic disease ビタミンB6依存性てんかん Vitamine B6-dependent epilepsy MONDO:0009945 exactMatch http://glycosmos.org/glycogene/11330 11330 CTRC protein binding | serine-type endopeptidase activity | peptidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008233 25416956,28514442,32296183,33961781 | | 8635596 http://nanbyodata.jp/ontology/NANDO_2200942 NANDO:2200942 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/23096 23096 IQSEC2 guanyl-nucleotide exchange factor activity | protein binding http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515 26793055 | 30842726,35271311 http://nanbyodata.jp/ontology/NANDO_2200954 NANDO:2200954 小児慢性特定疾病 Specific pediatric chronic disease スミス・マギニス症候群 Smith-Magenis syndrome MONDO:0008434 exactMatch http://glycosmos.org/glycogene/23347 23347 SMCHD1 ATP-dependent H3-H4 histone complex chaperone activity | DNA clamp loader activity | cohesin loader activity | ATP hydrolysis activity | ATP binding | protein binding | DNA binding | chromatin extrusion motor activity | ATP-dependent H2AZ histone chaperone activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0042803 | | | | | 23542155,26496610 | | | | http://nanbyodata.jp/ontology/NANDO_2200859 NANDO:2200859 小児慢性特定疾病 Specific pediatric chronic disease 顔面肩甲上腕型筋ジストロフィー Facioscapulohumeral muscular dystrophy MONDO:0001347 exactMatch http://glycosmos.org/glycogene/2131 2131 EXT1 protein heterodimerization activity | acetylglucosaminyltransferase activity | protein binding | glucuronosyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | metal ion binding | protein homodimerization activity | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0050508 12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275 http://nanbyodata.jp/ontology/NANDO_2201014 NANDO:2201014 小児慢性特定疾病 Specific pediatric chronic disease 多発性軟骨性外骨腫症 Multiple cartilaginous exostosis MONDO:0005508 closeMatch http://glycosmos.org/glycogene/2131 2131 EXT1 protein heterodimerization activity | acetylglucosaminyltransferase activity | protein binding | glucuronosyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | metal ion binding | protein homodimerization activity | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0050508 12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275 http://nanbyodata.jp/ontology/NANDO_2201015 NANDO:2201015 小児慢性特定疾病 Specific pediatric chronic disease 内軟骨腫症 Enchondromatosis MONDO:0005508 exactMatch http://glycosmos.org/glycogene/2132 2132 EXT2 protein binding | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | acetylglucosaminyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | protein homodimerization activity | metal ion binding | glucuronosyltransferase activity | protein heterodimerization activity | glycosyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0050508 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0016757 18337501,33961781,35137078,36402845,36593275 | 12907669,36593275 | 12907669 | 36593275 | 12907669 | 12907669 | | 12907669 | 12907669 | 12907669 http://nanbyodata.jp/ontology/NANDO_2201014 NANDO:2201014 小児慢性特定疾病 Specific pediatric chronic disease 多発性軟骨性外骨腫症 Multiple cartilaginous exostosis MONDO:0005508 closeMatch http://glycosmos.org/glycogene/2132 2132 EXT2 protein binding | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | acetylglucosaminyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | protein homodimerization activity | metal ion binding | glucuronosyltransferase activity | protein heterodimerization activity | glycosyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0050508 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0016757 18337501,33961781,35137078,36402845,36593275 | 12907669,36593275 | 12907669 | 36593275 | 12907669 | 12907669 | | 12907669 | 12907669 | 12907669 http://nanbyodata.jp/ontology/NANDO_2201015 NANDO:2201015 小児慢性特定疾病 Specific pediatric chronic disease 内軟骨腫症 Enchondromatosis MONDO:0005508 exactMatch http://glycosmos.org/glycogene/2161 2161 F12 calcium ion binding | protein binding | serine-type endopeptidase activity | misfolded protein binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0051787 | 12011093,21304106,32814053,35817195,8710908 | 18725990,6793628 | 18725990 http://nanbyodata.jp/ontology/NANDO_2200680 NANDO:2200680 小児慢性特定疾病 Specific pediatric chronic disease 第XII因子欠乏症 Factor XII deficiency MONDO:0009315 exactMatch http://glycosmos.org/glycogene/2200 2200 FBN1 calcium ion binding | hormone activity | heparin binding | protein binding | integrin binding | extracellular matrix constituent conferring elasticity | identical protein binding | protein-containing complex binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005201 15062093,7691719 | 27087445,31230984 | 11461921 | 12429738,15131124,15165854,15790312,17293099,18339631,19349279,19570982,21402694,22355679,24039232,25034023,26601954,32296183 | 12807887,15062093,17158881 | 8120105 | 18448684,24035709,25034023 | 15062093 | 20551380,23979707,25037231,27559042,28327460,28675934,3536967 http://nanbyodata.jp/ontology/NANDO_2200968 NANDO:2200968 小児慢性特定疾病 Specific pediatric chronic disease マルファン症候群 Marfan syndrome MONDO:0007947 exactMatch http://glycosmos.org/glycogene/2201 2201 FBN2 hormone activity | protein binding | extracellular matrix constituent conferring elasticity | calcium ion binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030023 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005201 32329225 | 12429738,15131124,18339631,25034023,26601954 | 8120105 | | 28327460,28675934 http://nanbyodata.jp/ontology/NANDO_2201026 NANDO:2201026 小児慢性特定疾病 Specific pediatric chronic disease ビールズ症候群 Beals syndrome MONDO:0007363 exactMatch http://glycosmos.org/glycogene/2218 2218 FKTN phosphotransferase activity, for other substituted phosphate groups | protein binding http://purl.obolibrary.org/obo/GO_0016780 | http://purl.obolibrary.org/obo/GO_0005515 26923585,27194101,29477842 | 17034757,27601598,28514442,29477842,33961781 http://nanbyodata.jp/ontology/NANDO_2200860 NANDO:2200860 小児慢性特定疾病 Specific pediatric chronic disease 福山型先天性筋ジストロフィー Fukuyama type congenital muscular dystrophy MONDO:0009678 exactMatch http://glycosmos.org/glycogene/2243 2243 FGA protein binding | cell adhesion molecule binding | protein-macromolecule adaptor activity | metal ion binding | signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 10954706,12706644,22582013,26091039,28514442,32296183,32814053,33961781 | 9182580 | | | 10903502 | 10891444,8910396 | 25037231,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2200672 NANDO:2200672 小児慢性特定疾病 Specific pediatric chronic disease 先天性フィブリノーゲン欠乏症 Afibrinogenemia MONDO:0008737 exactMatch http://glycosmos.org/glycogene/2244 2244 FGB cell adhesion molecule binding | protein-folding chaperone binding | signaling receptor binding | extracellular matrix structural constituent | protein binding | structural molecule activity http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005198 9182580 | 19996109 | 10903502 | 25037231,28327460,28344315,28675934 | 12706644,20162731 | 8910396 http://nanbyodata.jp/ontology/NANDO_2200672 NANDO:2200672 小児慢性特定疾病 Specific pediatric chronic disease 先天性フィブリノーゲン欠乏症 Afibrinogenemia MONDO:0008737 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_2200820 NANDO:2200820 小児慢性特定疾病 Specific pediatric chronic disease 中隔視神経形成異常症 Septo-optic dysplasia MONDO:0008428 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_2200976 NANDO:2200976 小児慢性特定疾病 Specific pediatric chronic disease ファイファー症候群 Pfeiffer syndrome MONDO:0007043 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200844 NANDO:2200844 小児慢性特定疾病 Specific pediatric chronic disease アペール症候群 Apert syndrome MONDO:0007041 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200845 NANDO:2200845 小児慢性特定疾病 Specific pediatric chronic disease クルーゾン病 Crouzon disease MONDO:0007405 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200975 NANDO:2200975 小児慢性特定疾病 Specific pediatric chronic disease アントレー・ビクスラー症候群 Antley-Bixler syndrome MONDO:0008803 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200976 NANDO:2200976 小児慢性特定疾病 Specific pediatric chronic disease ファイファー症候群 Pfeiffer syndrome MONDO:0007043 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201009 NANDO:2201009 小児慢性特定疾病 Specific pediatric chronic disease 軟骨無形成症 Achondroplasia MONDO:0007037 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201010 NANDO:2201010 小児慢性特定疾病 Specific pediatric chronic disease 軟骨低形成症 Hypochondroplasia MONDO:0007793 exactMatch http://glycosmos.org/glycogene/2266 2266 FGG structural molecule activity | identical protein binding | signaling receptor binding | protein binding | extracellular matrix structural constituent | cell adhesion molecule binding | metal ion binding http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0046872 8910396 | | 7822297 | 10788510,21546586,26627825 | 25037231,28327460,28344315,28675934 | 7822297 | http://nanbyodata.jp/ontology/NANDO_2200672 NANDO:2200672 小児慢性特定疾病 Specific pediatric chronic disease 先天性フィブリノーゲン欠乏症 Afibrinogenemia MONDO:0008737 exactMatch http://glycosmos.org/glycogene/2317 2317 FLNB actin filament binding | RNA binding | actin binding | identical protein binding | cadherin binding | protein binding http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | 22681889 | 8327473 | 12393796 | 25468996 | 10644691,10676904,12393796,12577067,16076904,17474147,19270716 http://nanbyodata.jp/ontology/NANDO_2201019 NANDO:2201019 小児慢性特定疾病 Specific pediatric chronic disease ラーセン症候群 Larsen syndrome MONDO:0007875 exactMatch http://glycosmos.org/glycogene/2670 2670 GFAP identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005178 25416956,25910212,32296183 | | 16189514,17500595,25416956,25910212,26871637,27229929,29892012,31515488,32296183,32814053,33961781,34819669 | | http://nanbyodata.jp/ontology/NANDO_2200835 NANDO:2200835 小児慢性特定疾病 Specific pediatric chronic disease アレキサンダー病 Alexander disease MONDO:0008752 exactMatch http://glycosmos.org/glycogene/2811 2811 GP1BA protein binding | thrombin-activated receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015057 12183630,12855810,15039442,18674540,18789323,19828450,25666618,7721887 | 12855810 http://nanbyodata.jp/ontology/NANDO_2200656 NANDO:2200656 小児慢性特定疾病 Specific pediatric chronic disease ベルナール・スーリエ症候群 Bernard-Soulier syndrome MONDO:0009276 exactMatch http://glycosmos.org/glycogene/2812 2812 GP1BB identical protein binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 18674540 | 3353370 | 11943773,18674540,18789323,4044584 http://nanbyodata.jp/ontology/NANDO_2200656 NANDO:2200656 小児慢性特定疾病 Specific pediatric chronic disease ベルナール・スーリエ症候群 Bernard-Soulier syndrome MONDO:0009276 exactMatch http://glycosmos.org/glycogene/2815 2815 GP9 protein binding http://purl.obolibrary.org/obo/GO_0005515 1730602,25416956,31515488 http://nanbyodata.jp/ontology/NANDO_2200656 NANDO:2200656 小児慢性特定疾病 Specific pediatric chronic disease ベルナール・スーリエ症候群 Bernard-Soulier syndrome MONDO:0009276 exactMatch http://glycosmos.org/glycogene/2817 2817 GPC1 fibroblast growth factor binding | copper ion binding | laminin binding | protein binding http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0005515 | 12732622 | | 30282023 http://nanbyodata.jp/ontology/NANDO_2200930 NANDO:2200930 小児慢性特定疾病 Specific pediatric chronic disease 胆道閉鎖症 biliary atresia MONDO:0008867 exactMatch http://glycosmos.org/glycogene/4261 4261 CIITA AMP-activated protein kinase activity | protein-containing complex binding | histone H3S28 kinase activity | histone H2AXS139 kinase activity | protein serine kinase activity | histone H3S10 kinase activity | ATP binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS1 kinase activity | protein binding | 3-phosphoinositide-dependent protein kinase activity | DNA-dependent protein kinase activity | histone H2AS121 kinase activity | Rho-dependent protein serine/threonine kinase activity | DNA-binding transcription factor binding | histone H2BS14 kinase activity | histone H3T45 kinase activity | histone H2AT120 kinase activity | histone H2BS36 kinase activity | transcription coactivator activity | histone H3T3 kinase activity | DNA binding | ribosomal protein S6 kinase activity | histone H3T11 kinase activity | histone H4S1 kinase activity | transcription cis-regulatory region binding | histone H3S57 kinase activity | acyltransferase activity | histone H3T6 kinase activity | GTP binding http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005525 | 17493635 | | | | | | | | 10938133,16600381,17493635,21890893,23007646 | | | | | 9171108 | | | | | 7749984 | | 15771576 | | | | 19041327 | | | | http://nanbyodata.jp/ontology/NANDO_2200702 NANDO:2200702 小児慢性特定疾病 Specific pediatric chronic disease MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 exactMatch http://glycosmos.org/glycogene/4352 4352 MPL thrombopoietin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0038164 | http://purl.obolibrary.org/obo/GO_0005515 25538044 | 24931576 http://nanbyodata.jp/ontology/NANDO_2200655 NANDO:2200655 小児慢性特定疾病 Specific pediatric chronic disease 本態性血小板血症 Essential thrombocythemia MONDO:0005029 exactMatch http://glycosmos.org/glycogene/4353 4353 MPO heparin binding | peroxidase activity | heme binding | protein binding | metal ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003682 11907569 | 10772654,11907569,24035742 | | 24355864,32814053,36417879 | | 2829220 http://nanbyodata.jp/ontology/NANDO_2200758 NANDO:2200758 小児慢性特定疾病 Specific pediatric chronic disease ミエロペルオキシダーゼ欠損症 Myeloperoxidase deficiency MONDO:0009694 exactMatch http://glycosmos.org/glycogene/4683 4683 NBN protein serine/threonine kinase activator activity | DNA-binding transcription factor binding | phosphorylation-dependent protein binding | protein binding | chromatin-protein adaptor activity | histone binding | damaged DNA binding http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140463 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003684 16622404 | 11486038 | 18411307,18582474,18583988,18678890,19804756,24534091,27814491,30787182 | 12419185,12470659,12607005,15916964,16377563,17500065,17612497,18001824,18001825,18583988,18678890,19609304,19683501,19759395,19804756,20224574,21108945,22078559,22157895,22565321,24534091,24651726,24981860,25064736,25558984,25895060,26869104,27568553,29656893,9590181 | 18411307,18583988,19804756,24534091,27814491,27889449,28216226,30787182,38961290 | 19338747 | 9590180 http://nanbyodata.jp/ontology/NANDO_2200706 NANDO:2200706 小児慢性特定疾病 Specific pediatric chronic disease ナイミーヘン染色体不安定症候群 Nijmegen breakage syndrome MONDO:0009623 exactMatch http://glycosmos.org/glycogene/4811 4811 NID1 extracellular matrix structural constituent | Wnt receptor activity | laminin binding | Wnt-protein binding | proteoglycan binding | laminin-1 binding | calcium ion binding | collagen binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0042813 | http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0017147 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0043237 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005518 20551380,25037231,27068509,27559042,28675934 | | 22952693 | | 22952693 | | | 22952693 http://nanbyodata.jp/ontology/NANDO_2200821 NANDO:2200821 小児慢性特定疾病 Specific pediatric chronic disease ダンディー・ウォーカー症候群 Dandy-Walker syndrome MONDO:0009072 exactMatch http://glycosmos.org/glycogene/4893 4893 NRAS GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | http://nanbyodata.jp/ontology/NANDO_2200827 NANDO:2200827 小児慢性特定疾病 Specific pediatric chronic disease 神経皮膚黒色症 Neurocutaneous melanosis MONDO:0009578 exactMatch http://glycosmos.org/glycogene/4914 4914 NTRK1 nerve growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | nerve growth factor binding | boss receptor activity | protein homodimerization activity | vascular endothelial growth factor receptor activity | identical protein binding | protein tyrosine kinase activity | transmembrane-ephrin receptor activity | ATP binding | neurotrophin p75 receptor binding | kinase binding | neurotrophin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor beta-receptor activity | insulin receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | protein binding | neurotrophin binding | epidermal growth factor receptor activity | macrophage colony-stimulating factor receptor activity http://purl.obolibrary.org/obo/GO_0010465 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0048406 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005166 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005030 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043121 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005011 1281417,15488758 | 1281417,15488758,27655914 | | | 1281417,15488758,17196528 | | 1281417,17196528 | | 21187090,28197073 | 2927393 | | | | | | | | | | | | | | | 10490030,12237455,14985763,15488758,17389358,21102451,21364532,21570973,22939624,26446845,27445338,28197073,35384245,8226808,8384556 | | | http://nanbyodata.jp/ontology/NANDO_2200854 NANDO:2200854 小児慢性特定疾病 Specific pediatric chronic disease 先天性無痛無汗症 Congenital insensitivity to pain with anhidrosis MONDO:0009746 exactMatch http://glycosmos.org/glycogene/23129 23129 PLXND1 semaphorin receptor activity | protein domain specific binding | protein binding http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | 24841563 | 17318185,24139859,24841563,32296183 http://nanbyodata.jp/ontology/NANDO_2200980 NANDO:2200980 小児慢性特定疾病 Specific pediatric chronic disease メビウス症候群 Moebius syndrome MONDO:0008006 exactMatch http://glycosmos.org/glycogene/9723 9723 SEMA3E receptor ligand activity | chemorepellent activity | semaphorin receptor binding | protein binding | neuropilin binding http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038191 25985275 | | 25985275 | 17318185 | http://nanbyodata.jp/ontology/NANDO_2200972 NANDO:2200972 小児慢性特定疾病 Specific pediatric chronic disease チャージ症候群 CHARGE syndrome MONDO:0008965 exactMatch http://glycosmos.org/glycogene/9037 9037 SEMA5A heparan sulfate proteoglycan binding | chemorepellent activity | semaphorin receptor binding | chondroitin sulfate proteoglycan binding | syndecan binding http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0035373 | http://purl.obolibrary.org/obo/GO_0045545 | | | | http://nanbyodata.jp/ontology/NANDO_2200961 NANDO:2200961 小児慢性特定疾病 Specific pediatric chronic disease 5p-症候群 5p- syndrome MONDO:0007404 exactMatch http://glycosmos.org/glycogene/7010 7010 TEK stem cell factor receptor activity | signaling receptor activity | insulin-like growth factor receptor activity | brain-derived neurotrophic factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | growth factor binding | insulin receptor activity | vascular endothelial growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity | protein kinase activity | ATP binding | transmembrane-ephrin receptor activity | fibroblast growth factor receptor activity | hepatocyte growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | protein binding | boss receptor activity | placental growth factor receptor activity | epidermal growth factor receptor activity | identical protein binding | GPI-linked ephrin receptor activity http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005004 | 10766762 | | | 11513602 | | | | | | | 8382358 | | | | | | 15893672,15985432,16732286,19167335,19451274,19922791,20708158,28620713,29106382,8980223 | | | | 19424712 | http://nanbyodata.jp/ontology/NANDO_2201027 NANDO:2201027 小児慢性特定疾病 Specific pediatric chronic disease 青色ゴムまり様母斑症候群 Blue rubber bleb nevus syndrome MONDO:0007203 exactMatch http://glycosmos.org/glycogene/7040 7040 TGFB1 type II transforming growth factor beta receptor binding | transforming growth factor beta receptor binding | enzyme binding | type III transforming growth factor beta receptor binding | protein-containing complex binding | cytokine activity | protein binding | protein serine/threonine kinase activator activity | growth factor activity | type I transforming growth factor beta receptor binding | identical protein binding | deubiquitinase activator activity http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005160 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0034714 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035800 11157754,1333888,8167376 | | 19366691 | 10092230,8167376 | | 24263861,26572508,32644293 | 10092230,10746731,10885742,10930463,11157754,1326540,15247411,15864306,17827158,18672106,19651619,2022183,20505824,20599762,20856203,20860622,21054789,2119582,21441952,21677751,25241761,25416956,25548275,27339457,28514442,29909984,32296183,33961781,35443807,7852346,8370410,8617200 | 32644293 | 31368162 | 10885742,8167376 | 21677751 | 32644293 http://nanbyodata.jp/ontology/NANDO_2200970 NANDO:2200970 小児慢性特定疾病 Specific pediatric chronic disease カムラティ・エンゲルマン症候群 Camurati-Engelmann disease MONDO:0007542 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200655 NANDO:2200655 小児慢性特定疾病 Specific pediatric chronic disease 本態性血小板血症 Essential thrombocythemia MONDO:0005029 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_2200826 NANDO:2200826 小児慢性特定疾病 Specific pediatric chronic disease 結節性硬化症 Tuberous sclerosis complex MONDO:0001734 exactMatch http://glycosmos.org/glycogene/7337 7337 UBE3A transcription coactivator activity | protein binding | zinc ion binding | metal ion binding | ubiquitin protein ligase activity | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0004842 | 12207887,12620801,15890204,16493710,16772533,17023019,17166906,21653829,22483108,22810586,22898364,23393263,24722188,24728990,25416956,25910212,26789255,29426014,31515488,31988313,32296183,32814053,33961781,7624774,9467941 | | | 30020076,7708685 | 12890688,24105792 http://nanbyodata.jp/ontology/NANDO_2200960 NANDO:2200960 小児慢性特定疾病 Specific pediatric chronic disease アンジェルマン症候群 Angelman syndrome MONDO:0007113 exactMatch http://glycosmos.org/glycogene/80025 80025 PANK2 protein binding | pantothenate kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004594 | http://purl.obolibrary.org/obo/GO_0005524 15161933,32814053,35271311 | 15659606,16272150,17242360,22221393 | http://nanbyodata.jp/ontology/NANDO_2200886 NANDO:2200886 小児慢性特定疾病 Specific pediatric chronic disease パントテン酸キナーゼ関連神経変性症 Pantothenate kinase-associated neurodegeneration MONDO:0009319 exactMatch http://glycosmos.org/glycogene/57190 57190 SELENON calcium ion binding | oxidoreductase activity | protein binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | | 17474147,18713863,33961781 http://nanbyodata.jp/ontology/NANDO_2200868 NANDO:2200868 小児慢性特定疾病 Specific pediatric chronic disease 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/55644 55644 OSGEP metal ion binding | N(6)-L-threonylcarbamoyladenine synthase activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061711 | http://purl.obolibrary.org/obo/GO_0005515 | 28805828 | 23414517,23455922,27903914,28514442,32296183,32707033,33961781 http://nanbyodata.jp/ontology/NANDO_2201385 NANDO:2201385 小児慢性特定疾病 Specific pediatric chronic disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_2200972 NANDO:2200972 小児慢性特定疾病 Specific pediatric chronic disease チャージ症候群 CHARGE syndrome MONDO:0008965 exactMatch http://glycosmos.org/glycogene/79631 79631 EFL1 translation elongation factor activity | protein binding | ribosome binding | GTP binding | GTPase activity http://purl.obolibrary.org/obo/GO_0003746 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0003924 | 30545121,39251607 | 21536732 | | 21536732 http://nanbyodata.jp/ontology/NANDO_2200756 NANDO:2200756 小児慢性特定疾病 Specific pediatric chronic disease シュワッハマン・ダイアモンド症候群 Shwachman-Diamond syndrome MONDO:0009833 exactMatch http://glycosmos.org/glycogene/9993 9993 DGCR2 carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | 33961781,34819669 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0008644 closeMatch http://glycosmos.org/glycogene/57122 57122 NUP107 protein binding | structural constituent of nuclear pore http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017056 11564755,15146057,17363900,24407287,26411495,26496610,27194810,30179222,33961781,35271311 | 11684705,15229283 http://nanbyodata.jp/ontology/NANDO_2201385 NANDO:2201385 小児慢性特定疾病 Specific pediatric chronic disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/204 204 AK2 adenylate kinase activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0004017 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 6182143 | | 32814053 http://nanbyodata.jp/ontology/NANDO_2200695 NANDO:2200695 小児慢性特定疾病 Specific pediatric chronic disease 細網異形成症 Reticular dysgenesis MONDO:0009973 exactMatch http://glycosmos.org/glycogene/9200 9200 HACD1 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity | 3-hydroxyacyl-CoA dehydratase activity | hydroxyapatite binding | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0102158 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0046848 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 18554506 | 18554506 | 22067203 | 18554506 | 32296183,38422897 http://nanbyodata.jp/ontology/NANDO_2200868 NANDO:2200868 小児慢性特定疾病 Specific pediatric chronic disease 先天性筋線維不均等症 Congenital fiber-type disproportion myopathy MONDO:0009711 exactMatch http://glycosmos.org/glycogene/641 641 BLM telomeric D-loop binding | Y-form DNA binding | forked DNA-dependent helicase activity | cohesin loader activity | ATP binding | double-stranded DNA helicase activity | DNA binding | ATP-dependent H2AZ histone chaperone activity | DNA helicase activity | isomerase activity | four-way junction helicase activity | zinc ion binding | protein binding | G-quadruplex DNA binding | p53 binding | helicase activity | ATP hydrolysis activity | four-way junction DNA binding | telomeric G-quadruplex DNA binding | single-stranded 3'-5' DNA helicase activity | protein homodimerization activity | bubble DNA binding | identical protein binding | ATP-dependent H3-H4 histone complex chaperone activity | DNA/DNA annealing activity | chromatin extrusion motor activity | 3'-5' DNA helicase activity | single-stranded DNA binding | DNA clamp loader activity | ATP-dependent activity, acting on DNA | 8-hydroxy-2'-deoxyguanosine DNA binding http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0000403 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051880 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0061849 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_1905773 19734539 | 11735402 | 11735402,25901030 | | 24816114,25901030 | | 24816114 | | 12181313,12818200,17878217,19734539,21325134,24816114,25901030,9388193 | | 11433031,11735402,12818200,25901030 | 24816114,25901030 | 10728666,10825162,11309417,11919194,12181313,12975363,14688284,15229185,15775963,15965237,16030011,16864798,17961633,20360068,20711169,20826342,21240188,21325134,23509288,23708797,24126761,26496610,28506294,35271311 | 11433031,11735402 | 11781842 | 10871376 | | 11735402,20639533,25901030 | 19734539 | | 28228481 | 11433031,11735402 | 10359700 | | 17878217 | | 9388193 | 12818200,20639533 | | 10359700,24816114,25901030 | 19734539 http://nanbyodata.jp/ontology/NANDO_2200707 NANDO:2200707 小児慢性特定疾病 Specific pediatric chronic disease ブルーム症候群 Bloom syndrome MONDO:0008876 exactMatch http://glycosmos.org/glycogene/710 710 SERPING1 serine-type endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005515 11527969 | 10570951,10946292,16237761,22046132,22483117,25359215,25910212,28484054,28742139,33961781 http://nanbyodata.jp/ontology/NANDO_2200795 NANDO:2200795 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性血管性浮腫 Hereditary angioedema MONDO:0007361 closeMatch http://glycosmos.org/glycogene/7468 7468 NSD2 histone H3K36 methyltransferase activity | histone H3 methyltransferase activity | chromatin binding | sequence-specific DNA binding | protein binding | histone H3K36 trimethyltransferase activity | histone H3K36 dimethyltransferase activity | metal ion binding | zinc ion binding | histone H4K20 methyltransferase activity http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140955 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042799 24595546,33941880 | | | | 19481544,21293379,32296183 | | | | | http://nanbyodata.jp/ontology/NANDO_2200962 NANDO:2200962 小児慢性特定疾病 Specific pediatric chronic disease 4p-症候群 4p- Syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/7469 7469 NELFA chromatin binding | protein binding | molecular adaptor activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0060090 | 12612062,20211142,24981860,25416956,26496610,28298427,28514442,32296183,33961781 | 30135580 http://nanbyodata.jp/ontology/NANDO_2200962 NANDO:2200962 小児慢性特定疾病 Specific pediatric chronic disease 4p-症候群 4p- Syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/779 779 CACNA1S protein binding | molecular function activator activity | high voltage-gated calcium channel activity | metal ion binding | voltage-gated calcium channel activity | small molecule binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005516 12080061,22153077,25416956,32296183 | 18761102,21525002 | 9852570 | | 28012042,9852570 | 18761102,21525002 | http://nanbyodata.jp/ontology/NANDO_2201515 NANDO:2201515 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/811 811 CALR RNA binding | nuclear androgen receptor binding | protein-folding chaperone binding | zinc ion binding | protein binding | peptide binding | carbohydrate binding | nuclear export signal receptor activity | molecular sequestering activity | protein folding chaperone | ubiquitin protein ligase binding | calcium ion binding | complement component C1q complex binding | unfolded protein binding | integrin binding | DNA binding | iron ion binding | mRNA binding | hormone binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005049 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0044183 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0042562 22658674 | 8107809 | 15474971 | 15474971 | 10605026,15056662,15896298,17055437,17215244,17916189,18177377,19154346,20562859,21900206,25241761,25277244,26514267,28298427,30108113,32296183,32814053,36417879,9640257 | | 15474971 | 11149926 | 35948544 | 15474971,17563366 | 8666824 | 11149926,21590275,21705382,7841019 | 15474971,9922153 | 15474971 | 1911778 | 11149926 | | 14726956 | http://nanbyodata.jp/ontology/NANDO_2200655 NANDO:2200655 小児慢性特定疾病 Specific pediatric chronic disease 本態性血小板血症 Essential thrombocythemia MONDO:0005029 exactMatch http://glycosmos.org/glycogene/846 846 CASR integrin binding | protein kinase binding | G protein-coupled receptor activity | calcium ion binding | identical protein binding | protein homodimerization activity | phosphatidylinositol phospholipase C activity | protein binding | amino acid binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0044325 | | 27434672 | 27434672 | 34194040 | 16740594,27434672 | 7874174 | 20361938 | 27434672 | http://nanbyodata.jp/ontology/NANDO_2200942 NANDO:2200942 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200880 NANDO:2200880 小児慢性特定疾病 Specific pediatric chronic disease ウンフェルリヒト・ルントボルク病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/144165 144165 PRICKLE1 protein-containing complex binding | protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | 14645515,16417580,16442230,17030191,18922795,18976727,25416956,25910212,32296183 | http://nanbyodata.jp/ontology/NANDO_2200880 NANDO:2200880 小児慢性特定疾病 Specific pediatric chronic disease ウンフェルリヒト・ルントボルク病 Unverricht-Lundborg disease MONDO:0009698 exactMatch http://glycosmos.org/glycogene/55746 55746 NUP133 structural constituent of nuclear pore | protein binding http://purl.obolibrary.org/obo/GO_0017056 | http://purl.obolibrary.org/obo/GO_0005515 11684705 | 11564755,15146057,17363900,24315095,24725412,24947832,26411495,26496610,27194810,30179222,31046837,33961781,34819669,35271311 http://nanbyodata.jp/ontology/NANDO_2201385 NANDO:2201385 小児慢性特定疾病 Specific pediatric chronic disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/378884 378884 NHLRC1 zinc ion binding | protein binding | ubiquitin protein ligase activity | translation repressor activity | metal ion binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004842 | 15930137,17908927,21505799,22578008,22961547,33961781 | | | | 15930137,18070875 http://nanbyodata.jp/ontology/NANDO_2200881 NANDO:2200881 小児慢性特定疾病 Specific pediatric chronic disease ラフォラ病 Lafora disease MONDO:0009697 exactMatch http://glycosmos.org/glycogene/53834 53834 FGFRL1 fibroblast growth factor receptor activity | identical protein binding | heparin binding | fibroblast growth factor binding http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0017134 12813049 | 18061161 | 12813049,18061161 | http://nanbyodata.jp/ontology/NANDO_2200962 NANDO:2200962 小児慢性特定疾病 Specific pediatric chronic disease 4p-症候群 4p- Syndrome MONDO:0008684 exactMatch http://glycosmos.org/glycogene/3070 3070 HELLS chromatin binding | helicase activity | ATP binding | protein binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016787 | | | 22157815,32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_2200708 NANDO:2200708 小児慢性特定疾病 Specific pediatric chronic disease ICF症候群 ICF syndrome MONDO:0000133 exactMatch http://glycosmos.org/glycogene/3239 3239 HOXD13 RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | chromatin binding | sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0003700 | 24789103 | 26581570 | | | 28473536 | http://nanbyodata.jp/ontology/NANDO_2200983 NANDO:2200983 小児慢性特定疾病 Specific pediatric chronic disease VATER症候群 VATER syndrome MONDO:0008642 exactMatch http://glycosmos.org/glycogene/3265 3265 HRAS GTPase activity | GTP binding | protein binding | protein-membrane adaptor activity | GDP binding | G protein activity http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0003925 9178006,9230043 | 14500341,17260967,9230043 | 10369681,10608844,11022048,11335720,11598133,11857081,11980706,12620389,12628188,14500341,14724641,15507210,15886098,16316996,16698549,16810318,17084389,17540175,18073111,18273062,18454158,18596699,19063885,19141281,19222999,19696784,20080631,20133692,20133694,20178605,20936779,2122974,22020336,22169110,24441586,24929361,25241761,25684575,26165597,26635368,28514442,30194290,30518913,32296183,32814053,33961781,34591612,34591642,8332187,8670882,9144171,9219684,9447984,9488663,9690470 | | 8142349,9230043 | http://nanbyodata.jp/ontology/NANDO_2200971 NANDO:2200971 小児慢性特定疾病 Specific pediatric chronic disease コステロ症候群 Costello syndrome MONDO:0009026 exactMatch http://glycosmos.org/glycogene/472 472 ATM identical protein binding | histone H2BS36 kinase activity | protein-containing complex binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | histone H2AS121 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | histone H4S1 kinase activity | histone H3T6 kinase activity | histone H3S28 kinase activity | histone H3T11 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S57 kinase activity | protein serine/threonine kinase activity | DNA-dependent protein kinase activity | histone H2AXS139 kinase activity | histone H2BS14 kinase activity | histone H3T3 kinase activity | DNA binding | ATP binding | AMP-activated protein kinase activity | histone H3T45 kinase activity | protein serine kinase activity | 1-phosphatidylinositol-3-kinase activity | protein binding | Rho-dependent protein serine/threonine kinase activity | ribosomal protein S6 kinase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004711 15790808 | | 15790808 | | | | | | | | | | | | 10766245,10802669,10973490,11375976,20096447,21757780,24534091,26240375,26323318,26344566,26774286,30612738,30886146,30952868,38128537,9733515 | 15790808 | | | | | | | | | 11375976 | 11375976,12607005,15314656,16452482,17157788,17525732,18160036,18449195,18583959,18667510,18710941,19015526,19412162,20801936,20810650,20864032,22621922,22977523,25640309,25895060,29656893,30886146,30944854,32296183,9168117,9733515 | | http://nanbyodata.jp/ontology/NANDO_2200705 NANDO:2200705 小児慢性特定疾病 Specific pediatric chronic disease 毛細血管拡張性運動失調症 Ataxia telangiectasia MONDO:0008840 exactMatch http://glycosmos.org/glycogene/5015 5015 OTX2 protein binding | eukaryotic initiation factor 4E binding | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008190 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 20530484,32296183,32814053 | 15705863 | 28473536 | 12559959 | 12559959,20530484 | http://nanbyodata.jp/ontology/NANDO_2200820 NANDO:2200820 小児慢性特定疾病 Specific pediatric chronic disease 中隔視神経形成異常症 Septo-optic dysplasia MONDO:0008428 exactMatch http://glycosmos.org/glycogene/5376 5376 PMP22 protein binding http://purl.obolibrary.org/obo/GO_0005515 12107182,14709540,25416956,25910212,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2200905 NANDO:2200905 小児慢性特定疾病 Specific pediatric chronic disease 慢性炎症性脱髄性多発神経炎 Chronic inflammatory demyelinating polyneuropathy MONDO:0007691 closeMatch http://glycosmos.org/glycogene/5644 5644 PRSS1 metal ion binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004252 | 8841182 http://nanbyodata.jp/ontology/NANDO_2200942 NANDO:2200942 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/5645 5645 PRSS2 serine-type endopeptidase activity | protein binding | calcium ion binding | serine-type peptidase activity | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0004222 12709065,12731883 | 16192646 | 12709065 | | http://nanbyodata.jp/ontology/NANDO_2200942 NANDO:2200942 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性膵炎 Hereditary pancreatitis MONDO:0008185 exactMatch http://glycosmos.org/glycogene/5651 5651 TMPRSS15 serine-type endopeptidase activity | protein binding http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 | 24407287 http://nanbyodata.jp/ontology/NANDO_2200910 NANDO:2200910 小児慢性特定疾病 Specific pediatric chronic disease エンテロキナーゼ欠損症 Enterokinase deficiency MONDO:0009173 exactMatch http://glycosmos.org/glycogene/5727 5727 PTCH1 smoothened binding | protein binding | heparin binding | patched binding | hedgehog family protein binding | protein-containing complex binding | cholesterol binding | cyclin binding | hedgehog receptor activity http://purl.obolibrary.org/obo/GO_0005119 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005113 | http://purl.obolibrary.org/obo/GO_0097108 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0030332 | http://purl.obolibrary.org/obo/GO_0008158 11278759,9811851 | 19502428,19561609,21802063,25283809,29954986,29995851,30139912,32296183,32814053 | | | 9811851 | | 21931618 | 11331587 | http://nanbyodata.jp/ontology/NANDO_2200828 NANDO:2200828 小児慢性特定疾病 Specific pediatric chronic disease ゴーリン症候群 Gorlin syndrome MONDO:0007187 exactMatch http://glycosmos.org/glycogene/5745 5745 PTH1R protein homodimerization activity | G protein-coupled peptide receptor activity | protein binding | peptide hormone binding | parathyroid hormone receptor activity http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0008528 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004991 27160269 | | 19674967,23124878,32296183 | 19674967 | 19674967,8397094 http://nanbyodata.jp/ontology/NANDO_2201015 NANDO:2201015 小児慢性特定疾病 Specific pediatric chronic disease 内軟骨腫症 Enchondromatosis MONDO:0008145 exactMatch http://glycosmos.org/glycogene/5980 5980 REV3L 4 iron, 4 sulfur cluster binding | protein binding | DNA-directed DNA polymerase activity | metal ion binding | zinc ion binding | DNA binding | nucleotide binding http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003887 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000166 | 22828282 | | | | | http://nanbyodata.jp/ontology/NANDO_2200980 NANDO:2200980 小児慢性特定疾病 Specific pediatric chronic disease メビウス症候群 Moebius syndrome MONDO:0008006 exactMatch http://glycosmos.org/glycogene/5993 5993 RFX5 protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 10938133,16464847,20211142,20732328,25752541,26496610,28514442,33961781 | 9806546 | | 28473536 | 10586057,9806546 | | 23332764 http://nanbyodata.jp/ontology/NANDO_2200702 NANDO:2200702 小児慢性特定疾病 Specific pediatric chronic disease MHCクラスII欠損症 MHC class II deficiency MONDO:0008855 exactMatch http://glycosmos.org/glycogene/6261 6261 RYR1 voltage-gated calcium channel activity | calcium-induced calcium release activity | calcium ion binding | ryanodine-sensitive calcium-release channel activity | calmodulin binding | ATP binding | calcium channel activity | calcium-release channel activity http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005219 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0015278 | 26115329 | | 10026226,11741831,16163667,19095005,22480578,26115329 | | | | 9030597 http://nanbyodata.jp/ontology/NANDO_2200870 NANDO:2200870 小児慢性特定疾病 Specific pediatric chronic disease セントラルコア病 Central core disease MONDO:0007294 exactMatch http://glycosmos.org/glycogene/6261 6261 RYR1 voltage-gated calcium channel activity | calcium-induced calcium release activity | calcium ion binding | ryanodine-sensitive calcium-release channel activity | calmodulin binding | ATP binding | calcium channel activity | calcium-release channel activity http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005219 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0015278 | 26115329 | | 10026226,11741831,16163667,19095005,22480578,26115329 | | | | 9030597 http://nanbyodata.jp/ontology/NANDO_2200872 NANDO:2200872 小児慢性特定疾病 Specific pediatric chronic disease ミニコア病 Minicore myopathy MONDO:0009712 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_2201514 NANDO:2201514 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性高カリウム性周期性四肢麻痺 Hereditary hyperkalemic periodic paralysis MONDO:0008224 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_2201515 NANDO:2201515 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性低カリウム性周期性四肢麻痺 Hereditary hypokalemic periodic paralysis MONDO:0008223 exactMatch http://glycosmos.org/glycogene/6476 6476 SI carbohydrate binding | alpha-1,4-glucosidase activity | protein binding | oligo-1,6-glucosidase activity | sucrose alpha-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004558 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004574 | http://purl.obolibrary.org/obo/GO_0004575 | | 36968271 | 27480812 | http://nanbyodata.jp/ontology/NANDO_2200908 NANDO:2200908 小児慢性特定疾病 Specific pediatric chronic disease ショ糖イソ麦芽糖分解酵素欠損症 Congenital sucrase-isomaltase deficiency MONDO:0009114 exactMatch http://glycosmos.org/glycogene/6495 6495 SIX1 sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding | DNA-binding transcription factor activity | transcription coactivator binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 28473536 | | 19497856 | 15141091 | | 19497856 | | 16670092 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 15141091 | 15141091 http://nanbyodata.jp/ontology/NANDO_2201391 NANDO:2201391 小児慢性特定疾病 Specific pediatric chronic disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 exactMatch http://glycosmos.org/glycogene/147912 147912 SIX5 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | | 16713569 | http://nanbyodata.jp/ontology/NANDO_2201391 NANDO:2201391 小児慢性特定疾病 Specific pediatric chronic disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0007029 exactMatch http://glycosmos.org/glycogene/6608 6608 SMO oxysterol binding | G protein-coupled receptor activity | protein kinase A catalytic subunit binding | cAMP-dependent protein kinase inhibitor activity | protein binding | protein sequestering activity | patched binding http://purl.obolibrary.org/obo/GO_0008142 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0005113 | | | 36202993 | 19592253,21659505 | | 9811851 http://nanbyodata.jp/ontology/NANDO_2201401 NANDO:2201401 小児慢性特定疾病 Specific pediatric chronic disease 視床下部過誤腫症候群 Hypothalamic hamartoma syndrome MONDO:0009436 exactMatch http://glycosmos.org/glycogene/6657 6657 SOX2 DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA binding | sequence-specific DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | miRNA binding | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003700 | | 18456656,19736317,23667531,24048479,24525231,25416956,25702638,27334688,29358331,30442713,31515488 | 16153702,18285410,18407919,19427902,7849401 | 20713518 | | 18407919 | 18710938 | 16153702,18027866,7849401 http://nanbyodata.jp/ontology/NANDO_2200820 NANDO:2200820 小児慢性特定疾病 Specific pediatric chronic disease 中隔視神経形成異常症 Septo-optic dysplasia MONDO:0008428 exactMatch http://glycosmos.org/glycogene/64324 64324 NSD1 histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear retinoic acid receptor binding | nuclear retinoid X receptor binding | histone H3K36 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K36 dimethyltransferase activity | nuclear thyroid hormone receptor binding | histone H3 methyltransferase activity | protein binding | transcription coregulator activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0042799 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496 http://nanbyodata.jp/ontology/NANDO_2200959 NANDO:2200959 小児慢性特定疾病 Specific pediatric chronic disease ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome MONDO:0007534 exactMatch http://glycosmos.org/glycogene/8220 8220 ESS2 protein binding http://purl.obolibrary.org/obo/GO_0005515 22365833,28514442,32296183,32814053,33961781,34694367 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0008644 closeMatch http://glycosmos.org/glycogene/54790 54790 TET2 protein binding | methylcytosine dioxygenase activity | DNA binding | zinc ion binding | ferrous iron binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070579 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008198 23222540,23353889,25601757,28514442,29735542,32814053,33961781,34667079 | 21057493,23222540,24315485,32518946 | | 24315485 | 24315485 http://nanbyodata.jp/ontology/NANDO_2200655 NANDO:2200655 小児慢性特定疾病 Specific pediatric chronic disease 本態性血小板血症 Essential thrombocythemia MONDO:0005029 exactMatch http://glycosmos.org/glycogene/8270 8270 LAGE3 protein binding http://purl.obolibrary.org/obo/GO_0005515 25416956,27903914,28514442,31481669,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201385 NANDO:2201385 小児慢性特定疾病 Specific pediatric chronic disease ギャロウェイ・モワト症候群 Galloway-Mowat syndrome MONDO:0009627 exactMatch http://glycosmos.org/glycogene/4000 4000 LMNA structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 3453101,8344919 | 25910212 | 10381623,10514485,10727209,11313760,11587540,11801724,14597414,15140953,15161933,15671068,16247757,19323649,19933576,20000738,20467437,20580717,20618440,21346760,21418524,21949239,21988832,21993218,22399800,22555292,23539603,23658700,23977161,24375709,24981860,25399868,25416956,25910212,26524528,29568061,29997244,30021884,30488537,31467278,31515488,31548606,32296183,32814053,33961781,35271311,35311970,37398436 | 2188730,2344612,24741066,37788673,37832547 | http://nanbyodata.jp/ontology/NANDO_2200833 NANDO:2200833 小児慢性特定疾病 Specific pediatric chronic disease ハッチンソン・ギルフォード症候群 Hutchinson-Gilford syndrome MONDO:0008310 exactMatch http://glycosmos.org/glycogene/8643 8643 PTCH2 hedgehog receptor activity | smoothened binding | hedgehog family protein binding http://purl.obolibrary.org/obo/GO_0008158 | http://purl.obolibrary.org/obo/GO_0005119 | http://purl.obolibrary.org/obo/GO_0097108 11001584 | 9811851 | 11001584,9811851 http://nanbyodata.jp/ontology/NANDO_2200828 NANDO:2200828 小児慢性特定疾病 Specific pediatric chronic disease ゴーリン症候群 Gorlin syndrome MONDO:0007187 exactMatch http://glycosmos.org/glycogene/26154 26154 ABCA12 lipid transporter activity | ATPase-coupled intramembrane lipid transporter activity | apolipoprotein A-I receptor binding | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ABC-type transporter activity | ATP binding | protein binding | signaling receptor binding | ATPase-coupled lipid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0034040 16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253 http://nanbyodata.jp/ontology/NANDO_2200992 NANDO:2200992 小児慢性特定疾病 Specific pediatric chronic disease 道化師様魚鱗癬 Harlequin ichthyosis MONDO:0009443 exactMatch http://glycosmos.org/glycogene/7957 7957 EPM2A histone H2AXY142 phosphatase activity | RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity | carbohydrate phosphatase activity | starch binding | protein serine/threonine phosphatase activity | protein tyrosine phosphatase activity | glycogen binding | glycogen (starch) synthase activity | carbohydrate binding | RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity | protein tyrosine phosphatase activity, metal-dependent | phosphatase activity | calmodulin-dependent protein phosphatase activity | protein homodimerization activity | protein binding | RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity | RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity | MAP kinase serine/threonine phosphatase activity | histone H2AXS140 phosphatase activity | myosin phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | protein dimerization activity | RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0180006 | http://purl.obolibrary.org/obo/GO_0019203 | http://purl.obolibrary.org/obo/GO_2001070 | http://purl.obolibrary.org/obo/GO_0004722 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_2001069 | http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0180007 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0033192 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0180008 | http://purl.obolibrary.org/obo/GO_0180004 | http://purl.obolibrary.org/obo/GO_1990439 | http://purl.obolibrary.org/obo/GO_0140791 | http://purl.obolibrary.org/obo/GO_0017018 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0180005 | | 16901901,25538239 | | 12915448 | 11001928,11739371,12915448 | 11739371,18617530,25544560 | | 25538239 | | | 18617530 | | 18617530,25538239,25544560 | 12915448,14532330,15930137,18070875,18617530,21505799,22961547,24837458,25538239,25544560,32814053,33961781 | | | | | | | 18617530 | http://nanbyodata.jp/ontology/NANDO_2200881 NANDO:2200881 小児慢性特定疾病 Specific pediatric chronic disease ラフォラ病 Lafora disease MONDO:0009697 exactMatch http://glycosmos.org/glycogene/3339 3339 HSPG2 amyloid-beta binding | extracellular matrix structural constituent conferring compression resistance | low-density lipoprotein particle receptor binding | integrin binding | calcium ion binding | protein binding | collagen V binding http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0030021 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070052 21289173 | 20551380,23979707,25037231,27559042,28327460,28675934 | 21289173 | 21126803 | | 11956183,12604605,21596751,23374253 | http://nanbyodata.jp/ontology/NANDO_2200876 NANDO:2200876 小児慢性特定疾病 Specific pediatric chronic disease シュワルツ・ヤンペル症候群 Schwartz-Jampel syndrome MONDO:0009717 exactMatch http://glycosmos.org/glycogene/3417 3417 IDH1 protein homodimerization activity | cadherin binding | NAD binding | isocitrate dehydrogenase (NADP+) activity | identical protein binding | NADP binding | protein binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0004450 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0050661 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 19935646 | 25468996 | | 10521434,19935646,20171178 | 19935646,21516116,26436839 | | 31983428,32814053 | 19935646 http://nanbyodata.jp/ontology/NANDO_2201015 NANDO:2201015 小児慢性特定疾病 Specific pediatric chronic disease 内軟骨腫症 Enchondromatosis MONDO:0008145 exactMatch http://glycosmos.org/glycogene/3418 3418 IDH2 NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450 | | 22416140,23226729 http://nanbyodata.jp/ontology/NANDO_2201015 NANDO:2201015 小児慢性特定疾病 Specific pediatric chronic disease 内軟骨腫症 Enchondromatosis MONDO:0008145 exactMatch http://glycosmos.org/glycogene/3481 3481 IGF2 receptor ligand activity | growth factor activity | protein binding | insulin receptor binding | insulin-like growth factor receptor binding | integrin binding | transmembrane receptor protein tyrosine kinase activator activity | hormone activity | protein serine/threonine kinase activator activity http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0030297 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0043539 | 11500939 | 10611375,17850746,18046459,25416956,31467278,32296183 | 12138094 | 2967174 | 28873464 | 11500939 | | http://nanbyodata.jp/ontology/NANDO_2200959 NANDO:2200959 小児慢性特定疾病 Specific pediatric chronic disease ベックウィズ・ヴィーデマン症候群 Beckwith-Wiedemann syndrome MONDO:0007534 exactMatch http://glycosmos.org/glycogene/501 501 ALDH7A1 protein binding | L-aminoadipate-semialdehyde dehydrogenase activity | identical protein binding | aldehyde dehydrogenase (NAD+) activity | betaine-aldehyde dehydrogenase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004043 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004029 | http://purl.obolibrary.org/obo/GO_0008802 21988832,32296183 | | 20207735,32296183 | 20207735,21338592 | 20207735 http://nanbyodata.jp/ontology/NANDO_2201409 NANDO:2201409 小児慢性特定疾病 Specific pediatric chronic disease ビタミンB6依存性てんかん Vitamine B6-dependent epilepsy MONDO:0009945 exactMatch http://glycosmos.org/glycogene/205717 205717 USF3 DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II transcription regulatory region sequence-specific DNA binding | protein dimerization activity http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046983 33058301 | 33058301 | http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/3561 3561 IL2RG interleukin-15 receptor activity | interleukin-2 binding | coreceptor activity | cytokine binding | cytokine receptor activity | protein binding | interleukin-4 receptor activity | interleukin-2 receptor activity | interleukin-7 receptor activity http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0019976 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004913 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004917 15123770 | | 18829468,7568005,8026467,8128231,8624802 | | | 12504082,25416956,28514442,31515488,32296183,33961781,8266077 | 8266078 | 8266076 | 8266077 http://nanbyodata.jp/ontology/NANDO_2200694 NANDO:2200694 小児慢性特定疾病 Specific pediatric chronic disease X連鎖重症複合免疫不全症 X-linked severe combined immunodeficiency MONDO:0010315 exactMatch http://glycosmos.org/glycogene/3561 3561 IL2RG interleukin-15 receptor activity | interleukin-2 binding | coreceptor activity | cytokine binding | cytokine receptor activity | protein binding | interleukin-4 receptor activity | interleukin-2 receptor activity | interleukin-7 receptor activity http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0019976 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004913 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004917 15123770 | | 18829468,7568005,8026467,8128231,8624802 | | | 12504082,25416956,28514442,31515488,32296183,33961781,8266077 | 8266078 | 8266076 | 8266077 http://nanbyodata.jp/ontology/NANDO_2200697 NANDO:2200697 小児慢性特定疾病 Specific pediatric chronic disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/3575 3575 IL7R interleukin-7 receptor activity | protein binding | antigen binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0004917 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003823 | http://purl.obolibrary.org/obo/GO_0004896 8128231 | 19141282,32296183,8266077 | 9495344 | 11418668,20974963 http://nanbyodata.jp/ontology/NANDO_2200697 NANDO:2200697 小児慢性特定疾病 Specific pediatric chronic disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/10483 10483 SEC23B GTPase activator activity | zinc ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | | 16189514,21516116,25416956,26522472,27551091,31515488,32296183,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10695 10695 CNPY3 signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | 28514442,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/59 59 ACTA2 protein binding | protein kinase binding | ATP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016787 28514442,33961781 | | | http://nanbyodata.jp/ontology/NANDO_2200850 NANDO:2200850 小児慢性特定疾病 Specific pediatric chronic disease もやもや病 Moyamoya disease MONDO:0016820 exactMatch http://glycosmos.org/glycogene/10320 10320 IKZF1 DNA binding | metal ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | DNA-binding transcription factor activity | protein domain specific binding | zinc ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183 http://nanbyodata.jp/ontology/NANDO_2201006 NANDO:2201006 小児慢性特定疾病 Specific pediatric chronic disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/10758 10758 TRAF3IP2 signaling receptor binding | protein binding | ubiquitin protein ligase activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061630 | 12459498,21516116,24120361,25416956 | 19825828 http://nanbyodata.jp/ontology/NANDO_2200764 NANDO:2200764 小児慢性特定疾病 Specific pediatric chronic disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/94 94 ACVRL1 ATP binding | transforming growth factor beta binding | transmembrane receptor protein serine/threonine kinase activity | activin binding | activin receptor activity, type II | transforming growth factor beta receptor activity, type I | activin receptor activity, type I | SMAD binding | transforming growth factor beta receptor activity, type II | protein binding | metal ion binding | transforming growth factor beta receptor activity, type III | protein serine/threonine kinase activity | protein kinase binding | transforming growth factor beta receptor activity | BMP receptor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0098821 12065756 | 8242742 | 8242742 | 8242742 | | 8242742 | 22718755,8242742 | 12065756 | | 11266516,11278302,12393874,14580334,15611116,15702480,16049014,17068149,18974388,21791611,23868260,28514442,28564608,33961781,8242742 | | | 12065756,12393874 | 19592636 | 8242742 | 12065756,26176610,32082362 http://nanbyodata.jp/ontology/NANDO_2201034 NANDO:2201034 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia MONDO:0019180 exactMatch http://glycosmos.org/glycogene/1106 1106 CHD2 RNA binding | protein binding | ATP-dependent H3-H4 histone complex chaperone activity | histone binding | chromatin extrusion motor activity | double-stranded DNA helicase activity | single-stranded 3'-5' DNA helicase activity | ATP hydrolysis activity | cohesin loader activity | ATP binding | forked DNA-dependent helicase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | ATP-dependent H2AZ histone chaperone activity | ATP-dependent chromatin remodeler activity | DNA binding | DNA clamp loader activity | four-way junction helicase activity http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0009378 22658674,22681889 | 21516116,25416956,29153328,32296183 | | | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200879 NANDO:2200879 小児慢性特定疾病 Specific pediatric chronic disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/1301 1301 COL11A1 heparin binding | protein-macromolecule adaptor activity | extracellular matrix binding | extracellular matrix structural constituent conferring tensile strength | metal ion binding | heparan sulfate binding | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1904399 | http://purl.obolibrary.org/obo/GO_0005201 | 10486316 | 3182841 | 28327460,28675934 | | | 10486316 http://nanbyodata.jp/ontology/NANDO_2201016 NANDO:2201016 小児慢性特定疾病 Specific pediatric chronic disease 2型コラーゲン異常症関連疾患 Type II collagenopathy MONDO:0016068 closeMatch http://glycosmos.org/glycogene/1302 1302 COL11A2 protein-macromolecule adaptor activity | protein binding | extracellular matrix structural constituent conferring tensile strength | metal ion binding | heparin binding http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008201 10677296 | 17703188 | 28344315,28675934,7859284,8838804 | | http://nanbyodata.jp/ontology/NANDO_2201016 NANDO:2201016 小児慢性特定疾病 Specific pediatric chronic disease 2型コラーゲン異常症関連疾患 Type II collagenopathy MONDO:0016068 closeMatch http://glycosmos.org/glycogene/1297 1297 COL9A1 protein binding | carbohydrate binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | metal ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046872 15047691,32814053,33961781 | 15047691,17553797 | 8660302 | 25037231,8660302 | http://nanbyodata.jp/ontology/NANDO_2201016 NANDO:2201016 小児慢性特定疾病 Specific pediatric chronic disease 2型コラーゲン異常症関連疾患 Type II collagenopathy MONDO:0015627 closeMatch http://glycosmos.org/glycogene/1298 1298 COL9A2 extracellular matrix structural constituent conferring tensile strength | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 25037231,8660302 | 32296183 | 8660302 http://nanbyodata.jp/ontology/NANDO_2201016 NANDO:2201016 小児慢性特定疾病 Specific pediatric chronic disease 2型コラーゲン異常症関連疾患 Type II collagenopathy MONDO:0015627 closeMatch http://glycosmos.org/glycogene/1299 1299 COL9A3 protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 8660302 | 25037231,8660302 http://nanbyodata.jp/ontology/NANDO_2201016 NANDO:2201016 小児慢性特定疾病 Specific pediatric chronic disease 2型コラーゲン異常症関連疾患 Type II collagenopathy MONDO:0015627 closeMatch http://glycosmos.org/glycogene/1312 1312 COMT O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0008171 | http://purl.obolibrary.org/obo/GO_0016206 | http://purl.obolibrary.org/obo/GO_0008168 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/1356 1356 CP copper ion binding | protein-folding chaperone binding | glutathione peroxidase activity | phospholipid-hydroperoxide glutathione peroxidase activity | oxidoreductase activity, acting on metal ions, oxygen as acceptor | oxidoreductase activity | ferroxidase activity http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0004602 | http://purl.obolibrary.org/obo/GO_0047066 | http://purl.obolibrary.org/obo/GO_0016724 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0004322 | 19996109 | 10481051,10508415 | 10481051,10508415 | 14623105 | | 14623105,16150804,29183916 http://nanbyodata.jp/ontology/NANDO_1201152 NANDO:1201152 指定難病 Designated intractable disease 無セルロプラスミン血症 Aceruloplasminemia MONDO:0011426 exactMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/1387 1387 CREBBP histone H3K18 acetyltransferase activity | histone H2AK9 acetyltransferase activity | histone H4K16 acetyltransferase activity | histone H3K122 acetyltransferase activity | chromatin binding | acetyltransferase activity | protein-containing complex binding | DNA-binding transcription factor binding | histone H3K4 acetyltransferase activity | p53 binding | RNA polymerase II-specific DNA-binding transcription factor binding | histone H3K56 acetyltransferase activity | histone acetyltransferase activity | tau protein binding | transcription corepressor activity | histone H3K14 acetyltransferase activity | histone H4K8 acetyltransferase activity | peptide lactyltransferase activity | histone H3K27 acetyltransferase activity | histone H3K9 acetyltransferase activity | histone H2AK5 acetyltransferase activity | protein binding | chromatin DNA binding | peptide-lysine-N-acetyltransferase activity | peptide N-acetyltransferase activity | zinc ion binding | histone H4K12 acetyltransferase activity | histone H3K36 acetyltransferase activity | MRF binding | histone H4K5 acetyltransferase activity | transcription coactivator activity | histone H2BK12 acetyltransferase activity | transcription coactivator binding | histone H3K23 acetyltransferase activity | damaged DNA binding | histone H2BK5 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0036408 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0120300 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0034212 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0043426 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0044014 21131905 | | | | 24939902 | 11742995,12456660,15273251,16135789,24939902 | | 15509593,15674325 | | 9194565 | 11001584,16043483,21539536 | | 10362258,11742995 | 28386764 | 21539536 | | | 38128537 | 21131905 | | | 10049825,10196247,10347196,10428834,10722728,10722738,10823891,10866662,11568182,11799127,11897665,11940655,12435739,12482968,14645221,14716005,14759370,15075319,15126506,15220471,15273251,16043483,16154084,16291753,16611888,16799563,17075044,17362989,17382325,17500595,17761676,17923090,18250304,18309294,18316612,18836453,19234109,19805293,20541699,20541704,20581830,21483817,21602890,21670263,21751375,21903422,23273993,23434580,23441852,23746807,24207024,24361270,24939902,25314079,25609649,28128295,28680062,28790157,30540930,33640491,33894414,35140242,39009827,8684459,9018065,9194564,9323138,9687513,9811832,9887100 | | 24207024,28386764,28790157,30540930,34239064,35675826 | | | | | 8621548 | | 10362258,11001584,12169688,12435739,12586840,12929931,14645221,8684459 | | 11349124 | | 24939902 | http://nanbyodata.jp/ontology/NANDO_2200955 NANDO:2200955 小児慢性特定疾病 Specific pediatric chronic disease ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome MONDO:0019188 exactMatch http://glycosmos.org/glycogene/10297 10297 APC2 protein binding | beta-catenin binding | microtubule binding | gamma-catenin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0045295 10644998,10646860 | 9823329 | | http://nanbyodata.jp/ontology/NANDO_2200953 NANDO:2200953 小児慢性特定疾病 Specific pediatric chronic disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/1536 1536 CYBB protein heterodimerization activity | NADPH binding | metal ion binding | superoxide-generating NAD(P)H oxidase activity | electron transfer activity | FAD binding | superoxide-generating NADPH oxidase activity | heme binding | voltage-gated proton channel activity | flavin adenine dinucleotide binding | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070402 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016175 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0071949 | http://purl.obolibrary.org/obo/GO_0106292 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030171 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 12042318 | 36413210,38355798 | | 12042318,12716910 | 12042318 | 36413210,38355798 | 15338276,36241643,36413210,38355798 | 9774399 | 11477065,12034764 | 9774399 | 22808130,28351984,32296183,3305576 http://nanbyodata.jp/ontology/NANDO_2200757 NANDO:2200757 小児慢性特定疾病 Specific pediatric chronic disease 慢性肉芽腫症 Chronic granulomatous disease MONDO:0018305 exactMatch http://glycosmos.org/glycogene/220296 220296 HEPACAM "" "" "" http://nanbyodata.jp/ontology/NANDO_2200837 NANDO:2200837 小児慢性特定疾病 Specific pediatric chronic disease 皮質下嚢胞をもつ大頭型白質脳症 Megaloencephalic leukoencephalopathy with subcortical cysts MONDO:0011391 exactMatch http://glycosmos.org/glycogene/165918 165918 RNF168 histone binding | chromatin binding | K63-linked polyubiquitin modification-dependent protein binding | histone H2AK15 ubiquitin ligase activity | ubiquitin binding | zinc ion binding | metal ion binding | protein binding | histone ubiquitin ligase activity | ubiquitin-protein transferase activity | nucleosome binding http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0070530 | http://purl.obolibrary.org/obo/GO_0140858 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140852 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0031491 19203578,19203579,23760478 | 19203578,19203579,19500350 | 19500350,21041483,22742833 | 27153538 | 19203578,19203579 | | | 15231748,19203578,22373579,26503038,32296183,32814053 | 19500350 | 19203578,19203579,22373579,22980979,23760478 | 22742833 http://nanbyodata.jp/ontology/NANDO_2200710 NANDO:2200710 小児慢性特定疾病 Specific pediatric chronic disease RIDDLE症候群 RIDDLE syndrome MONDO:0012764 exactMatch http://glycosmos.org/glycogene/1654 1654 DDX3X signaling adaptor activity | chromatin extrusion motor activity | ATP hydrolysis activity | ATP binding | ribonucleoside triphosphate phosphatase activity | ATP-dependent H3-H4 histone complex chaperone activity | RNA helicase activity | poly(A) binding | gamma-tubulin binding | ribosomal small subunit binding | protein binding | transcription factor binding | CTPase activity | RNA stem-loop binding | GTPase activity | ATP-dependent H2AZ histone chaperone activity | mRNA 5'-UTR binding | cohesin loader activity | translation initiation factor binding | RNA strand annealing activity | protein serine/threonine kinase activator activity | DNA clamp loader activity | eukaryotic initiation factor 4E binding | mRNA binding | DNA helicase activity | DNA binding | cadherin binding | RNA binding http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0017111 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003724 | http://purl.obolibrary.org/obo/GO_0008143 | http://purl.obolibrary.org/obo/GO_0043015 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008134 | http://purl.obolibrary.org/obo/GO_0043273 | http://purl.obolibrary.org/obo/GO_0035613 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0033592 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0008190 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0003723 23478265 | | 10074132,21589879 | | 10074132 | | 21589879,31575075 | 18596238 | 28842590 | 22323517 | 10074132,10329544,10336476,17855521,18596238,18628297,18636090,18846110,18985028,19913487,20127681,20657822,20862261,21730191,21883093,22323517,22616990,22810585,22872150,23413191,23816991,23840900,24169621,24855944,26030138,26100019,27736973,27980081,28128295,28611246,28733330,28842590,29261807,29899501,30131165,30341167,31575075,32814053 | 16818630 | 10074132 | 22872150 | 10074132 | | 22872150 | | 22323517,22872150 | 27546789 | 23413191 | | 17667941 | 29062139 | 21589879 | 21589879 | 25468996 | 21589879,22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2201395 NANDO:2201395 小児慢性特定疾病 Specific pediatric chronic disease DDX3X関連神経発達異常症 DDX3X-related neurodevelopmental disorder MONDO:0010497 exactMatch http://glycosmos.org/glycogene/1717 1717 DHCR7 7-dehydrocholesterol reductase activity | cholesterol-5,6-oxide hydrolase activity | NADP binding | protein binding http://purl.obolibrary.org/obo/GO_0047598 | http://purl.obolibrary.org/obo/GO_0033963 | http://purl.obolibrary.org/obo/GO_0050661 | http://purl.obolibrary.org/obo/GO_0005515 38297129,38297130,9465114 | 20615952 | | 25637936,32694168 http://nanbyodata.jp/ontology/NANDO_2200979 NANDO:2200979 小児慢性特定疾病 Specific pediatric chronic disease スミス・レムリ・オピッツ症候群 Smith-Lemli-Opitz syndrome MONDO:0010035 exactMatch http://glycosmos.org/glycogene/1736 1736 DKC1 box H/ACA snoRNA binding | telomerase RNA binding | protein binding | pseudouridine synthase activity | telomerase activity | RNA binding http://purl.obolibrary.org/obo/GO_0034513 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009982 | http://purl.obolibrary.org/obo/GO_0003720 | http://purl.obolibrary.org/obo/GO_0003723 18082603 | 18082603,20351177,22527283,26950371 | 16601202,16618814,18358808,19179534,19383767,21846770,23685356,24965446,25467444,26496610,28514442,29178645,33961781,35271311 | 25219674 | 12135483,23685356 | 18082603,20351177,22527283,22658674 http://nanbyodata.jp/ontology/NANDO_2200715 NANDO:2200715 小児慢性特定疾病 Specific pediatric chronic disease 先天性角化異常症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/1756 1756 DMD dystroglycan binding | structural constituent of cytoskeleton | protein binding | nitric-oxide synthase binding | zinc ion binding | actin binding | myosin binding | vinculin binding | structural constituent of muscle http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0017166 | http://purl.obolibrary.org/obo/GO_0008307 7592992 | 3282674 | 10747910,10767429,16000376,16777071,18468998,19109891,20530487,21115837,25416956,25910212,27225184,28514442,31515488,32296183,33961781,7844150,8576247,9356463 | 7545544 | | 12376554,16803572 | 16803572 | 16803572 | 16000376,3287171 http://nanbyodata.jp/ontology/NANDO_2200856 NANDO:2200856 小児慢性特定疾病 Specific pediatric chronic disease デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy MONDO:0010679 exactMatch http://glycosmos.org/glycogene/1759 1759 DNM1 protein kinase binding | GTP binding | microtubule binding | RNA binding | identical protein binding | protein homodimerization activity | phosphatidylinositol-3,4,5-trisphosphate binding | protein binding | GDP binding | GTPase activity | phosphatidylinositol-4,5-bisphosphate binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005546 | | | 22681889 | 20428113,20700106,21927000,21962517,26302298,30069048 | 20428113 | 9765310 | 10206341,12791276,15252009,15703209,16234328,16432212,17474147,17500595,18353773,20935625,21706016,21900206,24282027,29949766,31980649,33961781,35271311,37871017,9922133 | | 20428113 | 10074457,9765310 http://nanbyodata.jp/ontology/NANDO_2200879 NANDO:2200879 小児慢性特定疾病 Specific pediatric chronic disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/1785 1785 DNM2 SH3 domain binding | microtubule binding | GTP binding | GTPase activity | enzyme binding | protein binding | membrane scission GTPase motor activity | phosphatidylinositol-4,5-bisphosphate binding http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990606 | http://purl.obolibrary.org/obo/GO_0005546 18388313 | 7590285 | 7590285 | 11583995,34744632 | 11583995 | 11583995,15703209,16325581,16551695,16636290,16696976,17257598,17412836,17676042,18353773,18388313,18480402,19380743,20711168,21706016,21900206,21988832,22022388,22623184,24970086,27107012,29437695,31980649,32296183,32315611,32814053,33961781,35271311 | | 34744632 http://nanbyodata.jp/ontology/NANDO_2200855 NANDO:2200855 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性運動感覚ニューロパチー Hereditary Motor and Sensory Neuropathy MONDO:0015626 closeMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10000 10000 AKT3 3-phosphoinositide-dependent protein kinase activity | histone H4S1 kinase activity | DNA-dependent protein kinase activity | histone H2BS14 kinase activity | histone H2BS36 kinase activity | histone H3T6 kinase activity | ATP binding | histone H3T45 kinase activity | histone H2AS121 kinase activity | histone H3T11 kinase activity | ribosomal protein S6 kinase activity | histone H2AXS139 kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | histone H3S28 kinase activity | histone H3T3 kinase activity | protein binding | histone H2AS1 kinase activity | protein kinase activity | Rho-dependent protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | AMP-activated protein kinase activity | histone H3S57 kinase activity | histone H3S10 kinase activity http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035175 | | | | | | 16540465 | | | | | | 16540465 | | | | 12176997,17544405,19713527,20059950,25036637,25241761,33961781 | | 10092583 | | | | | | http://nanbyodata.jp/ontology/NANDO_2201394 NANDO:2201394 小児慢性特定疾病 Specific pediatric chronic disease 片側巨脳症 Hemimegaloencephaly MONDO:0020492 exactMatch http://glycosmos.org/glycogene/3679 3679 ITGA7 metal ion binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | 22779914 | http://nanbyodata.jp/ontology/NANDO_2200861 NANDO:2200861 小児慢性特定疾病 Specific pediatric chronic disease メロシン欠損型先天性筋ジストロフィー Merosin-deficient congenital muscular dystrophy MONDO:0011925 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_2200967 NANDO:2200967 小児慢性特定疾病 Specific pediatric chronic disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/3908 3908 LAMA2 extracellular matrix structural constituent | signaling receptor binding | structural molecule activity http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 25037231,27068509,27559042,28675934 | | 2185464 http://nanbyodata.jp/ontology/NANDO_2200861 NANDO:2200861 小児慢性特定疾病 Specific pediatric chronic disease メロシン欠損型先天性筋ジストロフィー Merosin-deficient congenital muscular dystrophy MONDO:0011925 exactMatch http://glycosmos.org/glycogene/6792 6792 CDKL5 cyclin-dependent protein serine/threonine kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | small GTPase binding | kinase activity | ATP binding | protein kinase activity http://purl.obolibrary.org/obo/GO_0004693 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/6812 6812 STXBP1 protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043274 | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6892 6892 TAPBP protein folding chaperone | unfolded protein binding | TAP2 binding | peptide antigen binding | protein binding | TAP1 binding | TAP complex binding | molecular adaptor activity | MHC class I protein binding | MHC class I protein complex binding http://purl.obolibrary.org/obo/GO_0044183 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0046979 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046978 | http://purl.obolibrary.org/obo/GO_0062061 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0023024 36104323 | 12788224 | 12047747,12788224,22638925 | 12788224 | 12213826,15793001,17055437,18802093,19201886,22810586 | 12047747,12788224,22638925 | 17947644 | 17947644 | 12788224 | http://nanbyodata.jp/ontology/NANDO_2200701 NANDO:2200701 小児慢性特定疾病 Specific pediatric chronic disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/6925 6925 TCF4 TFIIB-class transcription factor binding | E-box binding | DNA binding | identical protein binding | beta-catenin binding | sequence-specific double-stranded DNA binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0001093 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003700 8978694 | 8978694 | 1681116 | 10903890,25609649 | 29739711 | 28473536 | 10903890,16549780,17318191,17983804,19534813,21103407,21743491,21988832,25402006,25416956,25466284,25609649,25910212,26871637,28051067,28514442,29361949,29892012,31515488,32296183,32814053,33961781,35140242,36217029,37207277,9824680 | 12651860,8978694 | | 8978694 | 8978694 | 11802795,2105528 http://nanbyodata.jp/ontology/NANDO_2200929 NANDO:2200929 小児慢性特定疾病 Specific pediatric chronic disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/64581 64581 CLEC7A metal ion binding | (1->3)-beta-D-glucan binding | MHC protein binding | pattern recognition receptor activity | identical protein binding | carbohydrate binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001872 | http://purl.obolibrary.org/obo/GO_0042287 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515 | 22267217,24721111,25251945 | 11567029 | 11567029 | 32296183 | 11567029 | 21516116,23674515,25416956,31515488,31875558,32296183 http://nanbyodata.jp/ontology/NANDO_2200764 NANDO:2200764 小児慢性特定疾病 Specific pediatric chronic disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/23236 23236 PLCB1 phosphatidylinositol-4,5-bisphosphate binding | identical protein binding | phospholipase C activity | calmodulin binding | enzyme binding | phosphatidylinositol phospholipase C activity | protein binding | lamin binding | GTPase activator activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005509 12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/23236 23236 PLCB1 phosphatidylinositol-4,5-bisphosphate binding | identical protein binding | phospholipase C activity | calmodulin binding | enzyme binding | phosphatidylinositol phospholipase C activity | protein binding | lamin binding | GTPase activator activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005509 12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | http://nanbyodata.jp/ontology/NANDO_2201408 NANDO:2201408 小児慢性特定疾病 Specific pediatric chronic disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/25939 25939 SAMHD1 single-stranded DNA binding | deoxynucleoside triphosphate hydrolase activity | dGTPase activity | identical protein binding | RNA binding | dGTP binding | zinc ion binding | RNA nuclease activity | GTP binding | protein binding | nucleic acid binding http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0106375 | http://purl.obolibrary.org/obo/GO_0008832 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0032567 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004540 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003676 29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318 http://nanbyodata.jp/ontology/NANDO_2200893 NANDO:2200893 小児慢性特定疾病 Specific pediatric chronic disease エカルディ・グティエール症候群 Aicardi-Goutières Syndrome MONDO:0018866 exactMatch http://glycosmos.org/glycogene/23512 23512 SUZ12 transcription corepressor binding | enzyme activator activity | protein binding | chromatin DNA binding | promoter-specific chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | methylated histone binding | zinc ion binding | lncRNA binding | metal ion binding http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0046872 29628311 | 15385962,28229514 | 17560333,19734898,20075857,20543829,21078963,22009739,22439931,23104054,23238014,23684459,24183680,24981860,26496610,27705803,27728805,28229514,29628311,29909548,30026490,30923826,33961781,34591612,35016035,37553330 | | | | 21029866 | | | http://nanbyodata.jp/ontology/NANDO_2200957 NANDO:2200957 小児慢性特定疾病 Specific pediatric chronic disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/23522 23522 KAT6B histone H3K18 acetyltransferase activity | metal ion binding | chromatin binding | DNA binding | histone H2BK5 acetyltransferase activity | protein binding | histone H4K8 acetyltransferase activity | histone H4K5 acetyltransferase activity | histone H3K27 acetyltransferase activity | histone acetyltransferase activity | transcription coactivator activity | histone H3K122 acetyltransferase activity | histone H3 acetyltransferase activity | histone H4K16 acetyltransferase activity | histone H3K36 acetyltransferase activity | zinc ion binding | histone H3K9 acetyltransferase activity | protein-containing complex binding | histone H2AK9 acetyltransferase activity | histone H4K12 acetyltransferase activity | histone H2BK12 acetyltransferase activity | histone H3K23 acetyltransferase activity | histone H3K4 acetyltransferase activity | transcription coregulator activity | histone H3K56 acetyltransferase activity | peptide-lysine-N-acetyltransferase activity | histone H2AK5 acetyltransferase activity | histone H3K14 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0044014 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0010484 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0036408 | | | | | 11965546 | | | | 10497217,11965546 | 11965546 | | | | | | | | | | | | | | | 11965546 | | 16387653 http://nanbyodata.jp/ontology/NANDO_2200982 NANDO:2200982 小児慢性特定疾病 Specific pediatric chronic disease ヤング・シンプソン症候群 Young-Simpson syndrome MONDO:0011365 exactMatch http://glycosmos.org/glycogene/64421 64421 DCLRE1C 5'-3' exonuclease activity | damaged DNA binding | endonuclease activity | 5'-3' DNA exonuclease activity | protein binding | single-stranded DNA endodeoxyribonuclease activity http://purl.obolibrary.org/obo/GO_0008409 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0004519 | http://purl.obolibrary.org/obo/GO_0035312 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000014 11955432 | | | | 22529269,23219551,23523427,25941166,28780862,33961781 | 11955432 http://nanbyodata.jp/ontology/NANDO_2200697 NANDO:2200697 小児慢性特定疾病 Specific pediatric chronic disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/115650 115650 TNFRSF13C signaling receptor activity http://purl.obolibrary.org/obo/GO_0038023 "" http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/23495 23495 TNFRSF13B protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 10801128,10880535,10956646,20676093,25416956,25910212,32296183 | 9311921 http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/25836 25836 NIPBL transcription corepressor activity | histone deacetylase binding | cohesin loader activity | chromo shadow domain binding | chromatin binding | mediator complex binding | promoter-specific chromatin binding | protein binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0005515 18854353 | 18854353 | 22628566 | 15882967 | | | | 16682347,16802858,17577209,21934712,22628566,26496610 http://nanbyodata.jp/ontology/NANDO_2200958 NANDO:2200958 小児慢性特定疾病 Specific pediatric chronic disease コルネリア・デランゲ症候群 Cornelia de Lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/11152 11152 WDR45 protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0080025 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_1901981 | http://purl.obolibrary.org/obo/GO_0032266 20562859,28561066,31412244,33961781,34524948,35271311 | | 28561066 | | 28561066 | 31271352 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/11152 11152 WDR45 protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0080025 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_1901981 | http://purl.obolibrary.org/obo/GO_0032266 20562859,28561066,31412244,33961781,34524948,35271311 | | 28561066 | | 28561066 | 31271352 http://nanbyodata.jp/ontology/NANDO_2201414 NANDO:2201414 小児慢性特定疾病 Specific pediatric chronic disease WDR45関連神経変性症 WDR45 associated neurodegeneration MONDO:0010476 exactMatch http://glycosmos.org/glycogene/11152 11152 WDR45 protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0080025 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_1901981 | http://purl.obolibrary.org/obo/GO_0032266 20562859,28561066,31412244,33961781,34524948,35271311 | | 28561066 | | 28561066 | 31271352 http://nanbyodata.jp/ontology/NANDO_1201150 NANDO:1201150 指定難病 Designated intractable disease 脳内鉄沈着神経変性症5型 Neurodegeneration with brain iron accumulation type5 MONDO:0010476 exactMatch http://glycosmos.org/glycogene/2022 2022 ENG transmembrane signaling receptor activity | coreceptor activity | BMP binding | protein binding | signaling receptor activator activity | transforming growth factor beta binding | transforming growth factor beta receptor activity | type II transforming growth factor beta receptor binding | galactose binding | protein homodimerization activity | type I transforming growth factor beta receptor binding | glycosaminoglycan binding | identical protein binding | activin binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030546 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048185 18974388 | 12015308,18223685 | 9872992 | 15702480,20856203,22940691,23868260,28564608,31540324,9872992 | 12015308 | 1326540,8370410,9872992 | | 12015308,8294451 | 3262645 | 8370410 | 12015308,18974388,8294451 | 3262645,8294451 | 28564608 | 11382917 http://nanbyodata.jp/ontology/NANDO_2201034 NANDO:2201034 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia MONDO:0019180 exactMatch http://glycosmos.org/glycogene/2033 2033 EP300 histone H3K18 acetyltransferase activity | acyltransferase activity | nuclear androgen receptor binding | histone H2BK5 acetyltransferase activity | tau protein binding | zinc ion binding | histone H3K56 acetyltransferase activity | histone acetyltransferase activity | histone lactyltransferase activity | lysine N-acetyltransferase activity, acting on acetyl phosphate as donor | histone H3K27 acetyltransferase activity | acetylation-dependent protein binding | protein binding | histone H3 acetyltransferase activity | histone H2AK9 acetyltransferase activity | protein propionyltransferase activity | DNA-binding transcription factor binding | histone H3K4 acetyltransferase activity | pre-mRNA intronic binding | peptide-lysine-N-acetyltransferase activity | damaged DNA binding | chromatin DNA binding | histone H4K12 acetyltransferase activity | histone H3K36 acetyltransferase activity | histone butyryltransferase activity | histone H2BK12 acetyltransferase activity | transcription coactivator activity | chromatin binding | histone H2B acetyltransferase activity | transcription coregulator binding | histone H3K23 acetyltransferase activity | NF-kappaB binding | peptide butyryltransferase activity | histone H4K16 acetyltransferase activity | beta-catenin binding | histone H4K5 acetyltransferase activity | peptide N-acetyltransferase activity | DNA binding | nuclear receptor binding | histone H3K122 acetyltransferase activity | p53 binding | RNA polymerase II-specific DNA-binding transcription factor binding | peptide 2-hydroxyisobutyryltransferase activity | histone H2AK5 acetyltransferase activity | histone H3K9 acetyltransferase activity | histone H4K8 acetyltransferase activity | acetyltransferase activity | protein-containing complex binding | histone H4 acetyltransferase activity | histone H3K14 acetyltransferase activity | transcription coactivator binding | STAT family protein binding | histone crotonyltransferase activity http://purl.obolibrary.org/obo/GO_0043993 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0044014 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0032931 | http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0120301 | http://purl.obolibrary.org/obo/GO_0004468 | http://purl.obolibrary.org/obo/GO_0044017 | http://purl.obolibrary.org/obo/GO_0140033 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0010484 | http://purl.obolibrary.org/obo/GO_0044012 | http://purl.obolibrary.org/obo/GO_0061920 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0044016 | http://purl.obolibrary.org/obo/GO_0097157 | http://purl.obolibrary.org/obo/GO_0061733 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0043997 | http://purl.obolibrary.org/obo/GO_0044018 | http://purl.obolibrary.org/obo/GO_0140069 | http://purl.obolibrary.org/obo/GO_0044015 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0044013 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0043994 | http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0140065 | http://purl.obolibrary.org/obo/GO_0046972 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0043995 | http://purl.obolibrary.org/obo/GO_0034212 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0140908 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0106226 | http://purl.obolibrary.org/obo/GO_0043999 | http://purl.obolibrary.org/obo/GO_0043992 | http://purl.obolibrary.org/obo/GO_0043996 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0036408 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0140068 21131905 | 17403783 | 18487222 | | 28386764 | | | 10362258,12040021,14645221,25818647 | 31645732 | 20019387 | 21131905,32691935 | 18782771 | 10049825,10330164,10518217,10702269,10722728,11029584,11073990,11430825,11511361,11581164,11909954,11940591,11940655,12368347,12435739,12527917,12586840,12743606,12750254,12929931,1331501,14645221,14716005,14752053,14759370,15075319,15261140,15380363,15509808,15542844,15588252,15632193,15843474,15890677,16611888,16652169,16760386,16864582,16917507,17075044,17150957,17382325,17403783,17438265,17476304,17872950,17906639,18160048,18268343,18391200,18451878,18485870,18509338,18690848,18722353,19047049,19064921,19071119,19217391,19218448,19234109,19339993,19680224,20019387,20089040,20228809,20603618,20609350,20660480,20808282,20856196,21108945,21471221,21513714,21988832,22770219,23010591,23145062,23441852,23455922,23461825,23746844,23811396,23870121,23999430,24229708,24413532,24421387,24939902,25219498,25245946,25314079,25519132,25651062,26302407,26751287,26983400,27018634,28128295,28514442,33961781,34637754,8684459,9018065,9194564,9194565,9811832,9881977,9887100 | 12609999,27256286 | | 17267393 | 15261140,15674325,20590529 | | | 15653507,15919823,16285960,18782771,22084251,23962722,24120661,28262505,30193097,30197302,32561715 | 24939902 | | | | | | 10362258,10518217,11349124,11940591,12435739,12586840,12609999,12929931,15261140,16257975,16687403,17641689,18487222,23811396 | 17641689,24939902,25818647 | 10821277 | 8684459 | | 23811396 | 17267393,29775581 | | 12408825 | | | 9194565 | 9862959 | 23415232 | | 20018936,23329847 | | | | | 12435739,12456660,16135789,18722353,20228809,21084751,23811396,24939902 | | 10821277,12609999,16325578 | | 11349124 | 26479788 | 25818647 http://nanbyodata.jp/ontology/NANDO_2200955 NANDO:2200955 小児慢性特定疾病 Specific pediatric chronic disease ルビンシュタイン・テイビ症候群 Rubinstein-Taybi syndrome MONDO:0019188 exactMatch http://glycosmos.org/glycogene/2073 2073 ERCC5 endonuclease activity | endodeoxyribonuclease activity | single-stranded DNA binding | metal ion binding | RNA polymerase II complex binding | bubble DNA binding | protein homodimerization activity | double-stranded DNA binding | DNA endonuclease activity | damaged DNA binding | enzyme activator activity | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0004519 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000993 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0004520 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 32522879,32821917 | 12644470,8090225 | 12644470 | | 16246722 | 16246722,32821917 | 10026181 | 12644470,8090225 | 12644470,8090225 | 32821917 | 9927729 | 11259578 | 15358233,16246722,17268471,26833090,8652557,9305916,9927729 http://nanbyodata.jp/ontology/NANDO_2201002 NANDO:2201002 小児慢性特定疾病 Specific pediatric chronic disease 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 exactMatch http://glycosmos.org/glycogene/2146 2146 EZH2 RNA binding | chromatin DNA binding | histone H3 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | nucleosome binding | protein-lysine N-methyltransferase activity | chromatin binding | histone H3K27 methyltransferase activity | protein binding | RNA polymerase II core promoter sequence-specific DNA binding | histone methyltransferase activity | primary miRNA binding | promoter-specific chromatin binding | lncRNA binding | histone binding | histone H3K27 trimethyltransferase activity | transcription corepressor activity | transcription corepressor binding | ribonucleoprotein complex binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0016279 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0046976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0042054 | http://purl.obolibrary.org/obo/GO_0070878 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0140951 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0043021 35682829 | 19734898 | | | 33479123 | 19144645,25620564 | 20154697 | 15385962,22323599,24474760,28229514,30026490,30923826 | 11571280,16179254,16357870,17560333,19734898,20075857,20543829,22009739,22094255,22439931,22897849,23142980,23238014,23455924,23684459,24074865,24183680,24474760,24981860,25416956,25417162,26496610,27705803,27728805,27728808,28229514,29628311,29909548,30026490,30510991,30923826,31515488,32051553,32296183,32814053,33961781,34591612,35016035,37553330 | | 26694085 | | 24623306 | | 33479123 | | | 29628311 | http://nanbyodata.jp/ontology/NANDO_2200957 NANDO:2200957 小児慢性特定疾病 Specific pediatric chronic disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/2162 2162 F13A1 protein-glutamine gamma-glutamyltransferase activity | protein binding | metal ion binding http://purl.obolibrary.org/obo/GO_0003810 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 27363989 | 32814053 | http://nanbyodata.jp/ontology/NANDO_2200681 NANDO:2200681 小児慢性特定疾病 Specific pediatric chronic disease 第XIII因子欠乏症 Factor XIII deficiency MONDO:0018029 closeMatch http://glycosmos.org/glycogene/2165 2165 F13B "" "" "" http://nanbyodata.jp/ontology/NANDO_2200681 NANDO:2200681 小児慢性特定疾病 Specific pediatric chronic disease 第XIII因子欠乏症 Factor XIII deficiency MONDO:0018029 closeMatch http://glycosmos.org/glycogene/2147 2147 F2 thrombospondin receptor activity | protein binding | growth factor activity | lipopolysaccharide binding | signaling receptor binding | receptor ligand activity | heparin binding | serine-type endopeptidase activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0070053 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005509 2435757 | 14691232,16230339,16230340,2013320,28743742,3279057,32814053,6323392,8530382,8626514,9183005 | 8626514 | 20421939 | 12855810,8626514 | 10761923 | 20421939 | 12855810,1672265 | http://nanbyodata.jp/ontology/NANDO_2200673 NANDO:2200673 小児慢性特定疾病 Specific pediatric chronic disease 先天性プロトロンビン欠乏症 Hypoprothrombinemia MONDO:0013361 exactMatch http://glycosmos.org/glycogene/2157 2157 F8 copper ion binding | oxidoreductase activity | protein binding http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | | 18492805,26157780,27749002,32814053,7756647,8562925 http://nanbyodata.jp/ontology/NANDO_2200676 NANDO:2200676 小児慢性特定疾病 Specific pediatric chronic disease 血友病Ａ Hemophilia A MONDO:0010602 exactMatch http://glycosmos.org/glycogene/2158 2158 F9 calcium ion binding | protein binding | endopeptidase activity | metal ion binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004252 14722079,20121197,9169594 | 26157780,26414444 | 20121197,2592373 | 14722079 | 8632006 http://nanbyodata.jp/ontology/NANDO_2200677 NANDO:2200677 小児慢性特定疾病 Specific pediatric chronic disease 血友病Ｂ Hemophilia B MONDO:0010604 exactMatch http://glycosmos.org/glycogene/2332 2332 FMR1 protein heterodimerization activity | mRNA binding | N6-methyladenosine-containing RNA reader activity | molecular condensate scaffold activity | RNA strand annealing activity | G-quadruplex RNA binding | poly(G) binding | RNA stem-loop binding | mRNA 5'-UTR binding | poly(A) binding | microtubule binding | dynein complex binding | protein binding | chromatin binding | methylated histone binding | translation initiation factor binding | poly(U) RNA binding | transmembrane transporter binding | signaling adaptor activity | translation regulator activity | identical protein binding | protein homodimerization activity | miRNA binding | RNA binding | mRNA 3'-UTR binding | translation repressor activity | sequence-specific mRNA binding | siRNA binding | ribosome binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_1990247 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0033592 | http://purl.obolibrary.org/obo/GO_0002151 | http://purl.obolibrary.org/obo/GO_0034046 | http://purl.obolibrary.org/obo/GO_0035613 | http://purl.obolibrary.org/obo/GO_0048027 | http://purl.obolibrary.org/obo/GO_0008143 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0031369 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0045182 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035198 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0030371 | http://purl.obolibrary.org/obo/GO_1990825 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0043022 7489725 | 11157796,18936162,25561520,30765518,31439799 | 31753916 | 30765518,31439799 | 17057366 | 18653529,21642970,25464849,26374839 | 24204304,7688265 | 15805463,19166269 | 19166269 | | | | 10556305,11157796,11438699,12837692,15380484,15381419,16407062,16571602,18093976,18936162,21653829,21771594,24514761,24658146,24981860,25416956,25464849,26949739,31413325,31439799,32525608,32814053,33961781,36950384,37207277,39251607,7489725 | | 24813610 | 24658146 | 24204304,7688265,8156595 | 25561520 | 31439799 | | 11157796,17850748,21446998,31413325 | 7489725 | 17057366 | 10496225,15381419,22658674,22681889 | 17417632 | 11157796 | 12927206,23235829 | 17057366 | 24658146 http://nanbyodata.jp/ontology/NANDO_2200840 NANDO:2200840 小児慢性特定疾病 Specific pediatric chronic disease 脆弱Ｘ症候群 Fragile X syndrome MONDO:0010383 exactMatch http://glycosmos.org/glycogene/2562 2562 GABRB3 identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030594 | http://purl.obolibrary.org/obo/GO_0004890 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914 http://nanbyodata.jp/ontology/NANDO_2200879 NANDO:2200879 小児慢性特定疾病 Specific pediatric chronic disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/2658 2658 GDF2 cytokine activity | growth factor activity | protein serine/threonine kinase activator activity | protein binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0005515 32082362 | 19903896,7664647 | 7664647 | 17068149,28564608 http://nanbyodata.jp/ontology/NANDO_2201034 NANDO:2201034 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia MONDO:0019180 exactMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/6890 6890 TAP1 MHC class I protein binding | protein homodimerization activity | ABC-type peptide antigen transporter activity | peptide transmembrane transporter activity | MHC class Ib protein binding | metal ion binding | TAP2 binding | TAP1 binding | ADP binding | protein binding | peptide antigen binding | ATP hydrolysis activity | ATP binding http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015433 | http://purl.obolibrary.org/obo/GO_1904680 | http://purl.obolibrary.org/obo/GO_0023029 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0046979 | http://purl.obolibrary.org/obo/GO_0046978 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | | 11133832,17418234,25377891,25656091,7673167 | 17418234 | 10605026 | | 11133832,1538751,15518576 | | 11532960 | 12213826,15793001,16828748,17055437,18802093,19165146,19201886,19297616,22810586,26789246,28514442,30833792,32296183,33961781 | 11133832,7500034 | | 11133832,15793001,7673167 http://nanbyodata.jp/ontology/NANDO_2200701 NANDO:2200701 小児慢性特定疾病 Specific pediatric chronic disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/2812 2812 GP1BB identical protein binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 18674540 | 3353370 | 11943773,18674540,18789323,4044584 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/2719 2719 GPC3 protein binding | peptidyl-dipeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0060422 17549790,29162697 | 17549790 http://nanbyodata.jp/ontology/NANDO_2200978 NANDO:2200978 小児慢性特定疾病 Specific pediatric chronic disease シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome MONDO:0010731 exactMatch http://glycosmos.org/glycogene/2239 2239 GPC4 coreceptor activity | protein binding http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0005515 24431302 | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200978 NANDO:2200978 小児慢性特定疾病 Specific pediatric chronic disease シンプソン・ゴラビ・ベーメル症候群 Simpson-Golabi-Behmel syndrome MONDO:0010731 exactMatch http://glycosmos.org/glycogene/2859 2859 GPR35 C-X-C chemokine receptor activity | G protein-coupled receptor activity http://purl.obolibrary.org/obo/GO_0016494 | http://purl.obolibrary.org/obo/GO_0004930 25411203,29068046,29875152 | 16754668,17940199 http://nanbyodata.jp/ontology/NANDO_2200929 NANDO:2200929 小児慢性特定疾病 Specific pediatric chronic disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/2904 2904 GRIN2B glycine binding | protein binding | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | amyloid-beta binding | zinc ion binding | NMDA glutamate receptor activity | ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | glutamate-gated calcium ion channel activity | glutamate binding http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004972 | http://purl.obolibrary.org/obo/GO_0099507 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0016595 17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/2904 2904 GRIN2B glycine binding | protein binding | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | amyloid-beta binding | zinc ion binding | NMDA glutamate receptor activity | ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | glutamate-gated calcium ion channel activity | glutamate binding http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004972 | http://purl.obolibrary.org/obo/GO_0099507 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0016595 17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | http://nanbyodata.jp/ontology/NANDO_2201400 NANDO:2201400 小児慢性特定疾病 Specific pediatric chronic disease GRIN2B関連神経発達異常症 GRIN2B-related neurodevelopmental disorder MONDO:0013509 closeMatch http://glycosmos.org/glycogene/2904 2904 GRIN2B glycine binding | protein binding | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | amyloid-beta binding | zinc ion binding | NMDA glutamate receptor activity | ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | glutamate-gated calcium ion channel activity | glutamate binding http://purl.obolibrary.org/obo/GO_0016594 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004972 | http://purl.obolibrary.org/obo/GO_0099507 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0016595 17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | http://nanbyodata.jp/ontology/NANDO_2201400 NANDO:2201400 小児慢性特定疾病 Specific pediatric chronic disease GRIN2B関連神経発達異常症 GRIN2B-related neurodevelopmental disorder MONDO:0014505 closeMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_2200825 NANDO:2200825 小児慢性特定疾病 Specific pediatric chronic disease レット症候群 Rett syndrome MONDO:0010726 exactMatch http://glycosmos.org/glycogene/4204 4204 MECP2 siRNA binding | protein binding | DNA binding | promoter-specific chromatin binding | molecular adaptor activity | mRNA binding | protein domain specific binding | identical protein binding | unmethylated CpG binding | nucleic acid binding | transcription corepressor activity | histone reader activity | molecular condensate scaffold activity | methyl-CpG binding | double-stranded methylated DNA binding | chromatin binding | four-way junction DNA binding | RNA binding | chromatin DNA binding | histone deacetylase binding http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140566 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0008327 | http://purl.obolibrary.org/obo/GO_0010385 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042826 | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | http://nanbyodata.jp/ontology/NANDO_2200984 NANDO:2200984 小児慢性特定疾病 Specific pediatric chronic disease MECP2重複症候群 MECP2 duplication syndrome MONDO:0010283 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2200958 NANDO:2200958 小児慢性特定疾病 Specific pediatric chronic disease コルネリア・デランゲ症候群 Cornelia de Lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/4359 4359 MPZ structural molecule activity http://purl.obolibrary.org/obo/GO_0005198 7693129 http://nanbyodata.jp/ontology/NANDO_2200855 NANDO:2200855 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性運動感覚ニューロパチー Hereditary Motor and Sensory Neuropathy MONDO:0015626 closeMatch http://glycosmos.org/glycogene/4485 4485 MST1 protein binding | endopeptidase activity | serine-type endopeptidase activity | histone kinase activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0035173 | http://purl.obolibrary.org/obo/GO_0030971 22087277,25193665,32296183 | | | | 22087277 http://nanbyodata.jp/ontology/NANDO_2200929 NANDO:2200929 小児慢性特定疾病 Specific pediatric chronic disease 原発性硬化性胆管炎 Primary sclerosing cholangitis MONDO:0013433 exactMatch http://glycosmos.org/glycogene/4615 4615 MYD88 protein binding | interleukin-1 receptor binding | ATP-dependent histone chaperone activity | Toll-like receptor binding | death receptor binding | Toll binding | identical protein binding | signaling adaptor activity | molecular adaptor activity | TIR domain binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005149 | http://purl.obolibrary.org/obo/GO_0140674 | http://purl.obolibrary.org/obo/GO_0035325 | http://purl.obolibrary.org/obo/GO_0005123 | http://purl.obolibrary.org/obo/GO_0005121 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0070976 10880445,11544529,12860405,15728506,16189514,16293622,16365431,17126326,17258210,17567694,17583698,19948740,20485341,20676093,20696886,21334391,21829704,21988832,22155231,22581261,23143332,24316379,25416956,25502805,25910212,26592460,26752465,26871637,28514442,29281743,29990310,31515488,32296183,33961781,36232715 | | | | 9374458 | | 11544529,17258210,21516116,21988832,22155231,25416956,25910212,27107012,29892012,32296183 | 16751103 | 16751103,9430229,9734363 | 19509286 http://nanbyodata.jp/ontology/NANDO_2200763 NANDO:2200763 小児慢性特定疾病 Specific pediatric chronic disease MyD88欠損症 MyD88 deficiency MONDO:0012839 exactMatch http://glycosmos.org/glycogene/4763 4763 NF1 GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031210 1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824 http://nanbyodata.jp/ontology/NANDO_2201003 NANDO:2201003 小児慢性特定疾病 Specific pediatric chronic disease レックリングハウゼン病 von Recklinghausen's disease MONDO:0018975 exactMatch http://glycosmos.org/glycogene/4790 4790 NFKB1 transcription coactivator binding | DNA-binding transcription factor activity | chromatin binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coregulator activity | identical protein binding | DNA-binding transcription factor activity, RNA polymerase II-specific | actinin binding | protein sequestering activity http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0140311 23811396 | 17426251,8413223 | | 10023675,10498867,11297557,11526476,11931769,12482991,12832462,14624448,14743216,15169888,15799966,16108830,16306601,16319921,17003112,18045535,18212740,19350539,19358846,20195357,20237821,20547752,21270162,21483817,21988832,22808155,23636254,24634218,25241761,25609649,25852190,26496610,32814053,33961781,35140242,35271311,7651415,8196632,8246997,8441377,9865693 | 1406630,16938301,23811396,34721373 | 16938301,17426251,18718911 | 7959007 | 24434510 | 1406630,23811396,26801246 | | 12482991,12832462,21988832,25609649 | 17426251,26801246 | 25411248 | http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/4791 4791 NFKB2 DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 1760839,1876189 | 28473536 | 11239468,11526476,14743216,16108830,18617892,21988832,25609649,25852190,28514442,33961781,35140242,35271311,8441377 | 12835724 | | 12835724 http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/4860 4860 PNP protein binding | purine-nucleoside phosphorylase activity | purine nucleobase binding | guanosine phosphorylase activity | nucleoside binding | identical protein binding | phosphate ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004731 | http://purl.obolibrary.org/obo/GO_0002060 | http://purl.obolibrary.org/obo/GO_0047975 | http://purl.obolibrary.org/obo/GO_0001882 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042301 32814053 | 16930574,16964310,18938130,23438750,3029074,6771276,9305962 | 9305962 | | 9305962 | 20212140,25502805,31515488,32296183 | 18938130 http://nanbyodata.jp/ontology/NANDO_2200698 NANDO:2200698 小児慢性特定疾病 Specific pediatric chronic disease プリンヌクレオシドホスホリラーゼ欠損症 Purine nucleoside phosphorylase deficiency MONDO:0013171 exactMatch http://glycosmos.org/glycogene/4869 4869 NPM1 NF-kappaB binding | core promoter sequence-specific DNA binding | transcription coactivator activity | ribosomal large subunit binding | protein kinase inhibitor activity | rRNA binding | RNA binding | molecular adaptor activity | ribosomal small subunit binding | chromatin binding | protein kinase binding | Tat protein binding | DNA-binding transcription factor binding | unfolded protein binding | protein homodimerization activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043023 | http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0019843 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 15087454 | 19160485 | 15087454,19160485 | 18809582 | 12882984 | 24106084 | 12058066,22658674,22681889 | 38231884 | 18809582 | | 20352051 | 9094689 | 19160485 | 10211837 | 24106084,9121481 | 12080348,12882984,15144954,15161933,15184379,15989956,16376884,16540653,16648475,16957780,17015463,17318229,17438371,17475909,17535915,17602943,18243139,18259216,18420587,19160485,19188445,19410545,20075868,20080577,20159986,20208519,20618440,20701745,21326211,21822216,21988832,22510990,22528486,22712502,22720776,23019224,23816991,23892143,23972994,24462683,24857377,25416956,25956029,26496610,26871637,28255170,28611246,29568061,30021884,31515488,32296183,32814053,33961781,35271311,35709258,38029384,39251607 | 11602260 http://nanbyodata.jp/ontology/NANDO_2200715 NANDO:2200715 小児慢性特定疾病 Specific pediatric chronic disease 先天性角化異常症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/4915 4915 NTRK2 insulin-like growth factor receptor activity | fibroblast growth factor receptor activity | transmembrane-ephrin receptor activity | protein binding | brain-derived neurotrophic factor binding | ATP binding | boss receptor activity | vascular endothelial growth factor receptor activity | neurotrophin binding | hepatocyte growth factor receptor activity | GPI-linked ephrin receptor activity | brain-derived neurotrophic factor receptor activity | placental growth factor receptor activity | protease binding | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase collagen receptor activity | epidermal growth factor receptor activity | insulin receptor activity | stem cell factor receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048403 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0043121 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0042803 | | | 17341134,35384245,35840571 | | | | | 11738045 | | | 15494731 | | 26094765 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/274 274 BIN1 aspartic-type endopeptidase inhibitor activity | protein binding | RNA polymerase binding | signaling adaptor activity | GTPase binding | clathrin binding | protein-folding chaperone binding | tau protein binding | phospholipid binding | protease binding | lipid binding | identical protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070063 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0051020 | http://purl.obolibrary.org/obo/GO_0030276 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0048156 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0051015 27179792 | 10903846,12604805,12668730,15992821,16275660,16530520,17676042,18647389,18985028,19004523,23399914,23917616,24169621,26395440,26506308,28755476,31413325,32552912,33961781,35271311 | 16530520 | | | 25051234 | 25051234 | 23399914,25051234,28386764,28755476 | | 27179792 | 18658220 | 23917616,31413325 | 26506308 http://nanbyodata.jp/ontology/NANDO_2200867 NANDO:2200867 小児慢性特定疾病 Specific pediatric chronic disease ミオチュブラーミオパチー Myotubular myopathy MONDO:0018947 closeMatch http://glycosmos.org/glycogene/9632 9632 SEC24C zinc ion binding | SNARE binding | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0005515 18843296 | 18843296 | 10075675,15899885,16189514,17428803,18692470,25416956,30842662,31515488,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/150094 150094 SIK1 histone H3T11 kinase activity | histone H3S28 kinase activity | protein serine kinase activity | protein kinase binding | histone H3T45 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | 3-phosphoinositide-dependent protein kinase activity | ATP binding | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T6 kinase activity | magnesium ion binding | histone H4S1 kinase activity | histone H2AT120 kinase activity | histone deacetylase binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | cAMP response element binding protein binding | ribosomal protein S6 kinase activity | 14-3-3 protein binding | histone H2BS14 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0008140 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004694 | | | 18348280 | | | | | 14976552 | | | | 14976552 | | | | | | | | 18348280 | | | | 16306228,32707033,36931259 | | 14976552,18348280 | | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/7046 7046 TGFBR1 transforming growth factor beta receptor activity, type II | metal ion binding | growth factor binding | SMAD binding | activin binding | BMP receptor activity | transforming growth factor beta receptor activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type I | ATP binding | transforming growth factor beta binding | ubiquitin protein ligase binding | transforming growth factor beta receptor activity, type III | type II transforming growth factor beta receptor binding | activin receptor activity, type II | protein serine/threonine kinase activity | activin receptor activity, type I | I-SMAD binding | protein kinase activity | protein binding http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005515 | | 14517293 | 12065756,18625725,8980228,9311995 | | | 12015308,12065756,1326540,1333888,14633705,18625725 | 12015308,19736306 | 8752209 | 12065756 | 11157754,1326540,1333888,14633705 | 12151385 | | 11157754,1333888 | | 12065756,18625725 | | 11278251 | 19736306 | 10025408,11278302,11279102,11583628,12015308,14517293,14580334,15702480,15761148,17099224,18243111,18625725,18758450,18974388,19732720,20856203,21791611,22344298,23723426,23868260,24263861,24658140,25893292,26583432,8622651 http://nanbyodata.jp/ontology/NANDO_2200969 NANDO:2200969 小児慢性特定疾病 Specific pediatric chronic disease ロイス・ディーツ症候群 Loeys-Dietz syndrome MONDO:0018954 exactMatch http://glycosmos.org/glycogene/7048 7048 TGFBR2 activin receptor activity, type II | transforming growth factor beta receptor activity | activin receptor activity, type I | activin receptor activity | SMAD binding | activin binding | transforming growth factor beta receptor activity, type I | BMP receptor activity | transforming growth factor beta binding | ATP binding | protein binding | glycosaminoglycan binding | transforming growth factor beta receptor activity, type II | molecular adaptor activity | transmembrane receptor protein serine/threonine kinase activity | metal ion binding | kinase activator activity | type I transforming growth factor beta receptor binding | protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | type III transforming growth factor beta receptor binding http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0017002 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0019209 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0034714 | 12015308,1326540,1333888,18453574,7852346,8635485 | | | 11157754,18453574 | | | | 11157754,1326540,1333888,18243111,18453574,34568316,7852346 | | 11157754,11278302,11279102,11483955,11850637,12015308,15702480,16530041,18243111,20856203,20860622,21054789,21423151,21441952,21791611,23178117,23868260,24263861,32814053,35443807,7852346,8242742,8555189,8622651,9865696 | 7852346 | 7774578 | 18243111 | 12015308 | | | 11157754,1333888 | | | 11157754 http://nanbyodata.jp/ontology/NANDO_2200969 NANDO:2200969 小児慢性特定疾病 Specific pediatric chronic disease ロイス・ディーツ症候群 Loeys-Dietz syndrome MONDO:0018954 exactMatch http://glycosmos.org/glycogene/355 355 FAS calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005031 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0005515 24914971 | 21382479,7536190,7538908 | 12221075 | 7533181 | 7538908 | 10918185,11003656,11495919,11606059,12724420,12887920,15465831,15917238,16498403,17047155,17159907,18328427,18846110,19118384,20935634,20956295,21109225,21382479,21625644,21713032,21803845,25241761,26942442,33961781,7536190,7538907 http://nanbyodata.jp/ontology/NANDO_2200726 NANDO:2200726 小児慢性特定疾病 Specific pediatric chronic disease 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome MONDO:0017979 exactMatch http://glycosmos.org/glycogene/356 356 FASLG signaling receptor binding | death receptor binding | cytokine activity | tumor necrosis factor receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005123 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0005515 7826947 | | 9333124 | | 12198154,12887920,16318909,16498403,16595635,17761170,19807924,21803845,24025841,25241761,25416956,26871637,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200726 NANDO:2200726 小児慢性特定疾病 Specific pediatric chronic disease 自己免疫性リンパ増殖症候群 Autoimmune lymphoproliferative syndrome MONDO:0017979 exactMatch http://glycosmos.org/glycogene/221037 221037 JMJD1C dioxygenase activity | protein binding | chromatin DNA binding | metal ion binding | zinc ion binding | nuclear thyroid hormone receptor binding | transcription coregulator activity | histone H3K9 demethylase activity http://purl.obolibrary.org/obo/GO_0051213 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0032454 | 17353003,33640491 | | | | 7776974 | | http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/7353 7353 UFD1 protein binding | cysteine-type deubiquitinase activity | polyubiquitin modification-dependent protein binding | K48-linked polyubiquitin modification-dependent protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0036435 11574150,17681147,18775313,20414249,21645854,25959826,26712280,32296183,32814053,33961781,35271311 | 9063746 | | http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/57468 57468 SLC12A5 metal ion binding | potassium:chloride symporter activity | protein kinase binding | ammonium transmembrane transporter activity | chloride transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015379 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0008519 | http://purl.obolibrary.org/obo/GO_0015108 | 12106695 | 24393035 | | 26333769 http://nanbyodata.jp/ontology/NANDO_2201408 NANDO:2201408 小児慢性特定疾病 Specific pediatric chronic disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/57526 57526 PCDH19 calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_2201404 NANDO:2201404 小児慢性特定疾病 Specific pediatric chronic disease PCDH19関連症候群 PCDH19-related syndrome MONDO:0010246 exactMatch http://glycosmos.org/glycogene/57674 57674 RNF213 ubiquitin protein ligase activity | protein binding | chromatin extrusion motor activity | ATP-dependent H3-H4 histone complex chaperone activity | cohesin loader activity | ATP-dependent H2AZ histone chaperone activity | zinc ion binding | ATP binding | ATP hydrolysis activity | ubiquitin-protein transferase activity | DNA clamp loader activity | metal ion binding http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0046872 32139119,33842849 | 25416956 | | | | | | | 21799892,24658080,26126547 | 21799892,26766444 | | http://nanbyodata.jp/ontology/NANDO_2200850 NANDO:2200850 小児慢性特定疾病 Specific pediatric chronic disease もやもや病 Moyamoya disease MONDO:0016820 exactMatch http://glycosmos.org/glycogene/57492 57492 ARID1B DNA binding | transcription coactivator activity | nucleosome binding | protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0005515 | 11734557 | | 12200431,33961781,35271311,36950384 http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/84818 84818 IL17RC signaling receptor binding | coreceptor activity | protein binding | interleukin-17 receptor activity http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 | 20554964 | 24120361,28827714 | 17911633 http://nanbyodata.jp/ontology/NANDO_2200764 NANDO:2200764 小児慢性特定疾病 Specific pediatric chronic disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/57582 57582 KCNT1 metal ion binding | intracellular sodium-activated potassium channel activity | outward rectifier potassium channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005228 | http://purl.obolibrary.org/obo/GO_0015271 | 37494189 | http://nanbyodata.jp/ontology/NANDO_2201408 NANDO:2201408 小児慢性特定疾病 Specific pediatric chronic disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/55636 55636 CHD7 DNA binding | ATP-dependent H2AZ histone chaperone activity | protein binding | ATP hydrolysis activity | cohesin loader activity | double-stranded DNA helicase activity | histone binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin extrusion motor activity | four-way junction helicase activity | ATP binding | ATP-dependent chromatin remodeler activity | promoter-specific chromatin binding | forked DNA-dependent helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | chromatin binding | single-stranded 3'-5' DNA helicase activity | DNA clamp loader activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0003689 | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | http://nanbyodata.jp/ontology/NANDO_2200697 NANDO:2200697 小児慢性特定疾病 Specific pediatric chronic disease オーメン症候群 Omenn syndrome MONDO:0011338 exactMatch http://glycosmos.org/glycogene/103 103 ADAR metal ion binding | double-stranded RNA adenosine deaminase activity | DNA binding | double-stranded RNA binding | protein binding | adenosine deaminase activity | tRNA-specific adenosine deaminase activity | RNA binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003726 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008251 | http://purl.obolibrary.org/obo/GO_0003723 | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200893 NANDO:2200893 小児慢性特定疾病 Specific pediatric chronic disease エカルディ・グティエール症候群 Aicardi-Goutières Syndrome MONDO:0018866 exactMatch http://glycosmos.org/glycogene/9126 9126 SMC3 cis-regulatory region sequence-specific DNA binding | beta-tubulin binding | double-stranded DNA binding | protein heterodimerization activity | mediator complex binding | ATP hydrolysis activity | dynein complex binding | microtubule motor activity | chromatin binding | protein binding | ATP binding http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | 11590136 | | 11590136 | | | 11590136 | 11590136 | | 11590136,11983169,15656913,15737063,15837422,15855230,16682347,16802858,17105772,17112726,17113138,17349791,17962804,18235444,18832153,19629043,19907496,20818333,22293751,22540012,22628566,22885700,23242214,24299456,24981860,26496610,28514442,29263825,29867216,30021884,33961781,35271311,9506951,9789013 | http://nanbyodata.jp/ontology/NANDO_2200958 NANDO:2200958 小児慢性特定疾病 Specific pediatric chronic disease コルネリア・デランゲ症候群 Cornelia de Lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/55209 55209 SETD5 histone H3K9 methyltransferase activity | histone H3K36 methyltransferase activity | histone H3K9 monomethyltransferase activity | transcription corepressor activity | histone H3K9me2 methyltransferase activity | protein binding | methylated histone binding | histone H3K36 trimethyltransferase activity http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0140955 | | | | | 25416956,32296183 | | http://nanbyodata.jp/ontology/NANDO_2200958 NANDO:2200958 小児慢性特定疾病 Specific pediatric chronic disease コルネリア・デランゲ症候群 Cornelia de Lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/135 135 ADORA2A protein-containing complex binding | G protein-coupled adenosine receptor activity | enzyme binding | identical protein binding | protein binding | type 5 metabotropic glutamate receptor binding | lipid binding | alpha-actinin binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001609 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031802 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0005516 | 21393508,21593763 | 16339847 | 18675812,19013155,29568380 | 11571652,12189203,16027149,16339847,16481441,17356572,17689978,19694902,23296780,28102227,28298427,28734904,29568380,31286866,32296183 | | 25692595 | | 25692595 http://nanbyodata.jp/ontology/NANDO_2200901 NANDO:2200901 小児慢性特定疾病 Specific pediatric chronic disease 痙攣重積型急性脳症 Acute encephalopathy with biphasic seizures and late reduced diffusion MONDO:0018198 exactMatch http://glycosmos.org/glycogene/207 207 AKT1 protein binding | AMP-activated protein kinase activity | histone H3T3 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS14 kinase activity | identical protein binding | ATP binding | histone H2AS1 kinase activity | histone H2BS36 kinase activity | histone H2AT120 kinase activity | phosphatidylinositol-3,4,5-trisphosphate binding | ribosomal protein S6 kinase activity | protein serine/threonine kinase activity | protein serine/threonine/tyrosine kinase activity | protein homodimerization activity | histone H4S1 kinase activity | enzyme binding | histone H3S28 kinase activity | protein serine kinase activity | calmodulin binding | protein serine/threonine kinase inhibitor activity | protein kinase activity | 14-3-3 protein binding | histone H3T11 kinase activity | Rho-dependent protein serine/threonine kinase activity | potassium channel activator activity | histone H3T45 kinase activity | histone H3S10 kinase activity | protein kinase binding | histone H2AXS139 kinase activity | histone H2AS121 kinase activity | kinase binding | eukaryotic translation initiation factor 2alpha kinase activity | kinase activity | DNA-dependent protein kinase activity | histone H3S57 kinase activity | phosphatidylinositol-3,4-bisphosphate binding | nitric-oxide synthase regulator activity | histone H3T6 kinase activity | TORC2 complex binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0030291 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0099104 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0043325 | http://purl.obolibrary.org/obo/GO_0030235 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_1904841 10102273,10983986,11154276,11438723,11839802,12176997,12244133,12791994,16044149,16139227,16280327,16282323,16417524,16525023,16537421,16792529,17006541,17577629,17932490,18191226,18292230,18505846,18562279,18624398,18650932,18786403,19162005,19166854,19197339,19262695,19541650,19698782,19713527,19903888,20059950,20086174,20186153,20237237,20333297,20605787,20650008,20682768,20856200,20878056,21044950,21151116,21333377,21621563,21658387,21775285,22309289,22510990,23010592,23251525,23300339,23397142,23434580,23676467,24291004,24412244,24670654,24784001,25190803,25241761,25910212,26256536,26871637,27505672,28514442,29997244,31515488,31980649,32296183,32814053,33505021,33961781,34591612,35271311 | | | | | 17554339,7891724 | 11994271,16540465 | | | | 19203586 | | 10102273,10376603,10983986,11994271,12172553,14749367,15861136,16139227,16540465,17030608,17386266,19573808,19667065,21432781,21711983,23512198,24529379,26440888,28386764,30504268,30514904,31548394,32322062,33594058,8524413 | 22797923 | 10983986 | | | | | 29104511 | 21711983 | 31204173 | 10102273 | | | 33505021 | | | | | | 21177249 | | 14749367 | | | 19203586 | 10376603 | | 21177249 http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/224 224 ALDH3A2 protein homodimerization activity | long-chain-aldehyde dehydrogenase activity | protein binding | aldehyde dehydrogenase (NAD+) activity | 3-chloroallyl aldehyde dehydrogenase activity | long-chain-alcohol oxidase activity | medium-chain-aldehyde dehydrogenase activity http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050061 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004029 | http://purl.obolibrary.org/obo/GO_0004028 | http://purl.obolibrary.org/obo/GO_0046577 | http://purl.obolibrary.org/obo/GO_0052814 25047030 | 18035827,25047030 | 25047030 | 15110319,8528251,9133646 | | 18035827 | 18035827,25047030 http://nanbyodata.jp/ontology/NANDO_2200994 NANDO:2200994 小児慢性特定疾病 Specific pediatric chronic disease シェーグレン・ラルソン症候群 Sjögren-Larsson syndrome MONDO:0010031 exactMatch http://glycosmos.org/glycogene/249 249 ALPL alkaline phosphatase activity | ADP phosphatase activity | phosphoamidase activity | pyrophosphatase activity | calcium ion binding | phosphoethanolamine phosphatase activity | pyridoxal phosphatase activity | inorganic diphosphate phosphatase activity | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0004035 | http://purl.obolibrary.org/obo/GO_0043262 | http://purl.obolibrary.org/obo/GO_0050187 | http://purl.obolibrary.org/obo/GO_0016462 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0052732 | http://purl.obolibrary.org/obo/GO_0033883 | http://purl.obolibrary.org/obo/GO_0004427 | http://purl.obolibrary.org/obo/GO_0016887 12162492,33821301 | | | 12162492,19874193 | 11395499 | 2220817 | 12162492,2220817 | | http://nanbyodata.jp/ontology/NANDO_2201012 NANDO:2201012 小児慢性特定疾病 Specific pediatric chronic disease 低ホスファターゼ症 Hypophosphatasia MONDO:0018570 exactMatch http://glycosmos.org/glycogene/7290 7290 HIRA nucleosome binding | transcription corepressor activity | RNA polymerase II-specific DNA-binding transcription factor binding | histone binding | protein binding http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0005515 | 9731536 | 9731536 | 9731536 | 11342215,16980972,19029251,24981860,26496610,33961781,9710638 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/23765 23765 IL17RA protein binding | interleukin-17 receptor activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 | http://purl.obolibrary.org/obo/GO_0005102 21993848,23695682,24120361,28827714,32353859,33060197,33723527 | 27184415,33723527,9367539 | http://nanbyodata.jp/ontology/NANDO_2200764 NANDO:2200764 小児慢性特定疾病 Specific pediatric chronic disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_2201527 NANDO:2201527 小児慢性特定疾病 Specific pediatric chronic disease ロスムンド・トムソン症候群 Rothmund-Thomson syndrome MONDO:0010002 exactMatch http://glycosmos.org/glycogene/657 657 BMPR1A transforming growth factor beta receptor activity, type II | activin receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type I | metal ion binding | protein serine/threonine kinase activity | protein homodimerization activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | ATP binding | SMAD binding | protein binding | BMP receptor activity | activin receptor activity, type I http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0016361 | | 18184661 | 9136927 | | 12065756 | 18436533 | | | 12065756 | 12065756 | 10881198,11278302,15064755,16127465,16672363,18436533,19229295,19804412,20860622,21054789,21543859,21791611,21976273,24098149,24904118,25938661,33308444 | 12065756 | http://nanbyodata.jp/ontology/NANDO_2200916 NANDO:2200916 小児慢性特定疾病 Specific pediatric chronic disease 若年性ポリポーシス Juvenile polyposis MONDO:0017380 exactMatch http://glycosmos.org/glycogene/695 695 BTK phosphatidylinositol-3,4,5-trisphosphate binding | ATP binding | phospholipase binding | identical protein binding | metal ion binding | zinc ion binding | protein binding | histone H3Y41 kinase activity | non-membrane spanning protein tyrosine kinase activity | phospholipase activator activity | histone H2AXY142 kinase activity | protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043274 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035401 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0016004 | http://purl.obolibrary.org/obo/GO_0140801 | http://purl.obolibrary.org/obo/GO_0004713 17823121 | 11913944 | 11606584,14656219 | 11577348 | | | 11788586,15046600,15539407,16969585,19214191,22366891,22939624,25825872,25910212,28514442,33961781,8892607,9012831,9571151 | | 11606584,14656219,19290921 | 11606584 | | 11913944,34554188,7518558 http://nanbyodata.jp/ontology/NANDO_2200716 NANDO:2200716 小児慢性特定疾病 Specific pediatric chronic disease X連鎖無ガンマグロブリン血症 X-linked agammaglobulinemia MONDO:0010421 exactMatch http://glycosmos.org/glycogene/7403 7403 KDM6A histone H3K27me2/H3K27me3 demethylase activity | chromatin DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | metal ion binding | histone demethylase activity | protein binding http://purl.obolibrary.org/obo/GO_0071558 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0032452 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 17178841,24981860,27705803,32296183,33961781,34667079 http://nanbyodata.jp/ontology/NANDO_2200956 NANDO:2200956 小児慢性特定疾病 Specific pediatric chronic disease 歌舞伎症候群 Kabuki syndrome MONDO:0016512 exactMatch http://glycosmos.org/glycogene/7456 7456 WIPF1 SH3 domain binding | profilin binding | protein binding | actin binding | cytoskeletal anchor activity | protein folding chaperone http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0005522 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0008093 | http://purl.obolibrary.org/obo/GO_0044183 19798448 | 9405671 | 10202051,11331876,12029088,12591280,12620186,16488394,16582881,17213309,17606906,19805221,19817875,20936779,21398607,21516116,21706016,21988832,23414517,25416956,28514442,29892012,32296183,33961781,35271311,36935496,9405671 | | 17141616 | 23870269 http://nanbyodata.jp/ontology/NANDO_2200704 NANDO:2200704 小児慢性特定疾病 Specific pediatric chronic disease ウィスコット・オルドリッチ症候群 Wiskott-Aldrich syndrome MONDO:0010518 exactMatch http://glycosmos.org/glycogene/7508 7508 XPC damaged DNA binding | transcription coactivator activity | RNA polymerase II-specific DNA-binding transcription factor binding | heteroduplex DNA loop binding | DNA damage sensor activity | single-stranded DNA binding | protein binding | bubble DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000404 | http://purl.obolibrary.org/obo/GO_0140612 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0044877 12509299 | 29973595,31527837 | | 19941824 | 10873465,19941824,33937266 | 12509299 | 10488153,10734143,17693435,18024891,21962512,22039351,26278177,26638075,28514442,29973595,31527837,33961781,34591612,34591642,35271311 | 19941824 | 11259578 http://nanbyodata.jp/ontology/NANDO_2201002 NANDO:2201002 小児慢性特定疾病 Specific pediatric chronic disease 色素性乾皮症 Xeroderma pigmentosum MONDO:0019600 exactMatch http://glycosmos.org/glycogene/7535 7535 ZAP70 protein binding | ATP binding | phosphotyrosine residue binding | signaling receptor binding | non-membrane spanning protein tyrosine kinase activity | protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0004713 10318843,10704231,10752619,11855827,11891219,12051764,12359715,12646565,15832366,16273093,16461343,19843936,21957439,22266821,23460737,24658140,24728074,26783323,31980649,7509083,7528772,7761456,8648092,8901551,9185620 | 1423621 | | | 12447358,20135127,9489702 | 1423621,15292186,8613493 http://nanbyodata.jp/ontology/NANDO_2200700 NANDO:2200700 小児慢性特定疾病 Specific pediatric chronic disease ZAP-70欠損症 ZAP-70 deficiency MONDO:0010023 exactMatch http://glycosmos.org/glycogene/773 773 CACNA1A syntaxin binding | amyloid-beta binding | metal ion binding | high voltage-gated calcium channel activity | voltage-gated calcium channel activity | protein binding | calcium ion binding http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 8692999 | 23376566 | | 21883149,23376566,24836863,26716990 | 10753886,12451115,21883149 | 11865310,21078624,33539324,8692999 | http://nanbyodata.jp/ontology/NANDO_2200883 NANDO:2200883 小児慢性特定疾病 Specific pediatric chronic disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/930 930 CD19 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/112744 112744 IL17F cytokine activity | protein heterodimerization activity | cytokine binding | protein homodimerization activity | protein binding | cytokine receptor binding http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005126 11591732 | | 11574464 | 11574464 | 25416956,28827714 | http://nanbyodata.jp/ontology/NANDO_2200764 NANDO:2200764 小児慢性特定疾病 Specific pediatric chronic disease 慢性皮膚粘膜カンジダ症 Chronic mucocutaneous candidiasis MONDO:0015279 exactMatch http://glycosmos.org/glycogene/925 925 CD8A MHC class I protein binding | coreceptor activity | protein kinase binding | MHC class I protein complex binding | protein binding http://purl.obolibrary.org/obo/GO_0042288 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0023024 | http://purl.obolibrary.org/obo/GO_0005515 11131152 | 11131152 | | 2784196,9177355 | 12853576,2470098,2493728,9177355 http://nanbyodata.jp/ontology/NANDO_2200699 NANDO:2200699 小児慢性特定疾病 Specific pediatric chronic disease CD8欠損症 CD8 deficiency MONDO:0012161 exactMatch http://glycosmos.org/glycogene/998 998 CDC42 GBD domain binding | protein binding | identical protein binding | GTP binding | apolipoprotein A-I receptor binding | GTPase activity | G protein activity | mitogen-activated protein kinase kinase kinase binding | protein kinase binding | GTP-dependent protein binding | thioesterase binding | ubiquitin protein ligase activity http://purl.obolibrary.org/obo/GO_0032427 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0031435 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030742 | http://purl.obolibrary.org/obo/GO_0031996 | http://purl.obolibrary.org/obo/GO_0061630 10724160,8625410 | 10051605,10360579,10587647,10816584,10934474,11035016,11157984,11260256,11807099,11889037,12006984,12093730,12606577,12745076,12879077,14676191,15194684,15361624,15728724,16189514,16293614,16443932,16968699,16983070,17145773,17704816,18809683,19171758,19596003,19620963,19798448,20890305,20936779,21029865,21048939,21167153,21311754,21435037,21454543,21566117,21876773,21900206,21988832,22252508,22653441,23022564,23175184,23455922,24076653,24584464,25074804,25150978,25241761,25416956,25502805,26242911,26496610,27150042,28028151,28514442,29734338,31515488,31980649,32296183,32707033,33961781,35271311,7493928,7512369,9082982,9262406,9418861,9422512,9660763,9846874 | 9748241 | 15601624,23620790,8625410 | 16443932 | 11035016,19787194,27917469 | | | 19039103,20873783,21048939,8625410 | | 12612085 | 21435037 http://nanbyodata.jp/ontology/NANDO_2200985 NANDO:2200985 小児慢性特定疾病 Specific pediatric chronic disease 武内・小崎症候群 Takenouchi-Kosaki syndrome MONDO:0014757 exactMatch http://glycosmos.org/glycogene/51135 51135 IRAK4 histone H4S1 kinase activity | histone H2BS14 kinase activity | histone H3T11 kinase activity | protein serine kinase activity | histone H3T45 kinase activity | ATP binding | magnesium ion binding | protein kinase binding | kinase activity | histone H2AXS139 kinase activity | histone H2AS121 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S28 kinase activity | protein binding | ribosomal protein S6 kinase activity | histone H2AT120 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | interleukin-1 receptor binding | histone H3T3 kinase activity | histone H3T6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | AMP-activated protein kinase activity http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005149 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004679 | | | | | | | 33238146 | 11960013 | | | | | 12496252,12860405,19264966,20485341,21903422,23376919,24316379,25502805,25910212,26871637,28514442,31515488,32296183,33238146,33961781 | | | | | | | | | | 11960013 | | | | http://nanbyodata.jp/ontology/NANDO_2200762 NANDO:2200762 小児慢性特定疾病 Specific pediatric chronic disease IRAK4欠損症 IRAK4 deficiency MONDO:0011888 exactMatch http://glycosmos.org/glycogene/3105 3105 HLA-A beta-2-microglobulin binding | RNA binding | T cell receptor binding | peptide antigen binding | TAP complex binding | TAP binding | CD8 receptor binding | signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0030881 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042608 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0062061 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042610 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 23566939,25631937,3309677,7694806,8805302,8906788 | 22658674 | 10435578,8906788,8955188 | 10435578,1402688,17189421,20364150,22031944,23566939,24643698,25631937,7504010,7694806,8805302,8839770,8906788,8955188,9177355 | 8630735 | 8617941,8805302 | 2784196 | 19124746 | 12414957,20946353,23401559,26869717,9177355 http://nanbyodata.jp/ontology/NANDO_2201006 NANDO:2201006 小児慢性特定疾病 Specific pediatric chronic disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/3106 3106 HLA-B signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949 http://nanbyodata.jp/ontology/NANDO_2201006 NANDO:2201006 小児慢性特定疾病 Specific pediatric chronic disease スティーヴンス・ジョンソン症候群 Stevens-Johnson syndrome MONDO:0018229 exactMatch http://glycosmos.org/glycogene/5604 5604 MAP2K1 protein serine/threonine/tyrosine kinase activity | MAP-kinase scaffold activity | protein kinase activator activity | protein serine/threonine kinase activator activity | protein tyrosine kinase activity | protein serine kinase activity | scaffold protein binding | protein binding | protein serine/threonine kinase activity | ATP binding | protein kinase activity | JUN kinase kinase activity | MAP kinase kinase activity http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0008545 | http://purl.obolibrary.org/obo/GO_0004708 19565474 | 29433126 | 10644344 | 8388392 | | | 10409742 | 15299019,17110930,17255949,17724343,17979178,18329369,19197339,20179161,20554783,20679487,21441104,22572157,22752157,23241949,23934108,24211253,24746704,25155755,25416956,25437913,25600339,26496610,29433126,31980649,32296183,32707033,32721402,33961781,34779126,35271311 | | | 10570282 | | 28166211,8388392 http://nanbyodata.jp/ontology/NANDO_2200967 NANDO:2200967 小児慢性特定疾病 Specific pediatric chronic disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/5605 5605 MAP2K2 metal ion binding | protein binding | ATP binding | JUN kinase kinase activity | MAP-kinase scaffold activity | MAP kinase kinase activity | protein serine/threonine kinase activator activity | protein serine kinase activity | PDZ domain binding | protein serine/threonine/tyrosine kinase activity | protein tyrosine kinase activity | scaffold protein binding | protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008545 | http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0004708 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0004674 | 11909642,17979178,21615688,21988832,24746704,25416956,25600339,25852190,27086506,28514442,29433126,31980649,32296183,32707033,32814053,33961781,35271311 | | | 29433126 | 8388392 | 8388392 | | 21615688 | 19565474 | | 10409742,21615688 | http://nanbyodata.jp/ontology/NANDO_2200967 NANDO:2200967 小児慢性特定疾病 Specific pediatric chronic disease CFC症候群 CFC Syndrome MONDO:0015280 exactMatch http://glycosmos.org/glycogene/931 931 MS4A1 identical protein binding | protein binding | MHC class II protein complex binding | immunoglobulin binding | epidermal growth factor receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0019865 | http://purl.obolibrary.org/obo/GO_0005154 32792392 | 25416956,32296183 | 20458337 | 18474602 | http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/5073 5073 PARN poly(A)-specific ribonuclease activity | mRNA 3'-UTR binding | cation binding | protein binding | nuclease activity | RNA binding | telomerase RNA binding | protein kinase binding | metal ion binding | 3'-5'-RNA exonuclease activity http://purl.obolibrary.org/obo/GO_0004535 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004518 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000175 25049417,26482878,26950371 | 9736620 | 15358788 | 14731398,20379136,21876179 | 9736620 | 22658674 | 26482878,26950371 | 20932473 | | http://nanbyodata.jp/ontology/NANDO_2200715 NANDO:2200715 小児慢性特定疾病 Specific pediatric chronic disease 先天性角化異常症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/5277 5277 PIGA UDP-glycosyltransferase activity | protein binding | phosphatidylinositol N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0008194 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017176 | 10944123,16162815,33961781,8900170,9463366 | 16162815 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200823 NANDO:2200823 小児慢性特定疾病 Specific pediatric chronic disease 巨脳症－毛細血管奇形症候群 Megalencephaly-capillary malformation syndrome MONDO:0011240 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201394 NANDO:2201394 小児慢性特定疾病 Specific pediatric chronic disease 片側巨脳症 Hemimegaloencephaly MONDO:0020492 exactMatch http://glycosmos.org/glycogene/5314 5314 PKHD1 protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 16243292,18235088,20048263,20709014 | 11919560 http://nanbyodata.jp/ontology/NANDO_2200934 NANDO:2200934 小児慢性特定疾病 Specific pediatric chronic disease 先天性多発肝内胆管拡張症 Caroli disease MONDO:0010913 closeMatch http://glycosmos.org/glycogene/5406 5406 PNLIP triglyceride lipase activity | metal ion binding | phospholipase A1 activity | lipase activity | lipoprotein lipase activity | all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity http://purl.obolibrary.org/obo/GO_0004806 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008970 | http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004465 | http://purl.obolibrary.org/obo/GO_0047376 | | | 25862608 | | http://nanbyodata.jp/ontology/NANDO_2200912 NANDO:2200912 小児慢性特定疾病 Specific pediatric chronic disease リパーゼ欠損症 Lipase deficiency MONDO:0013700 exactMatch http://glycosmos.org/glycogene/5624 5624 PROC calcium ion binding | protein binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | 15248212,32296183 | 15005336,25748729 http://nanbyodata.jp/ontology/NANDO_2200689 NANDO:2200689 小児慢性特定疾病 Specific pediatric chronic disease 先天性プロテインC欠乏症 Protein C deficiency MONDO:0019145 exactMatch http://glycosmos.org/glycogene/5728 5728 PTEN lipid binding | RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity | molecular function inhibitor activity | RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity | calmodulin-dependent protein phosphatase activity | ubiquitin ligase activator activity | RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity | phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity | myosin phosphatase activity | protein tyrosine phosphatase activity, metal-dependent | MAP kinase serine/threonine phosphatase activity | ubiquitin-specific protease binding | phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity | beta-catenin binding | phosphatidylinositol-3-phosphate phosphatase activity | protein serine/threonine phosphatase activity | histone H2AXY142 phosphatase activity | enzyme binding | identical protein binding | phosphatidylinositol phosphate phosphatase activity | inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | PDZ domain binding | protein binding | RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity | histone H2AXS140 phosphatase activity | RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity | inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity | phosphoprotein phosphatase activity | protein tyrosine phosphatase activity | anaphase-promoting complex binding http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0180007 | http://purl.obolibrary.org/obo/GO_0140678 | http://purl.obolibrary.org/obo/GO_0180006 | http://purl.obolibrary.org/obo/GO_0033192 | http://purl.obolibrary.org/obo/GO_1990757 | http://purl.obolibrary.org/obo/GO_0180008 | http://purl.obolibrary.org/obo/GO_0016314 | http://purl.obolibrary.org/obo/GO_0017018 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_1990439 | http://purl.obolibrary.org/obo/GO_1990381 | http://purl.obolibrary.org/obo/GO_0051800 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0004438 | http://purl.obolibrary.org/obo/GO_0004722 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0052866 | http://purl.obolibrary.org/obo/GO_0030351 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0180005 | http://purl.obolibrary.org/obo/GO_0140791 | http://purl.obolibrary.org/obo/GO_0180004 | http://purl.obolibrary.org/obo/GO_0051717 | http://purl.obolibrary.org/obo/GO_0004721 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0010997 | | 23744781 | | | 21241890 | | 9593664,9811831 | | | | 26280536 | 20123964,9811831 | 20123964 | 9811831 | 9256433 | | 16845383 | 24766807,26299948 | 9811831 | 11418101 | | 10646847,10760291 | 15355975,15951562,16456542,17242191,17274640,18716620,19345329,19369943,19473982,19903340,21241890,21593423,21653829,21804599,23514585,23940795,24012959,24656772,25007873,25241761,26280536,36950384 | | | | 9593664 | 21241890 | 9256433 | 21241890 http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200945 NANDO:2200945 小児慢性特定疾病 Specific pediatric chronic disease ヒルシュスプルング病 Hirschsprung disease MONDO:0018309 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200948 NANDO:2200948 小児慢性特定疾病 Specific pediatric chronic disease 腸管神経節細胞僅少症 Congenital Isolated Hypoganglionosis MONDO:0018309 closeMatch http://glycosmos.org/glycogene/6197 6197 RPS6KA3 histone H2BS36 kinase activity | histone H2AXS139 kinase activity | histone H3T45 kinase activity | histone H3S10 kinase activity | magnesium ion binding | histone H4S1 kinase activity | protein serine/threonine kinase activity | histone H3T3 kinase activity | histone H3T6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | AMP-activated protein kinase activity | ribosomal protein S6 kinase activity | protein kinase activity | histone H2BS14 kinase activity | ATP binding | histone H2AS1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H2AT120 kinase activity | histone H3T11 kinase activity | cysteine-type endopeptidase inhibitor activity involved in apoptotic process | protein serine kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S28 kinase activity | histone H2AS121 kinase activity | protein kinase binding http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0043027 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0019901 | | | | | | | | | | | | 10094392,21988832,22939624,23602568,25241761,25513777,28514442,31980649,32707033,32814053,33961781,34591642,35271311 | | | 10436156 | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200952 NANDO:2200952 小児慢性特定疾病 Specific pediatric chronic disease コフィン・ローリー症候群 Coffin-Lowry syndrome MONDO:0010561 exactMatch http://glycosmos.org/glycogene/6239 6239 RREB1 zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | metal ion binding | DNA-binding transcription activator activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001228 | 20133935 | 8816445 | | 8816445 http://nanbyodata.jp/ontology/NANDO_2200712 NANDO:2200712 小児慢性特定疾病 Specific pediatric chronic disease 胸腺低形成 Thymus hypoplasia MONDO:0018923 closeMatch http://glycosmos.org/glycogene/6323 6323 SCN1A voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005248 22150645 | 10742094,14672992 http://nanbyodata.jp/ontology/NANDO_2200879 NANDO:2200879 小児慢性特定疾病 Specific pediatric chronic disease レノックス・ガストー症候群 Lennox-Gastaut syndrome MONDO:0016532 exactMatch http://glycosmos.org/glycogene/6323 6323 SCN1A voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005248 22150645 | 10742094,14672992 http://nanbyodata.jp/ontology/NANDO_2201408 NANDO:2201408 小児慢性特定疾病 Specific pediatric chronic disease 遊走性焦点発作を伴う乳児てんかん Epilepsy of infancy with migrating focal seizures MONDO:0017385 exactMatch http://glycosmos.org/glycogene/6326 6326 SCN2A calmodulin binding | protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 25232683 | 36950384 | 1325650,17021166,28256214,29844171 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6390 6390 SDHB metal ion binding | protein binding | 2 iron, 2 sulfur cluster binding | 4 iron, 4 sulfur cluster binding | ubiquinone binding | succinate dehydrogenase (ubiquinone) activity | electron transfer activity | 3 iron, 4 sulfur cluster binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051537 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0048039 | http://purl.obolibrary.org/obo/GO_0008177 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0051538 | 15961414,19688755,24606901,26749241,28380382,28514442,33961781 | | | | 26925370,27604842 | | http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/6391 6391 SDHC electron transfer activity | metal ion binding | heme binding | protein binding http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005515 | | | 32814053 http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/6392 6392 SDHD succinate dehydrogenase (ubiquinone) activity | electron transfer activity | heme binding | protein binding | ubiquinone binding | metal ion binding http://purl.obolibrary.org/obo/GO_0008177 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048039 | http://purl.obolibrary.org/obo/GO_0046872 | 9533030 | | 32296183 | | http://nanbyodata.jp/ontology/NANDO_2200918 NANDO:2200918 小児慢性特定疾病 Specific pediatric chronic disease カウデン症候群 Cowden syndrome MONDO:0016063 exactMatch http://glycosmos.org/glycogene/6469 6469 SHH morphogen activity | cholesterol-protein transferase activity | calcium ion binding | zinc ion binding | patched binding | glycosaminoglycan binding | peptidase activity | protein binding | laminin-1 binding | endopeptidase activity http://purl.obolibrary.org/obo/GO_0016015 | http://purl.obolibrary.org/obo/GO_0140853 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005113 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043237 | http://purl.obolibrary.org/obo/GO_0004175 24431302,8647801 | | 19561609 | 19561609 | 11472839,8906787 | | | 19561609,29954986,29995851,30139912 | | http://nanbyodata.jp/ontology/NANDO_2200818 NANDO:2200818 小児慢性特定疾病 Specific pediatric chronic disease 裂脳症 Schizencephaly MONDO:0010011 exactMatch http://glycosmos.org/glycogene/6487 6487 ST3GAL3 sialyltransferase activity | beta-galactoside (CMP) alpha-2,3-sialyltransferase activity | protein binding | N-acetyllactosaminide alpha-2,3-sialyltransferase activity http://purl.obolibrary.org/obo/GO_0008373 | http://purl.obolibrary.org/obo/GO_0003836 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008118 | | 32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/6495 6495 SIX1 sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding | DNA-binding transcription factor activity | transcription coactivator binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 28473536 | | 19497856 | 15141091 | | 19497856 | | 16670092 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 15141091 | 15141091 http://nanbyodata.jp/ontology/NANDO_2201391 NANDO:2201391 小児慢性特定疾病 Specific pediatric chronic disease 鰓耳腎症候群 Branchio-oto-renal syndrome MONDO:0018878 closeMatch http://glycosmos.org/glycogene/6507 6507 SLC1A3 metal ion binding | L-glutamate transmembrane transporter activity | glutamate:sodium symporter activity | neutral L-amino acid transmembrane transporter activity | high-affinity L-glutamate transmembrane transporter activity | protein binding | glutamate binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005313 | http://purl.obolibrary.org/obo/GO_0015501 | http://purl.obolibrary.org/obo/GO_0015175 | http://purl.obolibrary.org/obo/GO_0005314 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016595 | 7521911 | 20477940,8123008 | | 26690923,28032905,8123008 | 32296183 | http://nanbyodata.jp/ontology/NANDO_2200883 NANDO:2200883 小児慢性特定疾病 Specific pediatric chronic disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/6578 6578 SLCO2A1 prostaglandin transmembrane transporter activity | lipid transporter activity | sodium-independent organic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015132 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0015347 | 8787677 | http://nanbyodata.jp/ontology/NANDO_2200925 NANDO:2200925 小児慢性特定疾病 Specific pediatric chronic disease 非特異性多発性小腸潰瘍症 Chronic nonspecific multiple ulcers of the small intestine MONDO:0018766 exactMatch http://glycosmos.org/glycogene/6578 6578 SLCO2A1 prostaglandin transmembrane transporter activity | lipid transporter activity | sodium-independent organic anion transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015132 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0015347 | 8787677 | http://nanbyodata.jp/ontology/NANDO_2201004 NANDO:2201004 小児慢性特定疾病 Specific pediatric chronic disease 肥厚性皮膚骨膜症 Pachydermoperiostosis MONDO:0016620 exactMatch http://glycosmos.org/glycogene/6523 6523 SLC5A1 glucose transmembrane transporter activity | galactose transmembrane transporter activity | D-glucose transmembrane transporter activity | alpha-glucoside transmembrane transporter activity | protein binding | galactose:sodium symporter activity | myo-inositol:sodium symporter activity | pentose transmembrane transporter activity | fucose transmembrane transporter activity | water transmembrane transporter activity | glucose:sodium symporter activity http://purl.obolibrary.org/obo/GO_0005355 | http://purl.obolibrary.org/obo/GO_0005354 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0015151 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015371 | http://purl.obolibrary.org/obo/GO_0005367 | http://purl.obolibrary.org/obo/GO_0015146 | http://purl.obolibrary.org/obo/GO_0015150 | http://purl.obolibrary.org/obo/GO_0005372 | http://purl.obolibrary.org/obo/GO_0005412 | | 20980548,26945065 | 17130520,20980548 | 18455122 | 34880492,35077764 | | | | 14695256,26945065,34880492 | 20980548,34880492,35077764,8563765,8836035 http://nanbyodata.jp/ontology/NANDO_2200909 NANDO:2200909 小児慢性特定疾病 Specific pediatric chronic disease 先天性グルコース・ガラクトース吸収不良症 Glucose-galactose malabsorption MONDO:0011731 exactMatch http://glycosmos.org/glycogene/6597 6597 SMARCA4 p53 binding | histone binding | RNA binding | protein binding | RNA polymerase I core promoter sequence-specific DNA binding | helicase activity | nucleosomal DNA binding | chromatin binding | transcription coactivator activity | ATP-dependent chromatin remodeler activity | transcription coregulator binding | ATP-dependent activity, acting on DNA | Tat protein binding | ATP binding | DNA polymerase binding | nucleosome array spacer activity | transcription corepressor activity | nuclear androgen receptor binding | hydrolase activity | DNA binding http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140658 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0070182 | http://purl.obolibrary.org/obo/GO_0140750 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0003677 11950834 | | | 10078207,11726552,11780067,11988099,12065415,12192000,12200431,12368262,12917342,15985610,16051670,16687403,17984088,18303029,19149898,19571879,20224553,20418909,22140357,23022380,23540691,24434208,24550003,24981860,28420882,28514442,28649782,30108113,31759698,32459350,33961781,34591612,35271311,36950384 | 22368283 | | 16217013 | | 15774904,16687403,8804307 | 34910916 | 14701856,22368283 | 8232556 | 16687403 | | 19571879 | | 18487222,20418909 | 18487222 | | http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6598 6598 SMARCB1 DNA binding | identical protein binding | protein binding | transcription coactivator activity | RNA polymerase I core promoter sequence-specific DNA binding | p53 binding | nucleosomal DNA binding | Tat protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0030957 26073604 | 27229929,30108113 | 10078207,10365963,12368262,14963118,15985610,16601680,16687403,20111005,21900206,22368283,23540691,24874740,24981860,27229929,28514442,30108113,31759698,32296183,32814053,33961781,34591612,35271311 | 16687403 | 22368283 | 11950834 | 16217013 | 16687403 http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6601 6601 SMARCC2 histone binding | nucleosomal DNA binding | protein binding | transcription coactivator activity http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | 16217013 | 12192000,12917342,20130577,21044950,21653829,28514442,28533407,32296183,32814053,33961781,34591612,35271311,36950384 | 8804307 http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6602 6602 SMARCD1 molecular adaptor activity | signaling receptor binding | transcription coactivator activity | protein binding | transcription coregulator activity | chromatin binding http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0003682 12917342 | | 8804307 | 12917342,15985610,16189514,18303029,21516116,21988832,24421395,24434208,24981860,25416956,31515488,32296183,32459350,32814053,33961781,34591612,35271311 | | http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/6605 6605 SMARCE1 nuclear receptor binding | chromatin binding | nucleosomal DNA binding | transcription coactivator activity | DNA binding | N-acetyltransferase activity | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 17363140 | 9435219 | 16217013 | 8804307 | | 12192000 | 12192000,12917342,15985610,16051670,16919237,17363140,21516116,24981860,25416956,28514442,31515488,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/8289 8289 ARID1A nuclear receptor binding | nucleosome binding | protein binding | DNA binding | transcription coactivator activity http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0031491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003713 17363140 | | 11780067,11988099,12200431,12368262,15985610,17363140,19486893,23540691,23698369,30021884,31759698,34591612,35271311,36931659 | 10757798,23129809 | 12200431,8804307 http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/8243 8243 SMC1A chromatin binding | ATP hydrolysis activity | protein binding | protein heterodimerization activity | mediator complex binding | DNA binding | ATP binding | RNA binding http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003723 11076961 | | 11076961,11590136,11877377,12930902,15837422,16438930,17112726,17113138,17349791,18832153,19629043,20818333,22628566,22885700,22977523,23242214,24136289,24981860,26496610,28514442,29263825,29867216,30021884,32296183,33961781,35271311,9789013 | 11590136 | | | | 22681889 http://nanbyodata.jp/ontology/NANDO_2200958 NANDO:2200958 小児慢性特定疾病 Specific pediatric chronic disease コルネリア・デランゲ症候群 Cornelia de Lange syndrome MONDO:0016033 exactMatch http://glycosmos.org/glycogene/6709 6709 SPTAN1 cadherin binding | calcium ion binding | actin filament binding | structural constituent of cytoskeleton | protein binding | calmodulin binding | actin binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0003779 25468996 | | | 2307671 | 12571280,12820899,15328537,16336193,17043677,19102630,20706999,29961565,30021884,31413325,35271311 | | 2307671 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/8742 8742 TNFSF12 tumor necrosis factor receptor binding | receptor ligand activity | signaling receptor binding | protein binding | cytokine activity http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | | 9560343 | 14961121,23438059,29657270,32296183,32814053 | 21525013 http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/8565 8565 YARS1 tRNA binding | protein binding | interleukin-8 receptor binding | small molecule binding | ATP binding | RNA binding | tyrosine-tRNA ligase activity http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005153 | http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004831 | 24965446,25533949,32814053 | 10102815 | 25533949 | | 22658674 | 22291016,25533949 http://nanbyodata.jp/ontology/NANDO_2200855 NANDO:2200855 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性運動感覚ニューロパチー Hereditary Motor and Sensory Neuropathy MONDO:0015626 closeMatch http://glycosmos.org/glycogene/64324 64324 NSD1 histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear retinoic acid receptor binding | nuclear retinoid X receptor binding | histone H3K36 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K36 dimethyltransferase activity | nuclear thyroid hormone receptor binding | histone H3 methyltransferase activity | protein binding | transcription coregulator activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0042799 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496 http://nanbyodata.jp/ontology/NANDO_2200953 NANDO:2200953 小児慢性特定疾病 Specific pediatric chronic disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/64324 64324 NSD1 histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear retinoic acid receptor binding | nuclear retinoid X receptor binding | histone H3K36 methyltransferase activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K36 dimethyltransferase activity | nuclear thyroid hormone receptor binding | histone H3 methyltransferase activity | protein binding | transcription coregulator activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0042799 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0046975 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140954 | http://purl.obolibrary.org/obo/GO_0046966 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0008270 | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496 http://nanbyodata.jp/ontology/NANDO_2200957 NANDO:2200957 小児慢性特定疾病 Specific pediatric chronic disease ウィーバー症候群 Weaver syndrome MONDO:0010193 exactMatch http://glycosmos.org/glycogene/8573 8573 CASK histone H2AXS139 kinase activity | histone H3S28 kinase activity | Rho-dependent protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T45 kinase activity | histone H3S10 kinase activity | calmodulin binding | AMP-activated protein kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS36 kinase activity | ATP binding | histone H2AT120 kinase activity | histone H3T6 kinase activity | histone H2AS1 kinase activity | protein binding | histone H2AS121 kinase activity | guanylate kinase activity | protein serine kinase activity | ribosomal protein S6 kinase activity | histone H4S1 kinase activity | neurexin family protein binding | protein serine/threonine kinase activity | signaling receptor binding | histone H3T11 kinase activity | histone H2BS14 kinase activity | DNA-dependent protein kinase activity | histone H3S57 kinase activity | histone H3T3 kinase activity http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004385 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0042043 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0072354 | | | | | | | | | | | | | | 11377421,15694377,16688213,18423203,21763699,22153505,24366813,25416956,25852190,29892012,32296183,32707033,33961781,35914814,36012204,39009827,9660868 | | 9660868 | | | | | 18423203 | | | | | | http://nanbyodata.jp/ontology/NANDO_2201393 NANDO:2201393 小児慢性特定疾病 Specific pediatric chronic disease ＣＡＳＫ異常症 CASK abnormality MONDO:0010417 exactMatch http://glycosmos.org/glycogene/196528 196528 ARID2 zinc ion binding | metal ion binding | protein binding | DNA binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | | 15985610,22140357,24981860,30108113,31759698,33961781,34591612,35271311 | http://nanbyodata.jp/ontology/NANDO_2200977 NANDO:2200977 小児慢性特定疾病 Specific pediatric chronic disease コフィン・シリス症候群 Coffin-Siris syndrome MONDO:0015452 exactMatch http://glycosmos.org/glycogene/170302 170302 ARX RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536 http://nanbyodata.jp/ontology/NANDO_2200878 NANDO:2200878 小児慢性特定疾病 Specific pediatric chronic disease 点頭てんかん West syndrome MONDO:0018097 exactMatch http://glycosmos.org/glycogene/29072 29072 SETD2 metal ion binding | protein-lysine N-methyltransferase activity | alpha-tubulin binding | protein binding | histone H3 methyltransferase activity | histone H3K36 trimethyltransferase activity | histone H3K36 methyltransferase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016279 | http://purl.obolibrary.org/obo/GO_0043014 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0140955 | http://purl.obolibrary.org/obo/GO_0046975 | 28753426 | 27518565 | 17500595,19141475,21988832,28753426,36537238 | | | 19141475,23043551,23325844,23622243,24843002,26002201,27474439,28753426 http://nanbyodata.jp/ontology/NANDO_2200953 NANDO:2200953 小児慢性特定疾病 Specific pediatric chronic disease ソトス症候群 Sotos syndrome MONDO:0019349 exactMatch http://glycosmos.org/glycogene/29851 29851 ICOS protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 11956294,16951355,18641334,27135603 | 33033255 http://nanbyodata.jp/ontology/NANDO_2200717 NANDO:2200717 小児慢性特定疾病 Specific pediatric chronic disease 分類不能型免疫不全症 Common variable immunodeficiency MONDO:0015517 exactMatch http://glycosmos.org/glycogene/8425 8425 LTBP4 extracellular matrix structural constituent | transforming growth factor beta binding | calcium ion binding | integrin binding | protein binding | glycosaminoglycan binding | transforming growth factor beta receptor activity http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0005024 20551380,25037231,27559042,28675934 | 10930463,9660815 | 9660815 | 9660815 | 12429738,19349279,21078624,27339457 | 9660815 | 9660815 http://nanbyodata.jp/ontology/NANDO_2200856 NANDO:2200856 小児慢性特定疾病 Specific pediatric chronic disease デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy MONDO:0010679 exactMatch http://glycosmos.org/glycogene/4089 4089 SMAD4 DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein binding | transcription cis-regulatory region binding | transcription coactivator binding | DNA-binding transcription factor activity | sulfate binding | DNA-binding transcription activator activity, RNA polymerase II-specific | collagen binding | R-SMAD binding | DNA binding | sequence-specific DNA binding | I-SMAD binding | filamin binding | transcription corepressor binding | chromatin binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0031005 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | 8774881 | | 10647180,21988832,25609649,9111321 | 17438144 | 16777850 | 10823886,17438144 | 10647180 | 18832382,9389648 | | 8774881,9111321,9311995,9732876 | 9389648 | 10823886 | 9256479 | | 14612439 | | | 11278302,11779503,11779505,12419246,14525983,14671321,15084259,15231748,15350224,15881652,16189514,16865698,17099224,17183365,17469184,18511908,18568018,18729074,18832382,19032343,19135894,20211142,20603019,21297662,21532621,21597466,21988832,22045334,22442258,23201680,23602568,24412244,25310401,25416956,25502805,25514493,25609649,25910212,26878725,26977879,27107012,29892012,29997244,31467278,31515488,32296183,32814053,33961781,39243984,9389648,9436979,9707553 | 18832382,31582430,9389648 http://nanbyodata.jp/ontology/NANDO_2200916 NANDO:2200916 小児慢性特定疾病 Specific pediatric chronic disease 若年性ポリポーシス Juvenile polyposis MONDO:0017380 exactMatch http://glycosmos.org/glycogene/4089 4089 SMAD4 DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein binding | transcription cis-regulatory region binding | transcription coactivator binding | DNA-binding transcription factor activity | sulfate binding | DNA-binding transcription activator activity, RNA polymerase II-specific | collagen binding | R-SMAD binding | DNA binding | sequence-specific DNA binding | I-SMAD binding | filamin binding | transcription corepressor binding | chromatin binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0031005 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | 8774881 | | 10647180,21988832,25609649,9111321 | 17438144 | 16777850 | 10823886,17438144 | 10647180 | 18832382,9389648 | | 8774881,9111321,9311995,9732876 | 9389648 | 10823886 | 9256479 | | 14612439 | | | 11278302,11779503,11779505,12419246,14525983,14671321,15084259,15231748,15350224,15881652,16189514,16865698,17099224,17183365,17469184,18511908,18568018,18729074,18832382,19032343,19135894,20211142,20603019,21297662,21532621,21597466,21988832,22045334,22442258,23201680,23602568,24412244,25310401,25416956,25502805,25514493,25609649,25910212,26878725,26977879,27107012,29892012,29997244,31467278,31515488,32296183,32814053,33961781,39243984,9389648,9436979,9707553 | 18832382,31582430,9389648 http://nanbyodata.jp/ontology/NANDO_2201034 NANDO:2201034 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性出血性末梢血管拡張症 Hereditary hemorrhagic telangiectasia MONDO:0019180 exactMatch http://glycosmos.org/glycogene/8085 8085 KMT2D histone H3K4 monomethyltransferase activity | metal ion binding | transcription cis-regulatory region binding | histone H3K4 methyltransferase activity | transcription coactivator activity | zinc ion binding | protein binding | histone H3K4 trimethyltransferase activity | DNA binding http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0003677 | | 16603732 | | | | 15960975,16603732,17178841,17500065,22266653,22665483,22722839,24981860,26886794,27705803,33640491,33961781,37725512,39009827 | | 9247308 http://nanbyodata.jp/ontology/NANDO_2200956 NANDO:2200956 小児慢性特定疾病 Specific pediatric chronic disease 歌舞伎症候群 Kabuki syndrome MONDO:0016512 exactMatch http://glycosmos.org/glycogene/477 477 ATP1A2 steroid binding | protein binding | ATPase-coupled monoatomic cation transmembrane transporter activity | sodium ion binding | phosphatase activity | potassium ion binding | P-type sodium:potassium-exchanging transporter activity | protein heterodimerization activity | protein-folding chaperone binding | ATP binding | steroid hormone binding | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0031402 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0005391 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990239 | http://purl.obolibrary.org/obo/GO_0016887 23954377 | 23954377 | 19372756,20100892 | 23954377 | | 23954377 | 10636900,12539047,18052210,18728015,20100892,23954377 | | 10636900 | 23954377 | 14742675 | 23954377 http://nanbyodata.jp/ontology/NANDO_2200883 NANDO:2200883 小児慢性特定疾病 Specific pediatric chronic disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/546 546 ATRX DNA clamp loader activity | chromatin extrusion motor activity | zinc ion binding | chromatin DNA binding | DNA translocase activity | metal ion binding | single-stranded 3'-5' DNA helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP-dependent H2AZ histone chaperone activity | methylated histone binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | histone binding | ATP hydrolysis activity | chromatin binding | cohesin loader activity | chromo shadow domain binding | double-stranded DNA helicase activity | ATP binding http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0015616 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_1990518 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0035064 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0005524 | | | | 12953102 | | | | | 21421568 | | | 10699177,12953102,17296936,22102817,22391447,24651726,24981860,25417162,26373281,26496610,27029610,33961781 | 20211137,22391447 | | 27029610 | | 15882967 | | http://nanbyodata.jp/ontology/NANDO_2200839 NANDO:2200839 小児慢性特定疾病 Specific pediatric chronic disease ATR-X症候群 ATR-X syndrome MONDO:0010519 exactMatch http://glycosmos.org/glycogene/567 567 B2M identical protein binding | MHC class II protein complex binding | peptide antigen binding | structural molecule activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 17108084,18579777,19172750,19564620,20826442,21131979,21220305,21569201,22289140,22575645 | | | 36104323 | 12118248,12833155,14764708,15723809,15965644,18802093,20164429,20618438,23051753,23527218,26030842,27043408,28514442,32814053,33961781,9427624,9465039,9546397,9990067 | 28468825 http://nanbyodata.jp/ontology/NANDO_2200701 NANDO:2200701 小児慢性特定疾病 Specific pediatric chronic disease MHCクラスI欠損症 MHC class I deficiency MONDO:0011476 exactMatch http://glycosmos.org/glycogene/63982 63982 ANO3 protein dimerization activity | chloride channel activity | intracellular calcium activated chloride channel activity | phospholipid scramblase activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005229 | http://purl.obolibrary.org/obo/GO_0017128 | | 21984732 | http://nanbyodata.jp/ontology/NANDO_1201143 NANDO:1201143 指定難病 Designated intractable disease DYT24 ジストニア DYT24 Dystonia MONDO:0014019 exactMatch http://glycosmos.org/glycogene/1293 1293 COL6A3 serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020 | 20551380,25037231,27559042,28327460,28675934 http://nanbyodata.jp/ontology/NANDO_1201146 NANDO:1201146 指定難病 Designated intractable disease DYT27 ジストニア DYT27 Dystonia MONDO:0014627 exactMatch http://glycosmos.org/glycogene/340061 340061 STING1 protein kinase binding | cyclic-di-GMP binding | ubiquitin protein ligase binding | RNA polymerase II-specific DNA-binding transcription factor binding | 2',3'-cyclic GMP-AMP binding | identical protein binding | protein homodimerization activity | signaling adaptor activity | protein binding | proton channel activity http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035438 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0061507 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015252 18818105,21074459 | 22705373,29694889 | | 18818105 | 23747010,26669264,30842659,30842662,35388221,37403426 | 19433799,22312431,22728658,22728659,22728660,23542348,30405246,30842659 | 19433799,21074459,22705373 | 23747010,25636800,37832545 | 18724357,18818105,19416887,19433799,20080758,20628368,20890285,21903422,22000020,22312431,22908223,22911572,23542348,24560620,24622840,25299331,26405230,27302953,29251827,29429998,30104205,30842662,32296183,35013224 | 37535724 http://nanbyodata.jp/ontology/NANDO_2201487 NANDO:2201487 小児慢性特定疾病 Specific pediatric chronic disease 乳児発症ＳＴＩＮＧ関連血管炎 STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy MONDO:0014405 exactMatch http://glycosmos.org/glycogene/3736 3736 KCNA1 disordered domain specific binding | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential | voltage-gated potassium channel activity | delayed rectifier potassium channel activity | protein binding | voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_0099508 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905030 10585425 | | 10585425,19912772 | 19912772,8845167 | 11937501,19968958,23903368,32296183 | http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6792 6792 CDKL5 cyclin-dependent protein serine/threonine kinase activity | protein serine/threonine kinase activity | protein serine kinase activity | protein binding | small GTPase binding | kinase activity | ATP binding | protein kinase activity http://purl.obolibrary.org/obo/GO_0004693 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6812 6812 STXBP1 protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0017075 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043274 | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6949 6949 TCOF1 protein heterodimerization activity | scaffold protein binding | protein binding | RNA binding | protein-macromolecule adaptor activity http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0030674 26399832 | 23203802 | 17620599,23602568,25064736,26399832,32707033,32814053,36411431 | 22658674,22681889 | 26399832 http://nanbyodata.jp/ontology/NANDO_2201526 NANDO:2201526 小児慢性特定疾病 Specific pediatric chronic disease トリーチャーコリンズ症候群 Treacher Collins syndrome MONDO:0002457 exactMatch http://glycosmos.org/glycogene/23312 23312 DMXL2 small GTPase binding http://purl.obolibrary.org/obo/GO_0031267 11809763 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/23400 23400 ATP13A2 ATPase-coupled monoatomic cation transmembrane transporter activity | P-type ion transporter activity | phosphatidic acid binding | ATP hydrolysis activity | phosphatidylinositol-3,5-bisphosphate binding | polyamine transmembrane transporter activity | cupric ion binding | ABC-type polyamine transporter activity | ATP binding | protein binding | zinc ion binding | manganese ion binding http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0015662 | http://purl.obolibrary.org/obo/GO_0070300 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0080025 | http://purl.obolibrary.org/obo/GO_0015203 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0015417 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0030145 | | 26134396 | 24252804 | 26134396 | 31996848 | 23202360 | | | 22645275,27278822 | 22361905,23202360 | 22361905,23202360 http://nanbyodata.jp/ontology/NANDO_1201153 NANDO:1201153 指定難病 Designated intractable disease Kufor-Rakeb症候群 Kufor-Rakeb syndrome MONDO:0011706 exactMatch http://glycosmos.org/glycogene/2554 2554 GABRA1 benzodiazepine receptor activity | chloride channel activity | GABA-gated chloride ion channel activity | GABA receptor activity | transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | GABA-A receptor activity http://purl.obolibrary.org/obo/GO_0008503 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 | http://purl.obolibrary.org/obo/GO_0016917 | http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0004890 | | 23909897,2538761,30602789,9039914 | | | 23909897,30602789 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/2562 2562 GABRB3 identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030594 | http://purl.obolibrary.org/obo/GO_0004890 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0022851 16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/150094 150094 SIK1 histone H3T11 kinase activity | histone H3S28 kinase activity | protein serine kinase activity | protein kinase binding | histone H3T45 kinase activity | histone H2AS1 kinase activity | histone H3S10 kinase activity | 3-phosphoinositide-dependent protein kinase activity | ATP binding | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T6 kinase activity | magnesium ion binding | histone H4S1 kinase activity | histone H2AT120 kinase activity | histone deacetylase binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | cAMP response element binding protein binding | ribosomal protein S6 kinase activity | 14-3-3 protein binding | histone H2BS14 kinase activity | histone H3S57 kinase activity | DNA-dependent protein kinase activity | protein binding | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0008140 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004694 | | | 18348280 | | | | | 14976552 | | | | 14976552 | | | | | | | | 18348280 | | | | 16306228,32707033,36931259 | | 14976552,18348280 | | http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/9091 9091 PIGQ protein binding http://purl.obolibrary.org/obo/GO_0005515 10944123,16162815,33961781,9463366 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/9757 9757 KMT2B protein binding | histone H3K4 methyltransferase activity | histone H3K4 monomethyltransferase activity | zinc ion binding | histone H3K4 trimethyltransferase activity | unmethylated CpG binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0045322 17021013,17474147,18840606,19047629,19433796,22266653,22665483,23995757,24788516,24981860,26886794,27705803,28514442,33961781,37725512 | 17166833 | | 29276034 | | 29276034 http://nanbyodata.jp/ontology/NANDO_1201147 NANDO:1201147 指定難病 Designated intractable disease DYT28 ジストニア DYT28 Dystonia MONDO:0015004 exactMatch http://glycosmos.org/glycogene/51102 51102 MECR "" "" "" http://nanbyodata.jp/ontology/NANDO_1201148 NANDO:1201148 指定難病 Designated intractable disease DYT29 ジストニア DYT29 Dystonia MONDO:0015003 exactMatch http://glycosmos.org/glycogene/6324 6324 SCN1B sodium channel inhibitor activity | sodium channel regulator activity | protein binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0019871 | http://purl.obolibrary.org/obo/GO_0017080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 17884088 | 14622265,18464934,19710327,19808477,36696443,8125980 | 26900580,30190309 | http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/6326 6326 SCN2A calmodulin binding | protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 25232683 | 36950384 | 1325650,17021166,28256214,29844171 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/8573 8573 CASK histone H2AXS139 kinase activity | histone H3S28 kinase activity | Rho-dependent protein serine/threonine kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3T45 kinase activity | histone H3S10 kinase activity | calmodulin binding | AMP-activated protein kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS36 kinase activity | ATP binding | histone H2AT120 kinase activity | histone H3T6 kinase activity | histone H2AS1 kinase activity | protein binding | histone H2AS121 kinase activity | guanylate kinase activity | protein serine kinase activity | ribosomal protein S6 kinase activity | histone H4S1 kinase activity | neurexin family protein binding | protein serine/threonine kinase activity | signaling receptor binding | histone H3T11 kinase activity | histone H2BS14 kinase activity | DNA-dependent protein kinase activity | histone H3S57 kinase activity | histone H3T3 kinase activity http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0004385 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0042043 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0072354 | | | | | | | | | | | | | | 11377421,15694377,16688213,18423203,21763699,22153505,24366813,25416956,25852190,29892012,32296183,32707033,33961781,35914814,36012204,39009827,9660868 | | 9660868 | | | | | 18423203 | | | | | | http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/170302 170302 ARX RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/27245 27245 AHDC1 DNA-binding transcription factor activity | protein binding | promoter-enhancer loop anchoring activity http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140585 35585237 | 16713569,32814053 | 35585237 http://nanbyodata.jp/ontology/NANDO_2201524 NANDO:2201524 小児慢性特定疾病 Specific pediatric chronic disease シア・ギブス症候群 Xia-Gibbs syndrome MONDO:0014358 exactMatch http://glycosmos.org/glycogene/54551 54551 MAGEL2 protein binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004842 20864041,23452853,26365382,32296183 | 23452853 http://nanbyodata.jp/ontology/NANDO_2201525 NANDO:2201525 小児慢性特定疾病 Specific pediatric chronic disease シャーフ・ヤング症候群 Schaaf-Yang syndrome MONDO:0014243 exactMatch http://glycosmos.org/glycogene/51227 51227 PIGP phosphatidylinositol N-acetylglucosaminyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0017176 | http://purl.obolibrary.org/obo/GO_0005515 10944123 | 10944123,16162815,32296183,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2201398 NANDO:2201398 小児慢性特定疾病 Specific pediatric chronic disease 大田原症候群 Ohtahara syndrome MONDO:0100062 exactMatch http://glycosmos.org/glycogene/51 51 ACOX1 flavin adenine dinucleotide binding | PDZ domain binding | protein homodimerization activity | FAD binding | protein binding | palmitoyl-CoA oxidase activity | acyl-CoA oxidase activity | fatty acid binding http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0071949 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016401 | http://purl.obolibrary.org/obo/GO_0003997 | http://purl.obolibrary.org/obo/GO_0005504 | 23209302 | 32169171 | 17603022 | 18281296 | 17603022 | 17458872,18536048,32169171,7876265,8117268 | http://nanbyodata.jp/ontology/NANDO_1200765 NANDO:1200765 指定難病 Designated intractable disease アシル CoA オキシダーゼ欠損症 Peroxisomal acyl-CoA oxidase deficiency MONDO:0009919 exactMatch http://glycosmos.org/glycogene/153572 153572 IRX2 RNA polymerase II cis-regulatory region sequence-specific DNA binding | sequence-specific DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | 23332764 | 26560478 | | 32296183 http://nanbyodata.jp/ontology/NANDO_2200044 NANDO:2200044 小児慢性特定疾病 Specific pediatric chronic disease 腎明細胞肉腫 Clear cell sarcoma of the kidney MONDO:0005006 exactMatch http://glycosmos.org/glycogene/1131 1131 CHRM3 acetylcholine binding | signaling receptor activity | phosphatidylinositol phospholipase C activity | G protein-coupled acetylcholine receptor activity | G protein-coupled serotonin receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042166 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0016907 | http://purl.obolibrary.org/obo/GO_0004993 | http://purl.obolibrary.org/obo/GO_0005515 | 10940357 | 1905013 | | | 19575010,20398705,21056967 http://nanbyodata.jp/ontology/NANDO_2200185 NANDO:2200185 小児慢性特定疾病 Specific pediatric chronic disease Prune belly症候群 Prune belly syndrome MONDO:0007032 exactMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_1200084 NANDO:1200084 指定難病 Designated intractable disease 新生児型マルチプルスルファターゼ欠損症 Neonatal multiple sulfatase deficiency MONDO:0010088 closeMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_1200085 NANDO:1200085 指定難病 Designated intractable disease 乳幼児型マルチプルスルファターゼ欠損症 Late-infantile multiple sulfatase deficiency MONDO:0010088 closeMatch http://glycosmos.org/glycogene/1200 1200 TPP1 metal ion binding | protein binding | serine-type endopeptidase activity | peptide binding | peptidase activity | lysophosphatidic acid binding | tripeptidyl-peptidase activity | endopeptidase activity | sulfatide binding | serine-type peptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008236 | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422 http://nanbyodata.jp/ontology/NANDO_1200153 NANDO:1200153 指定難病 Designated intractable disease 遅発乳児型神経セロイドリポフスチン症 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 closeMatch http://glycosmos.org/glycogene/1308 1308 COL17A1 extracellular matrix structural constituent conferring tensile strength | protein binding | heparin binding http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28344315 | 12482924,32296183 | http://nanbyodata.jp/ontology/NANDO_1201066 NANDO:1201066 指定難病 Designated intractable disease 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/1499 1499 CTNNB1 nuclear receptor binding | protein phosphatase binding | histone methyltransferase binding | protein binding | signaling receptor binding | transmembrane transporter binding | transcription corepressor binding | protein kinase binding | cadherin binding | I-SMAD binding | alpha-catenin binding | SMAD binding | nuclear estrogen receptor binding | transcription coactivator activity | DNA-binding transcription factor binding | phosphatase binding | kinase binding | transcription coregulator binding | enzyme binding | chromatin binding | ubiquitin protein ligase binding | RNA polymerase II-specific DNA-binding transcription factor binding | disordered domain specific binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0097718 12799378,16344550 | | | 10706604,10725230,10773885,10825188,10987273,11401320,11533658,11590244,11713475,11713476,11790773,11955446,12297051,12370829,12408824,12421363,12734196,12820959,12927518,14595118,14600025,15110721,15327768,15327769,15843474,16204054,16212417,16376880,16424001,16442529,16569639,16574648,16630820,16724116,16753179,16858403,16890161,16968744,16983094,17047063,17052462,17057644,17098867,17220478,17237808,17242191,17283121,17289029,17318191,17500595,17510365,17513457,17517646,17679699,17785436,17875931,17983804,18077326,18086858,18087039,18193033,18287330,18354482,18356165,18456656,18509060,18591935,18593713,18662404,18687691,18772112,18805092,18835279,18936100,18948590,19016843,19038973,19166851,19167335,19202075,19303846,19358846,19433865,19571879,19805379,19816403,19830702,20123964,20126258,20164195,20195357,20211142,20360943,20531388,21103407,21112398,21118991,21132015,21242974,21357690,21376238,21399610,21724833,21741601,21743491,21751375,21885566,22014570,22056988,22158051,22187462,22202456,22234184,22261717,22470507,22662192,22682247,22699938,22728435,22773187,23084749,23124878,23136403,23245941,23245942,23273993,23602568,23736261,24072822,24424122,24509793,24561623,24650032,24960609,24976009,25062958,25241761,25266658,25344754,25402006,25609649,25678599,25753001,25807484,25873176,26496610,26893351,27601169,28051067,28051089,28514442,28829046,29361949,29367600,29374064,29568061,29739711,29774127,29910125,30833792,30992345,31073040,32814053,33961781,33964137,34591612,35271311,35384245,36950384,36959122,7890674,8638126,8663237,9264463,9601641,9632714,9707618 | 30683932 | 19996314 | 30097457 | | 18287330,18593713,25468996 | 18593713 | 23136403,7650039,7890674 | 18593713 | 15304487 | 11751639,12651860,12949260,15905404,18193033,22187462,9065402 | 20123964 | 20123964 | 8638126 | | 11533658,18356165 | | 12820959 | 12651860,15905404,18193033,18579517,18936100,19443654 | http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/1499 1499 CTNNB1 nuclear receptor binding | protein phosphatase binding | histone methyltransferase binding | protein binding | signaling receptor binding | transmembrane transporter binding | transcription corepressor binding | protein kinase binding | cadherin binding | I-SMAD binding | alpha-catenin binding | SMAD binding | nuclear estrogen receptor binding | transcription coactivator activity | DNA-binding transcription factor binding | phosphatase binding | kinase binding | transcription coregulator binding | enzyme binding | chromatin binding | ubiquitin protein ligase binding | RNA polymerase II-specific DNA-binding transcription factor binding | disordered domain specific binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0097718 12799378,16344550 | | | 10706604,10725230,10773885,10825188,10987273,11401320,11533658,11590244,11713475,11713476,11790773,11955446,12297051,12370829,12408824,12421363,12734196,12820959,12927518,14595118,14600025,15110721,15327768,15327769,15843474,16204054,16212417,16376880,16424001,16442529,16569639,16574648,16630820,16724116,16753179,16858403,16890161,16968744,16983094,17047063,17052462,17057644,17098867,17220478,17237808,17242191,17283121,17289029,17318191,17500595,17510365,17513457,17517646,17679699,17785436,17875931,17983804,18077326,18086858,18087039,18193033,18287330,18354482,18356165,18456656,18509060,18591935,18593713,18662404,18687691,18772112,18805092,18835279,18936100,18948590,19016843,19038973,19166851,19167335,19202075,19303846,19358846,19433865,19571879,19805379,19816403,19830702,20123964,20126258,20164195,20195357,20211142,20360943,20531388,21103407,21112398,21118991,21132015,21242974,21357690,21376238,21399610,21724833,21741601,21743491,21751375,21885566,22014570,22056988,22158051,22187462,22202456,22234184,22261717,22470507,22662192,22682247,22699938,22728435,22773187,23084749,23124878,23136403,23245941,23245942,23273993,23602568,23736261,24072822,24424122,24509793,24561623,24650032,24960609,24976009,25062958,25241761,25266658,25344754,25402006,25609649,25678599,25753001,25807484,25873176,26496610,26893351,27601169,28051067,28051089,28514442,28829046,29361949,29367600,29374064,29568061,29739711,29774127,29910125,30833792,30992345,31073040,32814053,33961781,33964137,34591612,35271311,35384245,36950384,36959122,7890674,8638126,8663237,9264463,9601641,9632714,9707618 | 30683932 | 19996314 | 30097457 | | 18287330,18593713,25468996 | 18593713 | 23136403,7650039,7890674 | 18593713 | 15304487 | 11751639,12651860,12949260,15905404,18193033,22187462,9065402 | 20123964 | 20123964 | 8638126 | | 11533658,18356165 | | 12820959 | 12651860,15905404,18193033,18579517,18936100,19443654 | http://nanbyodata.jp/ontology/NANDO_2200090 NANDO:2200090 小児慢性特定疾病 Specific pediatric chronic disease 髄芽腫 Medulloblastoma MONDO:0007959 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_1200163 NANDO:1200163 指定難病 Designated intractable disease 中間型シスチン症 Intermediate cystinosis MONDO:0009066 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_1200164 NANDO:1200164 指定難病 Designated intractable disease 非腎型シスチン症 Non-nephropathic cystinosis MONDO:0009064 exactMatch http://glycosmos.org/glycogene/138050 138050 HGSNAT acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019 19823584,20650889 | http://nanbyodata.jp/ontology/NANDO_1200103 NANDO:1200103 指定難病 Designated intractable disease サンフィリッポ症候群C型 Sanfilippo disease type C MONDO:0009657 exactMatch http://glycosmos.org/glycogene/1822 1822 ATN1 protein binding | protein domain specific binding | transcription coactivator activity | transcription corepressor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003714 10973986,16713569,17577209,19131340,20696395,24981860,27705803,28514442,33961781,9647693 | 11984006 | | 10973986 http://nanbyodata.jp/ontology/NANDO_1200043 NANDO:1200043 指定難病 Designated intractable disease 歯状核赤核淡蒼球ルイ体萎縮症 Dentatorubropallidoluysian atrophy MONDO:0007435 exactMatch http://glycosmos.org/glycogene/1962 1962 EHHADH enoyl-CoA hydratase activity | NAD+ binding | intramolecular oxidoreductase activity, transposing C=C bonds | delta(3)-delta(2)-enoyl-CoA isomerase activity | 3-hydroxyacyl-CoA dehydrogenase activity | 3-hydroxyacyl-CoA dehydratase activity | enzyme binding | long-chain-3-hydroxyacyl-CoA dehydrogenase activity | protein binding http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0070403 | http://purl.obolibrary.org/obo/GO_0016863 | http://purl.obolibrary.org/obo/GO_0004165 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0016509 | http://purl.obolibrary.org/obo/GO_0005515 15060085,8188243 | | | | 15060085,8188243 | | 16781659 | 15060085 | 25416956,31515488,32296183,33961781,36217029 http://nanbyodata.jp/ontology/NANDO_1200766 NANDO:1200766 指定難病 Designated intractable disease D-二頭酵素欠損症 D-bifunctional protein deficiency MONDO:0009855 exactMatch http://glycosmos.org/glycogene/3691 3691 ITGB4 insulin-like growth factor I binding | metal ion binding | G protein-coupled receptor binding | neuregulin binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001664 | http://purl.obolibrary.org/obo/GO_0038132 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 22351760 | | 24851274 | 20682778 | 10811835,11375975,12482924,19242489,19403692,20603614,21880726,24007983,24851274,25703379,2649503,27178753,32296183,33961781,35657344 | http://nanbyodata.jp/ontology/NANDO_1201066 NANDO:1201066 指定難病 Designated intractable disease 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3849 3849 KRT2 structural constituent of cytoskeleton | protein binding | structural constituent of skin epidermis | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0008092 1380918 | 25416956,25910212,29892012,31515488,32296183 | 7543090 | http://nanbyodata.jp/ontology/NANDO_1200613 NANDO:1200613 指定難病 Designated intractable disease 表在性表皮融解性魚鱗癬 Superficial epidermolytic ichthyosis MONDO:0007813 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_1201065 NANDO:1201065 指定難病 Designated intractable disease 接合部型表皮水疱症（ヘルリッツ型） Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_1201066 NANDO:1201066 指定難病 Designated intractable disease 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_1201065 NANDO:1201065 指定難病 Designated intractable disease 接合部型表皮水疱症（ヘルリッツ型） Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_1201066 NANDO:1201066 指定難病 Designated intractable disease 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_1201065 NANDO:1201065 指定難病 Designated intractable disease 接合部型表皮水疱症（ヘルリッツ型） Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_1201066 NANDO:1201066 指定難病 Designated intractable disease 接合部型表皮水疱症（非ヘルリッツ型） Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/6862 6862 TBXT sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003700 28473536 | 21632880 | 21632880 | 22164283 | 8963900 http://nanbyodata.jp/ontology/NANDO_2200098 NANDO:2200098 小児慢性特定疾病 Specific pediatric chronic disease 脊索腫 Chordoma MONDO:0008978 exactMatch http://glycosmos.org/glycogene/2131 2131 EXT1 protein heterodimerization activity | acetylglucosaminyltransferase activity | protein binding | glucuronosyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | metal ion binding | protein homodimerization activity | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0050508 12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275 http://nanbyodata.jp/ontology/NANDO_2200049 NANDO:2200049 小児慢性特定疾病 Specific pediatric chronic disease 骨軟骨腫症 Osteochondromatosis MONDO:0005508 closeMatch http://glycosmos.org/glycogene/2131 2131 EXT1 protein heterodimerization activity | acetylglucosaminyltransferase activity | protein binding | glucuronosyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | metal ion binding | protein homodimerization activity | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0050508 12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275 http://nanbyodata.jp/ontology/NANDO_2200050 NANDO:2200050 小児慢性特定疾病 Specific pediatric chronic disease 軟骨肉腫 Chondrosarcoma MONDO:0008977 exactMatch http://glycosmos.org/glycogene/2132 2132 EXT2 protein binding | N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity | acetylglucosaminyltransferase activity | glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | heparan sulfate N-acetylglucosaminyltransferase activity | protein homodimerization activity | metal ion binding | glucuronosyltransferase activity | protein heterodimerization activity | glycosyltransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050509 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0050508 | http://purl.obolibrary.org/obo/GO_0042328 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015020 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0016757 18337501,33961781,35137078,36402845,36593275 | 12907669,36593275 | 12907669 | 36593275 | 12907669 | 12907669 | | 12907669 | 12907669 | 12907669 http://nanbyodata.jp/ontology/NANDO_2200049 NANDO:2200049 小児慢性特定疾病 Specific pediatric chronic disease 骨軟骨腫症 Osteochondromatosis MONDO:0005508 closeMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200004 NANDO:2200004 小児慢性特定疾病 Specific pediatric chronic disease 急性骨髄性白血病、最未分化 Acute myeloid leukemia with minimal differentiation MONDO:0005223 exactMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200005 NANDO:2200005 小児慢性特定疾病 Specific pediatric chronic disease 成熟を伴わない急性骨髄性白血病 Acute myeloid leukemia without maturation MONDO:0005224 exactMatch http://glycosmos.org/glycogene/2542 2542 SLC37A4 glucose-6-phosphate transmembrane transporter activity | protein binding | glucose 6-phosphate:inorganic phosphate antiporter activity http://purl.obolibrary.org/obo/GO_0015152 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061513 11140953,12560945 | 32296183 | 18337460,21949678 http://nanbyodata.jp/ontology/NANDO_1200841 NANDO:1200841 指定難病 Designated intractable disease 肝型糖原病Ib型 Hepatic glycogen storage disease type Ib MONDO:0009288 exactMatch http://glycosmos.org/glycogene/2588 2588 GALNS arylsulfatase activity | N-acetylgalactosamine-6-sulfatase activity | metal ion binding | N-acetylgalactosamine-4-sulfatase activity | sulfuric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0043890 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0008484 | | | 8325655 | 15962010 http://nanbyodata.jp/ontology/NANDO_1200106 NANDO:1200106 指定難病 Designated intractable disease モルキオ症候群A型 Morquio syndrome type A MONDO:0009659 exactMatch http://glycosmos.org/glycogene/23193 23193 GANAB protein binding | RNA binding | Glc2Man9GlcNAc2 oligosaccharide glucosidase activity | alpha-glucosidase activity | carbohydrate binding | glucan 1,3-alpha-glucosidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0106407 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0033919 10929008 | 22658674 | | 28375157 | | 10929008 http://nanbyodata.jp/ontology/NANDO_2200153 NANDO:2200153 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_1200057 NANDO:1200057 指定難病 Designated intractable disease ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_1200058 NANDO:1200058 指定難病 Designated intractable disease ゴーシェ病2型 Gaucher disease type 2 MONDO:0009266 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_1200059 NANDO:1200059 指定難病 Designated intractable disease ゴーシェ病3型 Gaucher disease type 3 MONDO:0009267 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_1200067 NANDO:1200067 指定難病 Designated intractable disease 乳児型GM1-ガングリオシドーシス Infantile GM1 gangliosidosis MONDO:0009260 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_1200068 NANDO:1200068 指定難病 Designated intractable disease 若年型GM1-ガングリオシドーシス Juvenile GM1 gangliosidosis MONDO:0009261 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_1200069 NANDO:1200069 指定難病 Designated intractable disease 成人型GM1-ガングリオシドーシス Adult GM1 gangliosidosis MONDO:0009262 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_1200107 NANDO:1200107 指定難病 Designated intractable disease モルキオ症候群B型 Morquio syndrome type B MONDO:0009660 exactMatch http://glycosmos.org/glycogene/2760 2760 GM2A beta-N-acetylgalactosaminidase activity | lipid transporter activity | sphingolipid activator protein activity | phospholipase activator activity | protein binding http://purl.obolibrary.org/obo/GO_0032428 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0030290 | http://purl.obolibrary.org/obo/GO_0016004 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_1200073 NANDO:1200073 指定難病 Designated intractable disease AB型GM2ガングリオシドーシス GM2 gangliosidosis AB variant MONDO:0010099 exactMatch http://glycosmos.org/glycogene/2799 2799 GNS glycosaminoglycan binding | N-acetylglucosamine-6-sulfatase activity | sulfuric ester hydrolase activity | sulfate binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0008449 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | 15595925 | 15962010 | | | 17474147 http://nanbyodata.jp/ontology/NANDO_1200104 NANDO:1200104 指定難病 Designated intractable disease サンフィリッポ症候群D型 Sanfilippo disease type D MONDO:0009658 exactMatch http://glycosmos.org/glycogene/2934 2934 GSN actin binding | actin filament binding | calcium ion binding | myosin II binding | phosphatidylinositol-4,5-bisphosphate binding | phosphatidylinositol 3-kinase catalytic subunit binding | protein binding http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0045159 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0036313 | http://purl.obolibrary.org/obo/GO_0005515 18266911,24236012 | | 14596804 | 23325791 | | 30568254 | 10793131,16531231,17470807,17620599,18689676,19015515,19574450,19666512,23325791,29961565,32814053 http://nanbyodata.jp/ontology/NANDO_1201063 NANDO:1201063 指定難病 Designated intractable disease 家族性アミロイドニューロパチーIV型 Familial amyloid polyneuropathy type 4 MONDO:0007097 exactMatch http://glycosmos.org/glycogene/4233 4233 MET protein phosphatase binding | brain-derived neurotrophic factor receptor activity | hepatocyte growth factor receptor activity | macrophage colony-stimulating factor receptor activity | vascular endothelial growth factor receptor activity | fibroblast growth factor receptor activity | identical protein binding | insulin receptor activity | epidermal growth factor receptor activity | GPI-linked ephrin receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor beta-receptor activity | platelet-derived growth factor alpha-receptor activity | protein binding | semaphorin receptor activity | insulin-like growth factor receptor activity | transmembrane-ephrin receptor activity | molecular function activator activity | placental growth factor receptor activity | ATP binding | boss receptor activity | stem cell factor receptor activity | protein tyrosine kinase activity http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0004713 18819921 | | | | | | 16537482,20624990 | | | | | | | 11571281,11590178,12475979,15167892,15184888,16101282,16537444,16537482,17662939,17804794,17981115,18273061,1846706,18579758,19167335,19604117,20624308,20624990,20802513,21163258,21242965,22404908,22789536,22897854,22962849,23866081,24034250,24189400,24728074,25241761,26517842,26551075,27334921,28330616,32814053,33061433,35384245,35405500 | | | | 21247903 | | | | | 3325883 http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/4287 4287 ATXN3 K48-linked deubiquitinase activity | cysteine-type deubiquitinase activity | identical protein binding | K63-linked deubiquitinase activity | ATPase binding | protein binding | ubiquitin protein ligase binding http://purl.obolibrary.org/obo/GO_1990380 | http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061578 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031625 22970133 | 33157014 | 16525503,22129356 | 22970133 | 17000876,22970133 | 16525503,16713569,17000876,19153604,20414249,21386698,21625540,22970133,24063750,28445460,30455355,31379806,32814053 | 24063750,24068323 http://nanbyodata.jp/ontology/NANDO_1200041 NANDO:1200041 指定難病 Designated intractable disease 脊髄小脳失調症3型 Spinocerebellar ataxia type 3 MONDO:0007182 exactMatch http://glycosmos.org/glycogene/4613 4613 MYCN sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity | protein dimerization activity | protein binding | kinase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003677 28473536 | 3796607 | | 10597290,11593398,17289033,18003922,19111882,21698133,23792191,25175806,26766587,27728805,27837025 | 27837025 | | 17327229 | 17327229 | 10597290 http://nanbyodata.jp/ontology/NANDO_2200040 NANDO:2200040 小児慢性特定疾病 Specific pediatric chronic disease 神経芽腫 Neuroblastoma MONDO:0005072 exactMatch http://glycosmos.org/glycogene/4669 4669 NAGLU alpha-N-acetylglucosaminidase activity http://purl.obolibrary.org/obo/GO_0004561 "" http://nanbyodata.jp/ontology/NANDO_1200102 NANDO:1200102 指定難病 Designated intractable disease サンフィリッポ症候群B型 Sanfilippo disease type B MONDO:0009656 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_1200118 NANDO:1200118 指定難病 Designated intractable disease シアリドーシスII型 Sialidosis type 2 MONDO:0009738 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_1200120 NANDO:1200120 指定難病 Designated intractable disease 新生児及び早期乳児型ガラクトシアリドーシス Galactosialidosis, early infantile form MONDO:0009738 closeMatch http://glycosmos.org/glycogene/4869 4869 NPM1 NF-kappaB binding | core promoter sequence-specific DNA binding | transcription coactivator activity | ribosomal large subunit binding | protein kinase inhibitor activity | rRNA binding | RNA binding | molecular adaptor activity | ribosomal small subunit binding | chromatin binding | protein kinase binding | Tat protein binding | DNA-binding transcription factor binding | unfolded protein binding | protein homodimerization activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043023 | http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0019843 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 15087454 | 19160485 | 15087454,19160485 | 18809582 | 12882984 | 24106084 | 12058066,22658674,22681889 | 38231884 | 18809582 | | 20352051 | 9094689 | 19160485 | 10211837 | 24106084,9121481 | 12080348,12882984,15144954,15161933,15184379,15989956,16376884,16540653,16648475,16957780,17015463,17318229,17438371,17475909,17535915,17602943,18243139,18259216,18420587,19160485,19188445,19410545,20075868,20080577,20159986,20208519,20618440,20701745,21326211,21822216,21988832,22510990,22528486,22712502,22720776,23019224,23816991,23892143,23972994,24462683,24857377,25416956,25956029,26496610,26871637,28255170,28611246,29568061,30021884,31515488,32296183,32814053,33961781,35271311,35709258,38029384,39251607 | 11602260 http://nanbyodata.jp/ontology/NANDO_2200005 NANDO:2200005 小児慢性特定疾病 Specific pediatric chronic disease 成熟を伴わない急性骨髄性白血病 Acute myeloid leukemia without maturation MONDO:0005224 exactMatch http://glycosmos.org/glycogene/4916 4916 NTRK3 boss receptor activity | transmembrane receptor protein tyrosine kinase activity | placental growth factor receptor activity | transmembrane-ephrin receptor activity | p53 binding | protein tyrosine kinase collagen receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | neurotrophin binding | macrophage colony-stimulating factor receptor activity | protein binding | neurotrophin receptor activity | insulin-like growth factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | epidermal growth factor receptor activity | hepatocyte growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | vascular endothelial growth factor receptor activity | platelet-derived growth factor beta-receptor activity | fibroblast growth factor receptor activity | insulin receptor activity http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0043121 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005030 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005009 | | | | 23027130 | | | | | | 12237455,20565848,21102451,32707033,35384245,36931259 | 23027130 | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200060 NANDO:2200060 小児慢性特定疾病 Specific pediatric chronic disease 線維肉腫 Fibrosarcoma MONDO:0005164 exactMatch http://glycosmos.org/glycogene/7153 7153 TOP2A DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity | ubiquitin binding | ATP binding | protein binding | magnesium ion binding | protein homodimerization activity | RNA binding | protein kinase C binding | DNA binding, bending | ATP-dependent activity, acting on DNA | chromatin binding | protein heterodimerization activity | DNA negative supercoiling activity | DNA binding http://purl.obolibrary.org/obo/GO_0003918 | http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0008301 | http://purl.obolibrary.org/obo/GO_0008094 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0034335 | http://purl.obolibrary.org/obo/GO_0003677 12711669,15491148,16611985 | 15965487 | | 10666337,10788521,10959840,11062478,11136718,12711669,15965487,16611985,17567603,17983804,18790802,19390626,20457750,23213405,23652018,23698369,26030138,36271492 | 22323612 | 10473615 | 22681889 | 16611985 | 22323612 | 12079377 | 9049244 | 10473615 | | 10788521,12079377,9049244 http://nanbyodata.jp/ontology/NANDO_2200040 NANDO:2200040 小児慢性特定疾病 Specific pediatric chronic disease 神経芽腫 Neuroblastoma MONDO:0005072 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200073 NANDO:2200073 小児慢性特定疾病 Specific pediatric chronic disease 副腎皮質癌 Adrenocortical carcinoma MONDO:0006639 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200093 NANDO:2200093 小児慢性特定疾病 Specific pediatric chronic disease 脈絡叢乳頭腫 Choroid plexus papilloma MONDO:0009837 exactMatch http://glycosmos.org/glycogene/7276 7276 TTR thyroid hormone binding | molecular sequestering activity | protein binding | hormone activity | identical protein binding http://purl.obolibrary.org/obo/GO_0070324 | http://purl.obolibrary.org/obo/GO_0140313 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0042802 | | 16189514,16716307,18272491,20646067,21777382,21900206,25416956,29892012,29997244,30213975,31515488,32296183,32814053,33961781,986177 | | 19861125,21422279,21740906,21777382,23792159,23850452 http://nanbyodata.jp/ontology/NANDO_1201060 NANDO:1201060 指定難病 Designated intractable disease 家族性アミロイドニューロパチーI型 Familial amyloid polyneuropathy type 1 MONDO:0007100 closeMatch http://glycosmos.org/glycogene/80114 80114 BICC1 RNA binding http://purl.obolibrary.org/obo/GO_0003723 22658674 http://nanbyodata.jp/ontology/NANDO_2200153 NANDO:2200153 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/79158 79158 GNPTAB protein binding | calcium ion binding | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003976 25416956,26385638,28514442,33961781,36074821 | | 19955174,23733939,25505245,25788519 http://nanbyodata.jp/ontology/NANDO_1200124 NANDO:1200124 指定難病 Designated intractable disease ムコリピドーシスII型 Mucolipidosis II MONDO:0009650 exactMatch http://glycosmos.org/glycogene/178 178 AGL 4-alpha-glucanotransferase activity | glycogen debranching enzyme activity | protein binding | polyubiquitin modification-dependent protein binding | polysaccharide binding | amylo-alpha-1,6-glucosidase activity http://purl.obolibrary.org/obo/GO_0004134 | http://purl.obolibrary.org/obo/GO_0004133 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0004135 2961257 | | 17908927,24837458 | | | 2961257 http://nanbyodata.jp/ontology/NANDO_1200844 NANDO:1200844 指定難病 Designated intractable disease 肝型糖原病IIIc型 Hepatic glycogen storage disease type IIIc MONDO:0009291 closeMatch http://glycosmos.org/glycogene/189 189 AGXT serine-pyruvate transaminase activity | amino acid binding | alanine-glyoxylate transaminase activity | protein binding | transaminase activity | pyridoxal phosphate binding | identical protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0004760 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0008453 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 10347152 | 18492492 | 10960483,12777626,16971151,17696873,18492492,22198249,2363689 | 15911627,22529745,32296183 | 18492492,20133649 | 15802217,17696873,20133649 | 12899834,22529745,32296183 | 10960483,12777626,12899834,16971151,20133649 http://nanbyodata.jp/ontology/NANDO_1200773 NANDO:1200773 指定難病 Designated intractable disease 原発性高シュウ酸尿症I型 Primary hyperoxaluria type 1 MONDO:0009823 exactMatch http://glycosmos.org/glycogene/224 224 ALDH3A2 protein homodimerization activity | long-chain-aldehyde dehydrogenase activity | protein binding | aldehyde dehydrogenase (NAD+) activity | 3-chloroallyl aldehyde dehydrogenase activity | long-chain-alcohol oxidase activity | medium-chain-aldehyde dehydrogenase activity http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0050061 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004029 | http://purl.obolibrary.org/obo/GO_0004028 | http://purl.obolibrary.org/obo/GO_0046577 | http://purl.obolibrary.org/obo/GO_0052814 25047030 | 18035827,25047030 | 25047030 | 15110319,8528251,9133646 | | 18035827 | 18035827,25047030 http://nanbyodata.jp/ontology/NANDO_1200620 NANDO:1200620 指定難病 Designated intractable disease シェーグレン・ラルソン症候群 Sjögren-Larsson syndrome MONDO:0010031 exactMatch http://glycosmos.org/glycogene/238 238 ALK vascular endothelial growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | transmembrane receptor protein tyrosine kinase activity | insulin receptor activity | hepatocyte growth factor receptor activity | ATP binding | identical protein binding | platelet-derived growth factor beta-receptor activity | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | insulin-like growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | epidermal growth factor receptor activity | protein binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | boss receptor activity | protein tyrosine kinase activity | receptor signaling protein tyrosine kinase activator activity | heparin binding http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0030298 | http://purl.obolibrary.org/obo/GO_0008201 | | | 19459784,30061385,34646012,9174053 | | | | 25517749 | | | | | | | | | 17681947,22939624,26418745,35384245 | | | | 9174053 | 30061385,34646012 | 25605972,34646012 http://nanbyodata.jp/ontology/NANDO_2200040 NANDO:2200040 小児慢性特定疾病 Specific pediatric chronic disease 神経芽腫 Neuroblastoma MONDO:0005072 exactMatch http://glycosmos.org/glycogene/324 324 APC gamma-catenin binding | protein kinase regulator activity | beta-catenin binding | microtubule binding | dynein complex binding | ubiquitin protein ligase binding | protein kinase binding | microtubule plus-end binding | protein binding | cadherin binding http://purl.obolibrary.org/obo/GO_0045295 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051010 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 7890674 | 11972058 | 10773885,11533658,15327768,16753179,7806582,7890674,9707618 | 11166179,16188939 | 28057765 | 18076571 | 24130866,8638126 | 19632184 | 10811618,10947987,11283619,11389840,11425858,11943150,11972058,15161933,15327768,15327769,16212417,16293619,16611247,16753179,17145773,17218255,17318191,17510365,17588722,17599059,17925383,18281465,18502210,19131971,19632184,20224554,20936779,21311754,22000517,22056988,22128170,22682247,23185543,24251807,25241761,26496610,30126976,31413325,32707033,33961781,35271311,36950384,39009827,8638125,8638126,9601641,9707618 | 7890674 http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_1200147 NANDO:1200147 指定難病 Designated intractable disease 乳児型遊離シアル酸蓄積症 Infantile free sialic acid storage disease MONDO:0010027 exactMatch http://glycosmos.org/glycogene/675 675 BRCA2 histone acetyltransferase activity | protease binding | identical protein binding | single-stranded DNA binding | protein binding | gamma-tubulin binding | histone H4 acetyltransferase activity | histone H3 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043015 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0010484 9824164 | 15314155 | 21601571,25282148 | 20729832 | 10373512,10551859,11597317,12242698,12442171,15115758,15800615,15930293,15967112,16099937,16205630,16275750,17420451,17515903,17515904,17541404,18212739,18264088,19303847,19369211,19423707,19609323,19628690,20421506,20729832,20729859,21399666,21601571,21719596,22116401,22193777,22293751,24013206,24141787,24485656,24981860,25282148,25585578,26833090,28319063,30410870,31242413,33961781,34591612,39009827,9560268,9774970 | 17286961 | 9619837 | 9619837 http://nanbyodata.jp/ontology/NANDO_2200090 NANDO:2200090 小児慢性特定疾病 Specific pediatric chronic disease 髄芽腫 Medulloblastoma MONDO:0007959 exactMatch http://glycosmos.org/glycogene/7531 7531 YWHAE ubiquitin protein ligase binding | phosphoprotein binding | identical protein binding | RNA binding | signaling adaptor activity | transmembrane transporter binding | protein binding | histone deacetylase binding | scaffold protein binding | enzyme binding | calcium channel inhibitor activity | potassium channel regulator activity | calcium channel regulator activity | protein domain specific binding | protein phosphatase inhibitor activity | protein sequestering activity | MHC class II protein complex binding | phosphoserine residue binding | protein heterodimerization activity | protein phosphatase binding | cadherin binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0015459 | http://purl.obolibrary.org/obo/GO_0005246 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0004864 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0050815 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0045296 19725078 | 10869435 | 17085597,20936779 | 22658674 | 22607805 | 11953308,18029012 | 10644344,11504882,11697890,11784866,12392720,1266503,12917326,14743216,15023544,15696159,15722337,16099986,16189514,16227609,16260042,16306228,16376338,16407301,16511560,16775625,17043677,17085597,17461779,17979178,18045992,18227151,18356162,18458160,18573912,19172738,19331823,19640509,19935711,20562859,20618440,20642453,20936779,21044950,21242966,21282530,21988832,22151054,22246185,22863774,23075850,23275563,23572552,23622247,23752268,24255178,24366813,24725412,24947832,24981860,25036637,25189701,25332407,25588844,25751139,25852190,25959826,26184334,26496610,27030597,27173435,27880917,28514442,28877994,29100370,29106533,29128334,29769719,30611118,31046837,31413325,31980649,32296183,32707033,32814053,33961781,35271311,36096339,36931259,37045861,39251607,7644510 | 10869435 | 10409742 | 10788521 | 18029012 | 11953308 | 18029012 | | | 22797923 | 20458337 | 10869435 | 11953308 | | 25468996 http://nanbyodata.jp/ontology/NANDO_2200044 NANDO:2200044 小児慢性特定疾病 Specific pediatric chronic disease 腎明細胞肉腫 Clear cell sarcoma of the kidney MONDO:0005006 exactMatch http://glycosmos.org/glycogene/773 773 CACNA1A syntaxin binding | amyloid-beta binding | metal ion binding | high voltage-gated calcium channel activity | voltage-gated calcium channel activity | protein binding | calcium ion binding http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 8692999 | 23376566 | | 21883149,23376566,24836863,26716990 | 10753886,12451115,21883149 | 11865310,21078624,33539324,8692999 | http://nanbyodata.jp/ontology/NANDO_1200042 NANDO:1200042 指定難病 Designated intractable disease 脊髄小脳失調症6型 Spinocerebellar ataxia type 6 MONDO:0008457 exactMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200057 NANDO:1200057 指定難病 Designated intractable disease ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 exactMatch http://glycosmos.org/glycogene/3074 3074 HEXB beta-N-acetylglucosaminidase activity | identical protein binding | protein binding | N-acetyl-beta-D-galactosaminidase activity | acetylglucosaminyltransferase activity | beta-N-acetylhexosaminidase activity http://purl.obolibrary.org/obo/GO_0016231 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0102148 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0004563 | 6230359 | 16698036,28514442,32296183,32814053,33961781 | | 25645918 | 8123671,8672428 http://nanbyodata.jp/ontology/NANDO_1200072 NANDO:1200072 指定難病 Designated intractable disease サンドホフ病 Sandhoff disease MONDO:0010006 exactMatch http://glycosmos.org/glycogene/3119 3119 HLA-DQB1 peptide antigen binding | MHC class II protein complex binding | protein binding | MHC class II receptor activity http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0032395 20356827 | | 14769912,17629515,29997244,33961781 | 2998758 http://nanbyodata.jp/ontology/NANDO_1200189 NANDO:1200189 指定難病 Designated intractable disease 家族性クロイツフェルト・ヤコブ病 Familial Creutzfeldt-Jakob disease MONDO:0007403 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_1200080 NANDO:1200080 指定難病 Designated intractable disease 若年型異染性白質ジストロフィー Juvenile ｍetachromatic leukodystrophy MONDO:0009591 exactMatch http://glycosmos.org/glycogene/411 411 ARSB N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 19306108 | | 2303452 http://nanbyodata.jp/ontology/NANDO_1200109 NANDO:1200109 指定難病 Designated intractable disease マロトー・ラミー症候群（重症型） Maroteaux Lamy syndrome, rapidly progressing form MONDO:0009661 closeMatch http://glycosmos.org/glycogene/411 411 ARSB N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 19306108 | | 2303452 http://nanbyodata.jp/ontology/NANDO_1200110 NANDO:1200110 指定難病 Designated intractable disease マロトー・ラミー症候群（軽症型） Maroteaux Lamy syndrome, slowly progressing form MONDO:0009661 closeMatch http://glycosmos.org/glycogene/5157 5157 PDGFRL platelet-derived growth factor beta-receptor activity | platelet activating factor receptor activity http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004992 7898930 | 7898930 http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/5257 5257 PHKB calmodulin binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | 21418524,25051373,25416956,32296183 http://nanbyodata.jp/ontology/NANDO_1200848 NANDO:1200848 指定難病 Designated intractable disease 肝型糖原病IXb型 Hepatic glycogen storage disease type IXb MONDO:0009868 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/5310 5310 PKD1 calcium channel activity | transcription regulator inhibitor activity | Wnt receptor activity | protein binding | protein kinase binding | carbohydrate binding | monoatomic cation channel activity | protein domain specific binding | transmembrane transporter binding http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0140416 | http://purl.obolibrary.org/obo/GO_0042813 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005261 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0044325 27214281 | | 27214281 | 10097141,15563610,19556541,20168298,20856870,21642537,24939912,30093605,37681898 | 17980165 | | | 9171830 | 9192675 http://nanbyodata.jp/ontology/NANDO_2200153 NANDO:2200153 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/5311 5311 PKD2 voltage-gated monoatomic cation channel activity | potassium channel activity | voltage-gated calcium channel activity | ATPase binding | protein binding | phosphoprotein binding | transcription regulator inhibitor activity | outward rectifier potassium channel activity | calcium-induced calcium release activity | cytoskeletal protein binding | HLH domain binding | calcium channel activity | voltage-gated potassium channel activity | voltage-gated sodium channel activity | muscle alpha-actinin binding | transmembrane transporter binding | signaling receptor binding | monoatomic cation channel activity | actinin binding | voltage-gated monoatomic ion channel activity | protein homodimerization activity | calcium ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0022843 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0051117 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0140416 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0008092 | http://purl.obolibrary.org/obo/GO_0043398 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0005248 | http://purl.obolibrary.org/obo/GO_0051371 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005261 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0005244 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0042802 11252306 | 26269590 | 11252306,15692563 | | 10097141,10760273,12525172,12809519,15123714,15194699,15692563,16223735,16311606,18235088,19193631,19556541,19812035,19850920,20168298,21642537,25114176,25416956,28514442,29892012,30093605,32296183,33961781,36420836,9171830,9192675 | 19801576 | 16311606 | | 11854751 | 10760273 | 16311606 | 27214281 | 27071085 | 11252306,27071085 | | 10097141 | 16223735 | 29899465 | 15843396 | 11854751 | 38483987,9192675 | 24990821,38483987 | 19556541,20168298,21622852,27768895,27991905,28092368 http://nanbyodata.jp/ontology/NANDO_2200153 NANDO:2200153 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性多発性嚢胞腎 Autosomal dominant polycystic kidney disease MONDO:0004691 exactMatch http://glycosmos.org/glycogene/5314 5314 PKHD1 protein binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 16243292,18235088,20048263,20709014 | 11919560 http://nanbyodata.jp/ontology/NANDO_2200154 NANDO:2200154 小児慢性特定疾病 Specific pediatric chronic disease 常染色体劣性多発性嚢胞腎 Autosomal recessive polycystic kidney disease MONDO:0009889 exactMatch http://glycosmos.org/glycogene/5538 5538 PPT1 long-chain acyl-CoA hydrolase activity | lysophosphatidic acid binding | protein binding | sulfatide binding | palmitoyl-(protein) hydrolase activity http://purl.obolibrary.org/obo/GO_0052816 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008474 10658183 | 18317235 | 17237713,19941651,25544563,32814053 | 18317235 | 10658183,10737604,7637805 http://nanbyodata.jp/ontology/NANDO_1200152 NANDO:1200152 指定難病 Designated intractable disease 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 closeMatch http://glycosmos.org/glycogene/5621 5621 PRNP ATP-dependent protein binding | cuprous ion binding | molecular condensate scaffold activity | tubulin binding | aspartic-type endopeptidase inhibitor activity | protein binding | type 5 metabotropic glutamate receptor binding | molecular function activator activity | protein-containing complex binding | amyloid-beta binding | microtubule binding | lamin binding | type 8 metabotropic glutamate receptor binding | cupric ion binding | molecular adaptor activity | identical protein binding | signaling receptor activity | protein-folding chaperone binding | copper ion binding | transmembrane transporter binding | glycosaminoglycan binding | protease binding http://purl.obolibrary.org/obo/GO_0043008 | http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031802 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0031805 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0002020 | 20564047 | 30401430 | 16004966 | | 16286452,17500595,18482256,21920025,22285492,22484317,23236467,23907583,24012003,24028865,24390569,28298427,28650319,28671123,32814053 | | | 23386614 | 21593310,22820466,24012003,26871627 | 16004966 | | 24012003 | | 30401430 | 16286452,18025469,18436646,19204296,19278656,19927125,20564047,21920025,32284600,32514176,34516876 | | | 11900542,16294306,19242475,24970228 | | | http://nanbyodata.jp/ontology/NANDO_1200189 NANDO:1200189 指定難病 Designated intractable disease 家族性クロイツフェルト・ヤコブ病 Familial Creutzfeldt-Jakob disease MONDO:0007403 exactMatch http://glycosmos.org/glycogene/5621 5621 PRNP ATP-dependent protein binding | cuprous ion binding | molecular condensate scaffold activity | tubulin binding | aspartic-type endopeptidase inhibitor activity | protein binding | type 5 metabotropic glutamate receptor binding | molecular function activator activity | protein-containing complex binding | amyloid-beta binding | microtubule binding | lamin binding | type 8 metabotropic glutamate receptor binding | cupric ion binding | molecular adaptor activity | identical protein binding | signaling receptor activity | protein-folding chaperone binding | copper ion binding | transmembrane transporter binding | glycosaminoglycan binding | protease binding http://purl.obolibrary.org/obo/GO_0043008 | http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031802 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0031805 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0002020 | 20564047 | 30401430 | 16004966 | | 16286452,17500595,18482256,21920025,22285492,22484317,23236467,23907583,24012003,24028865,24390569,28298427,28650319,28671123,32814053 | | | 23386614 | 21593310,22820466,24012003,26871627 | 16004966 | | 24012003 | | 30401430 | 16286452,18025469,18436646,19204296,19278656,19927125,20564047,21920025,32284600,32514176,34516876 | | | 11900542,16294306,19242475,24970228 | | | http://nanbyodata.jp/ontology/NANDO_1200190 NANDO:1200190 指定難病 Designated intractable disease ゲルストマン・ストロイスラー・シャインカー病 Gerstmann-Straussler-Scheinker syndrome MONDO:0007656 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_1200080 NANDO:1200080 指定難病 Designated intractable disease 若年型異染性白質ジストロフィー Juvenile ｍetachromatic leukodystrophy MONDO:0009591 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_1200082 NANDO:1200082 指定難病 Designated intractable disease サポシンB欠損症 Saposin B deficiency MONDO:0009590 exactMatch http://glycosmos.org/glycogene/5745 5745 PTH1R protein homodimerization activity | G protein-coupled peptide receptor activity | protein binding | peptide hormone binding | parathyroid hormone receptor activity http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0008528 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004991 27160269 | | 19674967,23124878,32296183 | 19674967 | 19674967,8397094 http://nanbyodata.jp/ontology/NANDO_2200049 NANDO:2200049 小児慢性特定疾病 Specific pediatric chronic disease 骨軟骨腫症 Osteochondromatosis MONDO:0008145 closeMatch http://glycosmos.org/glycogene/5925 5925 RB1 identical protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | DNA-binding transcription factor binding | ubiquitin protein ligase binding | disordered domain specific binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | phosphoprotein binding | kinase binding | transcription corepressor activity | molecular adaptor activity | importin-alpha family protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0061676 16360038,8288605 | | 10613832,10779361,10783144,10944455,11073990,11268000,11571652,12037672,12434308,12502741,12743606,12813456,1331501,14555653,14645241,15084261,15107404,15542589,16061792,16249186,16286473,16360038,16374512,16510145,16616919,16763564,16766265,16964284,17045206,17274640,17292836,17349581,17380128,17540172,17620057,18391203,1870208,19017275,19249677,19513100,19651603,20088881,20195357,20870719,20871633,21119616,21139044,2138977,2153075,2162480,2189724,21903422,21952639,22157815,22301153,22366686,22615382,22773103,22810586,22898364,23472054,23602568,23752268,23783631,23859194,24823443,25609649,25814554,29521627,29997244,32707033,34591612,34591642,35140242,7503932,7592647,7651420,7664264,7791904,7890747,7923370,8756624,9067421,9395244,9448006,9468139,9468140,9608663,9697699,9858607,9881977 | 19223331 | 10944455 | 8245034 | | 16360038 | 16286473 | 19149898 | 16360038 | 12695505 http://nanbyodata.jp/ontology/NANDO_2200042 NANDO:2200042 小児慢性特定疾病 Specific pediatric chronic disease 網膜芽細胞腫 Retinoblastoma MONDO:0008380 exactMatch http://glycosmos.org/glycogene/6310 6310 ATXN1 identical protein binding | poly(G) binding | poly(U) RNA binding | chromatin binding | protein binding | RNA binding | DNA binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0034046 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003677 11001934,15893665,16713569,18337722,25416956,32296183 | 11136710 | 11136710 | | 11001934,12093161,12757932,15016912,16713569,17110330,17557114,18337722,20037628,21475249,23275563,23414517,25416956,25959826,28514442,32296183,32814053,33961781,35140242,35271311,36931259 | | http://nanbyodata.jp/ontology/NANDO_1200045 NANDO:1200045 指定難病 Designated intractable disease 脊髄小脳失調症1型 Spinocerebellar ataxia type 1 MONDO:0008119 exactMatch http://glycosmos.org/glycogene/6311 6311 ATXN2 mRNA binding | epidermal growth factor receptor binding | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0005154 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | 18602463 | 10814712,15663938,16115810,16713569,17097639,17392519,18602463,20181956,20740007,23209657,24981860,26184334,32814053,33961781,35271311,39251607 | 10814712,22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200046 NANDO:1200046 指定難病 Designated intractable disease 脊髄小脳失調症2型 Spinocerebellar ataxia type 2 MONDO:0008458 exactMatch http://glycosmos.org/glycogene/6448 6448 SGSH sulfuric ester hydrolase activity | metal ion binding | N-sulfoglucosamine sulfohydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016250 | http://purl.obolibrary.org/obo/GO_0005515 | | 15146460,7493035 | 15962010,33961781 http://nanbyodata.jp/ontology/NANDO_1200101 NANDO:1200101 指定難病 Designated intractable disease サンフィリッポ症候群A型 Sanfilippo disease type A MONDO:0009655 exactMatch http://glycosmos.org/glycogene/6609 6609 SMPD1 zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061750 | http://purl.obolibrary.org/obo/GO_0004767 | http://purl.obolibrary.org/obo/GO_0034480 | http://purl.obolibrary.org/obo/GO_0016798 | http://purl.obolibrary.org/obo/GO_0005515 8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428 http://nanbyodata.jp/ontology/NANDO_1200061 NANDO:1200061 指定難病 Designated intractable disease ニーマン・ピック病A型 Niemann-Pick disease type A MONDO:0009756 exactMatch http://glycosmos.org/glycogene/54840 54840 APTX zinc ion binding | single-strand break-containing DNA binding | damaged DNA binding | chromatin binding | double-stranded DNA binding | protein binding | mismatched DNA binding | phosphoglycolate phosphatase activity | polynucleotide 3'-phosphatase activity | DNA 5'-adenosine monophosphate hydrolase activity | DNA-3'-diphospho-5'-guanosine diphosphatase | phosphoprotein binding | single-stranded DNA binding | metal ion binding | double-stranded RNA binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_1990165 | http://purl.obolibrary.org/obo/GO_0003684 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030983 | http://purl.obolibrary.org/obo/GO_0008967 | http://purl.obolibrary.org/obo/GO_0046403 | http://purl.obolibrary.org/obo/GO_0033699 | http://purl.obolibrary.org/obo/GO_0120108 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003725 | | 14755728 | 15044383 | 16547001,17276982 | 14755728,15044383,15380105,15555565,16439205,16713569,16777843,25416956,25910212,32296183,33961781,35271311 | | 17519253 | 17519253 | 16547001,16964241,17276982,17519253 | | 20008512 | | | 16547001 http://nanbyodata.jp/ontology/NANDO_1200051 NANDO:1200051 指定難病 Designated intractable disease アプラタキシン欠損症 Ataxia-oculomotor apraxia type 1 MONDO:0008842 exactMatch http://glycosmos.org/glycogene/54880 54880 BCOR histone deacetylase binding | heat shock protein binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | transcription corepressor activity | DNA-binding transcription factor binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004842 10898795 | 16943429 | 19578371 | 16713569,16943429,23260655,23523425,24981860,25416956,26496610,26687479,27505670,27705803,33961781,35271311 | | 10898795,15878880 | 10898795 | 16943429 http://nanbyodata.jp/ontology/NANDO_2200044 NANDO:2200044 小児慢性特定疾病 Specific pediatric chronic disease 腎明細胞肉腫 Clear cell sarcoma of the kidney MONDO:0005006 exactMatch http://glycosmos.org/glycogene/8443 8443 GNPAT glycerol-3-phosphate O-acyltransferase activity | glycerone-phosphate O-acyltransferase activity http://purl.obolibrary.org/obo/GO_0004366 | http://purl.obolibrary.org/obo/GO_0016287 | 10395968,11152660,15687349,8186247,9536089 http://nanbyodata.jp/ontology/NANDO_1200771 NANDO:1200771 指定難病 Designated intractable disease 根性点状軟骨異形成症2型 Rhizomelic chondrodysplasia punctata type 2 MONDO:0009112 exactMatch http://glycosmos.org/glycogene/8643 8643 PTCH2 hedgehog receptor activity | smoothened binding | hedgehog family protein binding http://purl.obolibrary.org/obo/GO_0008158 | http://purl.obolibrary.org/obo/GO_0005119 | http://purl.obolibrary.org/obo/GO_0097108 11001584 | 9811851 | 11001584,9811851 http://nanbyodata.jp/ontology/NANDO_2200090 NANDO:2200090 小児慢性特定疾病 Specific pediatric chronic disease 髄芽腫 Medulloblastoma MONDO:0007959 exactMatch http://glycosmos.org/glycogene/3295 3295 HSD17B4 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity | protein homodimerization activity | (3R)-hydroxyacyl-CoA dehydrogenase (NAD) activity | isomerase activity | estradiol 17-beta-dehydrogenase [NAD(P)] activity | 3-hydroxyacyl-CoA dehydratase activity | 17-beta-hydroxysteroid dehydrogenase (NAD+) activity | 3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity http://purl.obolibrary.org/obo/GO_0033989 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0106386 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_0004303 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0044594 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0004300 | 15644212,9089413 | | | 7487879 | 10400999,9089413,9482850 | | 10706581,15060085,9089413,9482850 | 10706581,15060085,9482850 http://nanbyodata.jp/ontology/NANDO_1200766 NANDO:1200766 指定難病 Designated intractable disease D-二頭酵素欠損症 D-bifunctional protein deficiency MONDO:0009855 exactMatch http://glycosmos.org/glycogene/3417 3417 IDH1 protein homodimerization activity | cadherin binding | NAD binding | isocitrate dehydrogenase (NADP+) activity | identical protein binding | NADP binding | protein binding | magnesium ion binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0004450 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0050661 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000287 19935646 | 25468996 | | 10521434,19935646,20171178 | 19935646,21516116,26436839 | | 31983428,32814053 | 19935646 http://nanbyodata.jp/ontology/NANDO_2200049 NANDO:2200049 小児慢性特定疾病 Specific pediatric chronic disease 骨軟骨腫症 Osteochondromatosis MONDO:0008145 closeMatch http://glycosmos.org/glycogene/3418 3418 IDH2 NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450 | | 22416140,23226729 http://nanbyodata.jp/ontology/NANDO_2200049 NANDO:2200049 小児慢性特定疾病 Specific pediatric chronic disease 骨軟骨腫症 Osteochondromatosis MONDO:0008145 closeMatch http://glycosmos.org/glycogene/3482 3482 IGF2R retromer complex binding | enzyme binding | insulin-like growth factor binding | signaling receptor activity | identical protein binding | insulin-like growth factor receptor activity | mannose binding | retinoic acid binding | phosphoprotein binding | insulin-like growth factor II binding | G-protein alpha-subunit binding | protein binding http://purl.obolibrary.org/obo/GO_1905394 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005520 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0001972 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0031995 | http://purl.obolibrary.org/obo/GO_0001965 | http://purl.obolibrary.org/obo/GO_0005515 18817523 | | | 7753549 | 22681933 | 10799489 | | | 10900005 | | | 10900005,11387475,11390366,16977309,17850746,18046459,37100772,37219487 http://nanbyodata.jp/ontology/NANDO_2200047 NANDO:2200047 小児慢性特定疾病 Specific pediatric chronic disease 肝細胞癌 Hepatocellular carcinoma MONDO:0007256 exactMatch http://glycosmos.org/glycogene/120227 120227 CYP2R1 iron ion binding | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen | protein homodimerization activity | D3 vitamins binding | heme binding | vitamin D3 25-hydroxylase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0016712 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_1902271 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030343 18511070 | | 18511070 | 18511070 | 18511070 | 15465040,18511070 http://nanbyodata.jp/ontology/NANDO_1201093 NANDO:1201093 指定難病 Designated intractable disease ビタミンD依存症 1B型 Vitamin D-dependent rickets, type 1B MONDO:0010810 exactMatch http://glycosmos.org/glycogene/10320 10320 IKZF1 DNA binding | metal ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | DNA-binding transcription factor activity | protein domain specific binding | zinc ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/10320 10320 IKZF1 DNA binding | metal ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | DNA-binding transcription factor activity | protein domain specific binding | zinc ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0042802 21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/10577 10577 NPC2 protein binding | cholesterol binding | cholesterol transfer activity | enzyme binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0019899 19664597,20674861,22095670,27238017,27940359 | 17018531,18772377,27238017 | 18772377,25339683,27238017 | 15110773 http://nanbyodata.jp/ontology/NANDO_1200065 NANDO:1200065 指定難病 Designated intractable disease 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C MONDO:0016310 exactMatch http://glycosmos.org/glycogene/10528 10528 NOP56 snoRNA binding | protein binding | cadherin binding | histone methyltransferase binding | RNA binding http://purl.obolibrary.org/obo/GO_0030515 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0003723 17636026 | 17636026,30021884,32296183,33961781 | 25468996 | 17636026 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_1200048 NANDO:1200048 指定難病 Designated intractable disease 脊髄小脳失調症36型 Spinocerebellar ataxia type 36 MONDO:0013594 exactMatch http://glycosmos.org/glycogene/10155 10155 TRIM28 DNA binding | protein kinase activity | chromo shadow domain binding | Krueppel-associated box domain binding | protein binding | chromatin binding | RNA binding | transcription corepressor activity | transcription coactivator activity | ubiquitin-protein transferase activity | zinc ion binding | SUMO transferase activity | ubiquitin protein ligase activity | ubiquitin protein ligase binding | promoter-specific chromatin binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0035851 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0019789 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_1990841 9016654 | | 15882967 | 17512541,23665872 | 10330177,11013263,16169070,17512541,17704056,18060868,18675275,18854139,19498464,20424263,20562864,20858735,20864041,20936779,21170338,21277283,21549307,21642969,21888893,22975076,22995936,23034801,23543754,23665872,24018422,24657165,24981860,26496610,27029610,27123980,27705803,31403225,31856708,32051553,33154469,33961781,34819669,35271311,9016654 | 27029610 | 22681889 | 8769649 | | 18082607 | 10653693,11226167 | 17298944 | 36354136 | 18082607 | 24623306 http://nanbyodata.jp/ontology/NANDO_2200043 NANDO:2200043 小児慢性特定疾病 Specific pediatric chronic disease ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 exactMatch http://glycosmos.org/glycogene/22999 22999 RIMS1 metal ion binding | protein binding | small GTPase binding | zinc ion binding | structural constituent of presynaptic active zone | RNA binding | GTPase regulator activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0098882 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0030695 | 11438518,17474147,37207277 | | | | 22658674 | 11438518 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/83394 83394 PITPNM3 phosphatidylinositol transfer activity | calcium ion binding | protein binding | receptor tyrosine kinase binding | lipid binding | phospholipase activity http://purl.obolibrary.org/obo/GO_0008526 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0004620 | 10022914 | 10022914,21481794 | 10022914 | | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/1261 1261 CNGA3 ligand-gated monoatomic ion channel activity | intracellular cGMP-activated cation channel activity | myosin binding | cadherin binding | calcium channel activity | cGMP binding | intracellular cAMP-activated cation channel activity | protein-containing complex binding | protein binding | sodium channel activity http://purl.obolibrary.org/obo/GO_0015276 | http://purl.obolibrary.org/obo/GO_0005223 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005262 | http://purl.obolibrary.org/obo/GO_0030553 | http://purl.obolibrary.org/obo/GO_0005222 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005272 9517456 | 12815043,24164424 | | | | 24164424,37463923 | 12815043 | | 32296183 | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_1200162 NANDO:1200162 指定難病 Designated intractable disease 腎型シスチン症 Nephropathic cystinosis MONDO:0100151 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_1200162 NANDO:1200162 指定難病 Designated intractable disease 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 closeMatch http://glycosmos.org/glycogene/1594 1594 CYP27B1 calcidiol 1-monooxygenase activity | heme binding | secalciferol 1-monooxygenase activity | iron ion binding http://purl.obolibrary.org/obo/GO_0004498 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0062185 | http://purl.obolibrary.org/obo/GO_0005506 15795327,16549446,17023519,22862690,9415400 | | 10518789 | http://nanbyodata.jp/ontology/NANDO_1201092 NANDO:1201092 指定難病 Designated intractable disease ビタミンD依存症 1A型 Vitamin D-dependent rickets, type 1A MONDO:0020723 exactMatch http://glycosmos.org/glycogene/1736 1736 DKC1 box H/ACA snoRNA binding | telomerase RNA binding | protein binding | pseudouridine synthase activity | telomerase activity | RNA binding http://purl.obolibrary.org/obo/GO_0034513 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009982 | http://purl.obolibrary.org/obo/GO_0003720 | http://purl.obolibrary.org/obo/GO_0003723 18082603 | 18082603,20351177,22527283,26950371 | 16601202,16618814,18358808,19179534,19383767,21846770,23685356,24965446,25467444,26496610,28514442,29178645,33961781,35271311 | 25219674 | 12135483,23685356 | 18082603,20351177,22527283,22658674 http://nanbyodata.jp/ontology/NANDO_1200304 NANDO:1200304 指定難病 Designated intractable disease 先天性角化不全症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/1756 1756 DMD dystroglycan binding | structural constituent of cytoskeleton | protein binding | nitric-oxide synthase binding | zinc ion binding | actin binding | myosin binding | vinculin binding | structural constituent of muscle http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0017166 | http://purl.obolibrary.org/obo/GO_0008307 7592992 | 3282674 | 10747910,10767429,16000376,16777071,18468998,19109891,20530487,21115837,25416956,25910212,27225184,28514442,31515488,32296183,33961781,7844150,8576247,9356463 | 7545544 | | 12376554,16803572 | 16803572 | 16803572 | 16000376,3287171 http://nanbyodata.jp/ontology/NANDO_1200488 NANDO:1200488 指定難病 Designated intractable disease デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy MONDO:0010679 exactMatch http://glycosmos.org/glycogene/1756 1756 DMD dystroglycan binding | structural constituent of cytoskeleton | protein binding | nitric-oxide synthase binding | zinc ion binding | actin binding | myosin binding | vinculin binding | structural constituent of muscle http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0017166 | http://purl.obolibrary.org/obo/GO_0008307 7592992 | 3282674 | 10747910,10767429,16000376,16777071,18468998,19109891,20530487,21115837,25416956,25910212,27225184,28514442,31515488,32296183,33961781,7844150,8576247,9356463 | 7545544 | | 12376554,16803572 | 16803572 | 16803572 | 16000376,3287171 http://nanbyodata.jp/ontology/NANDO_1200489 NANDO:1200489 指定難病 Designated intractable disease ベッカー型筋ジストロフィー Becker muscular dystrophy MONDO:0010311 exactMatch http://glycosmos.org/glycogene/10682 10682 EBP cholestenol delta-isomerase activity | C-8 sterol isomerase activity | steroid delta-isomerase activity | identical protein binding | protein binding | cholesterol-5,6-oxide hydrolase activity http://purl.obolibrary.org/obo/GO_0047750 | http://purl.obolibrary.org/obo/GO_0000247 | http://purl.obolibrary.org/obo/GO_0004769 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033963 | | 10391218,10391219,9894009 | 32296183 | 25910212,32296183 | 20615952 http://nanbyodata.jp/ontology/NANDO_1200630 NANDO:1200630 指定難病 Designated intractable disease Conradi-Hünermann-Happle 症候群 Conradi Hünermann Happle syndrome MONDO:0020603 exactMatch http://glycosmos.org/glycogene/24 24 ABCA4 ATP binding | phospholipid transporter activity | retinol transmembrane transporter activity | N-retinylidene-phosphatidylethanolamine flippase activity | ABC-type transporter activity | 11-cis retinal binding | flippase activity | ATPase-coupled transmembrane transporter activity | phosphatidylethanolamine flippase activity | all-trans retinal binding | GTPase activity | ATP hydrolysis activity | ATPase-coupled intramembrane lipid transporter activity | retinoid binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0034632 | http://purl.obolibrary.org/obo/GO_0140347 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005502 | http://purl.obolibrary.org/obo/GO_0140327 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0090555 | http://purl.obolibrary.org/obo/GO_0005503 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0005501 | | | | | 23144455 | 24097981 | | 24097981 | 20404325,29847635,33375396 | | 29847635,33375396 | | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/3815 3815 KIT protein tyrosine kinase collagen receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | vascular endothelial growth factor receptor activity | SH2 domain binding | protein binding | protein tyrosine kinase activity | fibroblast growth factor receptor activity | metal ion binding | boss receptor activity | insulin-like growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | transmembrane-ephrin receptor activity | cytokine binding | growth factor binding | platelet-derived growth factor beta-receptor activity | hepatocyte growth factor receptor activity | insulin receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | protein homodimerization activity | macrophage colony-stimulating factor receptor activity | placental growth factor receptor activity | protease binding http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0002020 | 21640708 | | | | 10377264,10397721,11018522,12878163,1382595,17662946,24728074,25241761,7523381,7537096 | | | | | | | | 21640708 | | | | | | | | | 21640708 | | | http://nanbyodata.jp/ontology/NANDO_2200006 NANDO:2200006 小児慢性特定疾病 Specific pediatric chronic disease 成熟を伴う急性骨髄性白血病 Acute myeloid leukemia with maturation MONDO:0020320 exactMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/3845 3845 KRAS GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0042802 | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715 http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/3848 3848 KRT1 protein binding | protein heterodimerization activity | structural constituent of skin epidermis | carbohydrate binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0038023 11290596,16923132,20562859,24940650,25910212,27595935,32296183,39009827 | 27595935 | 7543090 | 11549596 | 11290596 http://nanbyodata.jp/ontology/NANDO_1200611 NANDO:1200611 指定難病 Designated intractable disease 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 exactMatch http://glycosmos.org/glycogene/3858 3858 KRT10 protein heterodimerization activity | structural constituent of skin epidermis | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515 27595935 | 2459124,7543090 | 19627498,24940650,27595935 http://nanbyodata.jp/ontology/NANDO_1200611 NANDO:1200611 指定難病 Designated intractable disease 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 exactMatch http://glycosmos.org/glycogene/3858 3858 KRT10 protein heterodimerization activity | structural constituent of skin epidermis | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515 27595935 | 2459124,7543090 | 19627498,24940650,27595935 http://nanbyodata.jp/ontology/NANDO_1200612 NANDO:1200612 指定難病 Designated intractable disease 常染色体劣性表皮融解性魚鱗癬 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_1200143 NANDO:1200143 指定難病 Designated intractable disease ウォルマン病 Wolman disease MONDO:0019148 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_1200144 NANDO:1200144 指定難病 Designated intractable disease コレステロールエステル蓄積症 Cholesterol ester storage disease MONDO:0019149 exactMatch http://glycosmos.org/glycogene/25 25 ABL1 actin monomer binding | manganese ion binding | ephrin receptor binding | magnesium ion binding | non-membrane spanning protein tyrosine kinase activity | protein binding | syntaxin binding | neuropilin binding | sequence-specific double-stranded DNA binding | SH3 domain binding | actin filament binding | protein kinase C binding | supercoiled DNA binding | mitogen-activated protein kinase binding | protein kinase activity | SH2 domain binding | transcription coactivator activity | four-way junction DNA binding | protein tyrosine kinase activity | ATP binding | DNA binding | nicotinate-nucleotide adenylyltransferase activity | kinase activity | bubble DNA binding | proline-rich region binding | phosphotyrosine residue binding | delta-catenin binding http://purl.obolibrary.org/obo/GO_0003785 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0097100 | http://purl.obolibrary.org/obo/GO_0051019 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004515 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0070097 20841568 | 9144171 | | 9144171 | 10518561,28428613,9461559 | 11374898,11375976,11418237,11971963,12384576,12893824,15448168,15657060,15696159,15886098,16273093,16397227,16443220,16831423,16888623,17101133,17112510,17318191,17474147,17515907,17626041,17888034,18328268,19234221,19442657,19470755,19914245,20598684,20697350,22286129,22401567,22810897,24412932,24520051,24658140,24728074,24947832,25036101,25852190,27348587,28086240,28514442,30021884,31175292,31980649,32296183,33961781,35271311,36931259,37219487,39009827,39251607,7590236,9144171,9168117,9346925,9461559,9593709 | 23006999 | 24863063 | 9558345 | 7590236 | | 10713049 | 9558345 | 11121037 | 11120811,24863063 | 12384576 | 15865930 | 9558345 | 11121037,12944467,15657060,15657136,17888034,20823226,22810897,24520051,7590236,9144171 | 9144171 | 8242749 | 20841568 | 28288113 | 9558345 | 15657060,7590236 | 20624904 | http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/25 25 ABL1 actin monomer binding | manganese ion binding | ephrin receptor binding | magnesium ion binding | non-membrane spanning protein tyrosine kinase activity | protein binding | syntaxin binding | neuropilin binding | sequence-specific double-stranded DNA binding | SH3 domain binding | actin filament binding | protein kinase C binding | supercoiled DNA binding | mitogen-activated protein kinase binding | protein kinase activity | SH2 domain binding | transcription coactivator activity | four-way junction DNA binding | protein tyrosine kinase activity | ATP binding | DNA binding | nicotinate-nucleotide adenylyltransferase activity | kinase activity | bubble DNA binding | proline-rich region binding | phosphotyrosine residue binding | delta-catenin binding http://purl.obolibrary.org/obo/GO_0003785 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0097100 | http://purl.obolibrary.org/obo/GO_0051019 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004515 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0070097 20841568 | 9144171 | | 9144171 | 10518561,28428613,9461559 | 11374898,11375976,11418237,11971963,12384576,12893824,15448168,15657060,15696159,15886098,16273093,16397227,16443220,16831423,16888623,17101133,17112510,17318191,17474147,17515907,17626041,17888034,18328268,19234221,19442657,19470755,19914245,20598684,20697350,22286129,22401567,22810897,24412932,24520051,24658140,24728074,24947832,25036101,25852190,27348587,28086240,28514442,30021884,31175292,31980649,32296183,33961781,35271311,36931259,37219487,39009827,39251607,7590236,9144171,9168117,9346925,9461559,9593709 | 23006999 | 24863063 | 9558345 | 7590236 | | 10713049 | 9558345 | 11121037 | 11120811,24863063 | 12384576 | 15865930 | 9558345 | 11121037,12944467,15657060,15657136,17888034,20823226,22810897,24520051,7590236,9144171 | 9144171 | 8242749 | 20841568 | 28288113 | 9558345 | 15657060,7590236 | 20624904 | http://nanbyodata.jp/ontology/NANDO_2200013 NANDO:2200013 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄性白血病 Chronic myeloid leukemia MONDO:0011996 exactMatch http://glycosmos.org/glycogene/25 25 ABL1 actin monomer binding | manganese ion binding | ephrin receptor binding | magnesium ion binding | non-membrane spanning protein tyrosine kinase activity | protein binding | syntaxin binding | neuropilin binding | sequence-specific double-stranded DNA binding | SH3 domain binding | actin filament binding | protein kinase C binding | supercoiled DNA binding | mitogen-activated protein kinase binding | protein kinase activity | SH2 domain binding | transcription coactivator activity | four-way junction DNA binding | protein tyrosine kinase activity | ATP binding | DNA binding | nicotinate-nucleotide adenylyltransferase activity | kinase activity | bubble DNA binding | proline-rich region binding | phosphotyrosine residue binding | delta-catenin binding http://purl.obolibrary.org/obo/GO_0003785 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004715 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0097100 | http://purl.obolibrary.org/obo/GO_0051019 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0000400 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0004515 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0070097 20841568 | 9144171 | | 9144171 | 10518561,28428613,9461559 | 11374898,11375976,11418237,11971963,12384576,12893824,15448168,15657060,15696159,15886098,16273093,16397227,16443220,16831423,16888623,17101133,17112510,17318191,17474147,17515907,17626041,17888034,18328268,19234221,19442657,19470755,19914245,20598684,20697350,22286129,22401567,22810897,24412932,24520051,24658140,24728074,24947832,25036101,25852190,27348587,28086240,28514442,30021884,31175292,31980649,32296183,33961781,35271311,36931259,37219487,39009827,39251607,7590236,9144171,9168117,9346925,9461559,9593709 | 23006999 | 24863063 | 9558345 | 7590236 | | 10713049 | 9558345 | 11121037 | 11120811,24863063 | 12384576 | 15865930 | 9558345 | 11121037,12944467,15657060,15657136,17888034,20823226,22810897,24520051,7590236,9144171 | 9144171 | 8242749 | 20841568 | 28288113 | 9558345 | 15657060,7590236 | 20624904 | http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/6731 6731 SRP72 RNA binding | protein binding | 7S RNA binding | signal recognition particle binding | ribosome binding | TPR domain binding http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008312 | http://purl.obolibrary.org/obo/GO_0005047 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0030911 22658674,22681889 | 16672232,24965446,32296183,33961781,35271311 | 27899666 | 17254600 | 27899666 | 27899666 http://nanbyodata.jp/ontology/NANDO_1200301 NANDO:1200301 指定難病 Designated intractable disease MDSとの境界型 Borderline between aplastic anemia and MDS MONDO:0013851 closeMatch http://glycosmos.org/glycogene/6760 6760 SS18 transcription coactivator activity | protein binding | nuclear receptor coactivator activity http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030374 15919756 | 15919756,22439931 | http://nanbyodata.jp/ontology/NANDO_2200061 NANDO:2200061 小児慢性特定疾病 Specific pediatric chronic disease 滑膜肉腫 Synovial sarcoma MONDO:0010434 exactMatch http://glycosmos.org/glycogene/6774 6774 STAT3 protein dimerization activity | RNA sequestering activity | nuclear receptor activity | protein kinase binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity | protein homodimerization activity | RNA binding | protein sequestering activity | lncRNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | chromatin DNA binding | identical protein binding | primary miRNA binding | protein phosphatase binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor binding | signaling adaptor activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0140610 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070878 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005102 | 31507089 | 17324931 | | 17324931 | 10688651,11536047,11585385,11940572,11970898,12867595,14966128,15286705,15657067,15764709,15821101,15998644,16273093,16306601,16331268,16364321,16531398,16568091,18200042,18234692,18330356,19345327,19372587,20133729,20826784,20871632,20876300,20929579,21184768,21516116,21643014,21953450,21988832,23416296,23684459,24135280,24172987,24189400,24396070,24658140,25065853,25241761,25402766,25416956,25476455,25609649,25814554,26966684,28065600,29892012,30413785,31515488,31899195,31980649,32296183,32814053,32852592,32911434,33961781,35140242,38844957,8662591,9864141 | 22783022,24429361,28467929 | 15653507,16285960,17344214,18782771,28781374,7543512,7568001,9535918 | 15653507 | 31507089 | | 24744378 | 17344214,32929201,38404237 | 17344214 | 17676033,21988832,25609649,7510216 | 31507089 | 12359225,17360477 | 16835372,16946298,31886314 | | 19390056 | 15664994 | 31145836 | 31145836 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/6777 6777 STAT5B protein homodimerization activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | protein dimerization activity | identical protein binding | DNA-binding transcription factor activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | nuclear glucocorticoid receptor binding | chromatin binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0003682 29844444 | | 21106534,31175292,32296183,33961781,9989503 | | 31175292 | 8631883 | | 29844444 | 12552091 | http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/23451 23451 SF3B1 mRNA binding | protein binding | RNA binding | splicing factor binding http://purl.obolibrary.org/obo/GO_0003729 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_1990935 | 16432215,17332742,17589525,19515850,21062891,22365833,26575292,27720643,28514442,30567737,33961781,35271311,37207277,37219487 | 22658674,22681889,27720643 | 16376933,27720643 http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/6820 6820 SULT2B1 small molecule binding | sulfotransferase activity | steroid hormone binding | cholesterol sulfotransferase activity | protein binding | steroid sulfotransferase activity | cholesterol binding | nucleic acid binding http://purl.obolibrary.org/obo/GO_0036094 | http://purl.obolibrary.org/obo/GO_0008146 | http://purl.obolibrary.org/obo/GO_1990239 | http://purl.obolibrary.org/obo/GO_0051922 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050294 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0003676 12923182 | | 12923182 | | 16189514,19060904,25416956,25910212,31515488,32296183,33961781 | 12145317,12923182,9799594 | 12923182 | 12923182 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/6897 6897 TARS1 threonine-tRNA ligase activity | tRNA binding | ATP binding | protein binding | identical protein binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0004829 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008270 25824639 | | 25824639 | 25416956,32296183,32814053 | 25824639 | 25824639 http://nanbyodata.jp/ontology/NANDO_1200627 NANDO:1200627 指定難病 Designated intractable disease 硫黄欠乏性毛髪発育異常症 Trichothiodystrophy MONDO:0018053 exactMatch http://glycosmos.org/glycogene/6929 6929 TCF3 bHLH transcription factor binding | mitogen-activated protein kinase kinase kinase binding | protein binding | E-box binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein heterodimerization activity | DNA-binding transcription factor activity | DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | vitamin D response element binding | cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043425 | http://purl.obolibrary.org/obo/GO_0031435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0070644 | http://purl.obolibrary.org/obo/GO_0000987 10545951,10749989,10775504,21828274 | 19801649 | 10652346,10749989,10915743,10958665,11248247,11802795,11940670,12435739,14752053,19321746,19497860,21179004,21828274,25009770,25416956,25466284,31696227,32296183,32814053,33961781,35140242,7568177,8759016 | 10652346,10775504,15044608,7933101 | 10652346 | 12493738,15044608,21828274,2503252 | 11802795 | 10652346,10958665,14752053,8759016 | 10652346,10775504,14752053,15509787 | 14576336 | | 10545951,14752053 | 11509675,11802795,12435739,2105528,2493990 | 10958665,2503252,8759016 | 14576336 | 17426122 | 21828274 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/6929 6929 TCF3 bHLH transcription factor binding | mitogen-activated protein kinase kinase kinase binding | protein binding | E-box binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein heterodimerization activity | DNA-binding transcription factor activity | DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | vitamin D response element binding | cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0043425 | http://purl.obolibrary.org/obo/GO_0031435 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0070644 | http://purl.obolibrary.org/obo/GO_0000987 10545951,10749989,10775504,21828274 | 19801649 | 10652346,10749989,10915743,10958665,11248247,11802795,11940670,12435739,14752053,19321746,19497860,21179004,21828274,25009770,25416956,25466284,31696227,32296183,32814053,33961781,35140242,7568177,8759016 | 10652346,10775504,15044608,7933101 | 10652346 | 12493738,15044608,21828274,2503252 | 11802795 | 10652346,10958665,14752053,8759016 | 10652346,10775504,14752053,15509787 | 14576336 | | 10545951,14752053 | 11509675,11802795,12435739,2105528,2493990 | 10958665,2503252,8759016 | 14576336 | 17426122 | 21828274 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/60528 60528 ELAC2 RNA binding | RNA endonuclease activity | tRNA-specific ribonuclease activity | metal ion binding | 3'-tRNA processing endoribonuclease activity http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004521 | http://purl.obolibrary.org/obo/GO_0004549 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042781 22658674,22681889 | | 12711671,15317868,16361254,18809514,21559454,21593607 | | http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100224 closeMatch http://glycosmos.org/glycogene/23092 23092 ARHGAP26 GTPase activator activity | phospholipid binding | protein-macromolecule adaptor activity | protein binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 10908648 | 18954304 | 38081847 | 11432776,25416956,26871637,32344433,32707033 http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/23092 23092 ARHGAP26 GTPase activator activity | phospholipid binding | protein-macromolecule adaptor activity | protein binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0005515 10908648 | 18954304 | 38081847 | 11432776,25416956,26871637,32344433,32707033 http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/23093 23093 TTLL5 ATP binding | protein-glutamic acid ligase activity, elongating | metal ion binding | tubulin-glutamic acid ligase activity | protein-glutamic acid ligase activity, initiating | tubulin binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106438 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070740 | http://purl.obolibrary.org/obo/GO_0106437 | http://purl.obolibrary.org/obo/GO_0015631 | | | | | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/359948 359948 IRF2BP2 transcription corepressor activity | zinc ion binding | metal ion binding http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 12799427 | | http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/64859 64859 NABP1 single-stranded DNA binding | RNA binding | DNA binding | protein binding http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | | | 19683501,25416956,32296183 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/348938 348938 NIPAL4 magnesium ion transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015095 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200616 NANDO:1200616 指定難病 Designated intractable disease 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma MONDO:0019306 exactMatch http://glycosmos.org/glycogene/348938 348938 NIPAL4 magnesium ion transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015095 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/348938 348938 NIPAL4 magnesium ion transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015095 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0019306 closeMatch http://glycosmos.org/glycogene/284184 284184 NDUFAF8 protein binding http://purl.obolibrary.org/obo/GO_0005515 27499296,28514442,33961781 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/2115 2115 ETV1 protein binding | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 21572435,21575865,32911434,33961781 | 7700648 | 12750007 | 12750007 | 28473536 | http://nanbyodata.jp/ontology/NANDO_2200053 NANDO:2200053 小児慢性特定疾病 Specific pediatric chronic disease ユーイング肉腫 Ewing's sarcoma MONDO:0012817 exactMatch http://glycosmos.org/glycogene/2122 2122 MECOM RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K9me2 methyltransferase activity | histone H3K9 monomethyltransferase activity | zinc ion binding | DNA-binding transcription factor activity | protein homodimerization activity | histone H3K9 methyltransferase activity | protein binding | DNA binding | histone H3 methyltransferase activity | DNA-binding transcription activator activity, RNA polymerase II-specific | metal ion binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0046872 | | | | 19767769 | 15897867 | | 10856240,11328817,11568182,15897867,17635584,21555002,22308434,25814554,30462309,32296183,32814053 | | | | http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/2130 2130 EWSR1 protein binding | transcription coregulator activity | identical protein binding | RNA binding | zinc ion binding | metal ion binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005516 16189514,16713569,18320585,18347058,18509338,21988832,23455924,23975937,25416956,25910212,29892012,31515488,32814053 | | 21988832,23975937 | 22658674,22681889 | | | http://nanbyodata.jp/ontology/NANDO_2200053 NANDO:2200053 小児慢性特定疾病 Specific pediatric chronic disease ユーイング肉腫 Ewing's sarcoma MONDO:0012817 exactMatch http://glycosmos.org/glycogene/2130 2130 EWSR1 protein binding | transcription coregulator activity | identical protein binding | RNA binding | zinc ion binding | metal ion binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005516 16189514,16713569,18320585,18347058,18509338,21988832,23455924,23975937,25416956,25910212,29892012,31515488,32814053 | | 21988832,23975937 | 22658674,22681889 | | | http://nanbyodata.jp/ontology/NANDO_2200059 NANDO:2200059 小児慢性特定疾病 Specific pediatric chronic disease 線維形成性小円形細胞腫瘍 Desmoplastic small round cell tumors MONDO:0019373 exactMatch http://glycosmos.org/glycogene/2313 2313 FLI1 DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | 1522903 | 10891501 | 28473536 | | 31146003 | 20211142,25416956 | | http://nanbyodata.jp/ontology/NANDO_2200053 NANDO:2200053 小児慢性特定疾病 Specific pediatric chronic disease ユーイング肉腫 Ewing's sarcoma MONDO:0012817 exactMatch http://glycosmos.org/glycogene/2313 2313 FLI1 DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | 1522903 | 10891501 | 28473536 | | 31146003 | 20211142,25416956 | | http://nanbyodata.jp/ontology/NANDO_2200054 NANDO:2200054 小児慢性特定疾病 Specific pediatric chronic disease 未分化神経外胚葉性腫瘍（末梢性のものに限る。） Primitive neuroectodermal tumors MONDO:0018271 closeMatch http://glycosmos.org/glycogene/2313 2313 FLI1 DNA-binding transcription factor activity, RNA polymerase II-specific | DNA binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | chromatin binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682 | 1522903 | 10891501 | 28473536 | | 31146003 | 20211142,25416956 | | http://nanbyodata.jp/ontology/NANDO_2200055 NANDO:2200055 小児慢性特定疾病 Specific pediatric chronic disease 末梢性未分化神経外胚葉性腫瘍 Peripheral primitive neuroectodermal tumors MONDO:0018271 exactMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200006 NANDO:2200006 小児慢性特定疾病 Specific pediatric chronic disease 成熟を伴う急性骨髄性白血病 Acute myeloid leukemia with maturation MONDO:0020320 exactMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200018 NANDO:2200018 小児慢性特定疾病 Specific pediatric chronic disease 混合型急性白血病 Mixed phenotype acute leukemia MONDO:0020743 exactMatch http://glycosmos.org/glycogene/2322 2322 FLT3 growth factor binding | protein binding | placental growth factor receptor activity | protein tyrosine kinase activity | protein-containing complex binding | epidermal growth factor receptor activity | insulin receptor activity | nuclear glucocorticoid receptor binding | platelet-derived growth factor beta-receptor activity | phosphatidylinositol 3-kinase activator activity | vascular endothelial growth factor receptor activity | GPI-linked ephrin receptor activity | macrophage colony-stimulating factor receptor activity | transmembrane-ephrin receptor activity | brain-derived neurotrophic factor receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | boss receptor activity | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | protein tyrosine kinase collagen receptor activity | ATP binding | cytokine receptor activity http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0141038 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004896 | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/2548 2548 GAA carbohydrate binding | alpha-glucosidase activity | alpha-1,4-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0004558 | 5264799 | 29061980,9505277 http://nanbyodata.jp/ontology/NANDO_1200139 NANDO:1200139 指定難病 Designated intractable disease 乳児型ポンペ病 Classic infantile Pompe disease MONDO:0017694 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_1200075 NANDO:1200075 指定難病 Designated intractable disease 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_1200077 NANDO:1200077 指定難病 Designated intractable disease 成人型クラッベ病 Adult Krabbe disease MONDO:0016091 exactMatch http://glycosmos.org/glycogene/2624 2624 GATA2 zinc ion binding | sequence-specific double-stranded DNA binding | transcription coregulator binding | C2H2 zinc finger domain binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coactivator binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity | chromatin binding | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0070742 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000981 | 28473536 | 12483298 | 12483298 | | | 15016828 | 10938104,16153155,18250304,20211142,20705609,21988832,23887938,25416956,31515488,32296183,32814053,35140242,7568177 | | 15016828,20206639 | 19242469 | 27780851 http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/2625 2625 GATA3 transcription coactivator binding | DNA binding | HMG box domain binding | protein binding | sequence-specific double-stranded DNA binding | E-box binding | zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | cis-regulatory region sequence-specific DNA binding | identical protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity | histone methyltransferase binding | transcription cis-regulatory region binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | interleukin-2 receptor binding | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0071837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005134 | http://purl.obolibrary.org/obo/GO_0000981 | 1871134 | 18445004 | 15662016,17075044,19674970,19723756,20484083,25416956,25910212,26028330,26871637,26899996,28263977,32296183,32814053 | 28473536 | 20855495 | | 19674970 | 19232384 | | 15016828 | 19232384,19674970,19805038,20189993,20368097 | | 19723756,19735555,19805038,20189993,20484083 | 2017177 | 19674970 | | 20484083 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/2625 2625 GATA3 transcription coactivator binding | DNA binding | HMG box domain binding | protein binding | sequence-specific double-stranded DNA binding | E-box binding | zinc ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | cis-regulatory region sequence-specific DNA binding | identical protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity | histone methyltransferase binding | transcription cis-regulatory region binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription repressor activity, RNA polymerase II-specific | interleukin-2 receptor binding | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0071837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005134 | http://purl.obolibrary.org/obo/GO_0000981 | 1871134 | 18445004 | 15662016,17075044,19674970,19723756,20484083,25416956,25910212,26028330,26871637,26899996,28263977,32296183,32814053 | 28473536 | 20855495 | | 19674970 | 19232384 | | 15016828 | 19232384,19674970,19805038,20189993,20368097 | | 19723756,19735555,19805038,20189993,20484083 | 2017177 | 19674970 | | 20484083 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/2652 2652 OPN1MW G protein-coupled photoreceptor activity | photoreceptor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0008020 | http://purl.obolibrary.org/obo/GO_0009881 | http://purl.obolibrary.org/obo/GO_0042802 | 8185948 | 28402104 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/2782 2782 GNB1 GTPase binding | GTPase activity | protein binding | signaling receptor complex adaptor activity | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0051020 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0044877 19255495 | 1543505 | 16782902,17500595,23739333,25036637,25416956,28437792,32296183,32528175,32814053,33961781,35271311 | | 23209302 http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/2719 2719 GPC3 protein binding | peptidyl-dipeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0060422 17549790,29162697 | 17549790 http://nanbyodata.jp/ontology/NANDO_2200043 NANDO:2200043 小児慢性特定疾病 Specific pediatric chronic disease ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 exactMatch http://glycosmos.org/glycogene/23600 23600 AMACR alpha-methylacyl-CoA racemase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0008111 | http://purl.obolibrary.org/obo/GO_0005102 10655068,11060359,7649182 | 11060344 http://nanbyodata.jp/ontology/NANDO_1200768 NANDO:1200768 指定難病 Designated intractable disease ２-メチルアシルCoAラセマーゼ欠損症 Alpha-methylacyl-CoA racemase deficiency MONDO:0013681 exactMatch http://glycosmos.org/glycogene/2961 2961 GTF2E2 DNA binding | TFIIH-class transcription factor complex binding | RNA binding | RNA polymerase II general transcription initiation factor activity | protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001097 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0016251 | http://purl.obolibrary.org/obo/GO_0005515 | | 22658674 | 27193682 | 16547462,21988832,28514442,32296183,33961781,7926747,8999876,9271120 http://nanbyodata.jp/ontology/NANDO_1200627 NANDO:1200627 指定難病 Designated intractable disease 硫黄欠乏性毛髪発育異常症 Trichothiodystrophy MONDO:0018053 exactMatch http://glycosmos.org/glycogene/4125 4125 MAN2B1 carbohydrate binding | alpha-mannosidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872 | | http://nanbyodata.jp/ontology/NANDO_1200127 NANDO:1200127 指定難病 Designated intractable disease 乳児型α - マンノシドーシス Alpha-mannosidosis, infantile form MONDO:0017732 exactMatch http://glycosmos.org/glycogene/4125 4125 MAN2B1 carbohydrate binding | alpha-mannosidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872 | | http://nanbyodata.jp/ontology/NANDO_1200128 NANDO:1200128 指定難病 Designated intractable disease 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form MONDO:0017733 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2200017 NANDO:2200017 小児慢性特定疾病 Specific pediatric chronic disease 急性未分化型白血病 Acute undifferentiated leukemia MONDO:0020321 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2200018 NANDO:2200018 小児慢性特定疾病 Specific pediatric chronic disease 混合型急性白血病 Mixed phenotype acute leukemia MONDO:0020743 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/4537 4537 ND3 protein binding | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008137 16384638,32320651,33753518 | 25118196,3921850 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/4668 4668 NAGA alpha-N-acetylgalactosaminidase activity | protein homodimerization activity | alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0008456 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004557 19683538 | 19683538 | http://nanbyodata.jp/ontology/NANDO_1200135 NANDO:1200135 指定難病 Designated intractable disease シンドラー病I型 Schindler disease type I MONDO:0012221 exactMatch http://glycosmos.org/glycogene/4668 4668 NAGA alpha-N-acetylgalactosaminidase activity | protein homodimerization activity | alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0008456 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004557 19683538 | 19683538 | http://nanbyodata.jp/ontology/NANDO_1200136 NANDO:1200136 指定難病 Designated intractable disease シンドラー病II型 Schindler disease type 2 MONDO:0012222 exactMatch http://glycosmos.org/glycogene/4668 4668 NAGA alpha-N-acetylgalactosaminidase activity | protein homodimerization activity | alpha-galactosidase activity http://purl.obolibrary.org/obo/GO_0008456 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004557 19683538 | 19683538 | http://nanbyodata.jp/ontology/NANDO_1200137 NANDO:1200137 指定難病 Designated intractable disease シンドラー病III型 Schindler disease type 3 MONDO:0019264 exactMatch http://glycosmos.org/glycogene/4719 4719 NDUFS1 NADH dehydrogenase (ubiquinone) activity | 4 iron, 4 sulfur cluster binding | 2 iron, 2 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0051537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 15824269,16478720,16870178,30879903,31557978,9878551 | | | 15186778,30879903,32807793,32814053 | | 1935949 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100224 closeMatch http://glycosmos.org/glycogene/4719 4719 NDUFS1 NADH dehydrogenase (ubiquinone) activity | 4 iron, 4 sulfur cluster binding | 2 iron, 2 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0051537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 15824269,16478720,16870178,30879903,31557978,9878551 | | | 15186778,30879903,32807793,32814053 | | 1935949 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/4720 4720 NDUFS2 oxygen sensor activity | 4 iron, 4 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity | ubiquitin protein ligase binding | NAD binding | NADH dehydrogenase (ubiquinone) activity | NADH dehydrogenase activity | quinone binding http://purl.obolibrary.org/obo/GO_0019826 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0048038 30922174 | | 15250827,19463981,19688755,20406883,24089531,24344204,27499296,28514442,32807793,33961781 | | 9647766 | 19725078 | | 22036843,28031252,30922174,9647766,9878551 | 14749350 | http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/4722 4722 NDUFS3 NADH dehydrogenase activity | protein binding | electron transfer activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0008137 11112787,16826196 | 15250827,19463981,19688755,19822128,21310150,24344204,27499296,28514442,31536960,32296183,32814053,33961781 | 9647766 | 14729820,30140060,9647766,9878551 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_1200117 NANDO:1200117 指定難病 Designated intractable disease シアリドーシスI型 Sialidosis type 1 MONDO:0019346 exactMatch http://glycosmos.org/glycogene/4763 4763 NF1 GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031210 1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824 http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/4763 4763 NF1 GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008429 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031210 1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824 http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/4864 4864 NPC1 protein binding | cholesterol transfer activity | transmembrane signaling receptor activity | virus receptor activity | lipid transporter activity | cholesterol binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0038023 16757520,19583955,20674861,25285302,26771495,27238017,28336668,34450201,34799735 | 9927649 | 10521290 | | | 18772377 | 9211849 http://nanbyodata.jp/ontology/NANDO_1200065 NANDO:1200065 指定難病 Designated intractable disease 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C MONDO:0016310 exactMatch http://glycosmos.org/glycogene/4869 4869 NPM1 NF-kappaB binding | core promoter sequence-specific DNA binding | transcription coactivator activity | ribosomal large subunit binding | protein kinase inhibitor activity | rRNA binding | RNA binding | molecular adaptor activity | ribosomal small subunit binding | chromatin binding | protein kinase binding | Tat protein binding | DNA-binding transcription factor binding | unfolded protein binding | protein homodimerization activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043023 | http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0019843 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 15087454 | 19160485 | 15087454,19160485 | 18809582 | 12882984 | 24106084 | 12058066,22658674,22681889 | 38231884 | 18809582 | | 20352051 | 9094689 | 19160485 | 10211837 | 24106084,9121481 | 12080348,12882984,15144954,15161933,15184379,15989956,16376884,16540653,16648475,16957780,17015463,17318229,17438371,17475909,17535915,17602943,18243139,18259216,18420587,19160485,19188445,19410545,20075868,20080577,20159986,20208519,20618440,20701745,21326211,21822216,21988832,22510990,22528486,22712502,22720776,23019224,23816991,23892143,23972994,24462683,24857377,25416956,25956029,26496610,26871637,28255170,28611246,29568061,30021884,31515488,32296183,32814053,33961781,35271311,35709258,38029384,39251607 | 11602260 http://nanbyodata.jp/ontology/NANDO_1200304 NANDO:1200304 指定難病 Designated intractable disease 先天性角化不全症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/4869 4869 NPM1 NF-kappaB binding | core promoter sequence-specific DNA binding | transcription coactivator activity | ribosomal large subunit binding | protein kinase inhibitor activity | rRNA binding | RNA binding | molecular adaptor activity | ribosomal small subunit binding | chromatin binding | protein kinase binding | Tat protein binding | DNA-binding transcription factor binding | unfolded protein binding | protein homodimerization activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043023 | http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0019843 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 15087454 | 19160485 | 15087454,19160485 | 18809582 | 12882984 | 24106084 | 12058066,22658674,22681889 | 38231884 | 18809582 | | 20352051 | 9094689 | 19160485 | 10211837 | 24106084,9121481 | 12080348,12882984,15144954,15161933,15184379,15989956,16376884,16540653,16648475,16957780,17015463,17318229,17438371,17475909,17535915,17602943,18243139,18259216,18420587,19160485,19188445,19410545,20075868,20080577,20159986,20208519,20618440,20701745,21326211,21822216,21988832,22510990,22528486,22712502,22720776,23019224,23816991,23892143,23972994,24462683,24857377,25416956,25956029,26496610,26871637,28255170,28611246,29568061,30021884,31515488,32296183,32814053,33961781,35271311,35709258,38029384,39251607 | 11602260 http://nanbyodata.jp/ontology/NANDO_2200006 NANDO:2200006 小児慢性特定疾病 Specific pediatric chronic disease 成熟を伴う急性骨髄性白血病 Acute myeloid leukemia with maturation MONDO:0020320 exactMatch http://glycosmos.org/glycogene/4869 4869 NPM1 NF-kappaB binding | core promoter sequence-specific DNA binding | transcription coactivator activity | ribosomal large subunit binding | protein kinase inhibitor activity | rRNA binding | RNA binding | molecular adaptor activity | ribosomal small subunit binding | chromatin binding | protein kinase binding | Tat protein binding | DNA-binding transcription factor binding | unfolded protein binding | protein homodimerization activity | protein binding | histone binding http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0043023 | http://purl.obolibrary.org/obo/GO_0004860 | http://purl.obolibrary.org/obo/GO_0019843 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0043024 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030957 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393 15087454 | 19160485 | 15087454,19160485 | 18809582 | 12882984 | 24106084 | 12058066,22658674,22681889 | 38231884 | 18809582 | | 20352051 | 9094689 | 19160485 | 10211837 | 24106084,9121481 | 12080348,12882984,15144954,15161933,15184379,15989956,16376884,16540653,16648475,16957780,17015463,17318229,17438371,17475909,17535915,17602943,18243139,18259216,18420587,19160485,19188445,19410545,20075868,20080577,20159986,20208519,20618440,20701745,21326211,21822216,21988832,22510990,22528486,22712502,22720776,23019224,23816991,23892143,23972994,24462683,24857377,25416956,25956029,26496610,26871637,28255170,28611246,29568061,30021884,31515488,32296183,32814053,33961781,35271311,35709258,38029384,39251607 | 11602260 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/4893 4893 NRAS GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/4893 4893 NRAS GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0019003 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0003925 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005525 30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/4926 4926 NUMA1 protein binding | microtubule minus-end binding | protein-containing complex binding | microtubule plus-end binding | structural molecule activity | tubulin binding | protein domain specific binding | dynein complex binding | microtubule binding | disordered domain specific binding | phosphatidylinositol binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051011 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0051010 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0070840 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_0035091 11590136,11781568,12080061,12445386,15537540,16076287,17172455,20109190,21044950,21816348,22153077,22327364,23665171,23870127,24996901,25416956,26195665,27462074,30021884,33961781,35271311 | 26765568 | 11590136 | 26765568 | 1541630 | 11956313 | 22074847 | 10811826,17172455,22327364,23027904,26195665 | 11956313,12445386,27462074 | 20109190 | 24371089,24996901 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/7030 7030 TFE3 DNA-binding transcription factor activity | transcription cis-regulatory region binding | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | sequence-specific double-stranded DNA binding | protein dimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005515 24448649 | | 24448649 | | | 28473536 | | 15507434,26168401,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2200063 NANDO:2200063 小児慢性特定疾病 Specific pediatric chronic disease 胞巣状軟部肉腫 Alveolar soft part sarcoma MONDO:0011655 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/7157 7157 TP53 receptor tyrosine kinase binding | protein phosphatase 2A binding | DNA-binding transcription activator activity, RNA polymerase II-specific | cis-regulatory region sequence-specific DNA binding | enzyme binding | zinc ion binding | ATP-dependent DNA/DNA annealing activity | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | mRNA 3'-UTR binding | molecular condensate scaffold activity | disordered domain specific binding | promoter-specific chromatin binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | ubiquitin protein ligase binding | protein-folding chaperone binding | general transcription initiation factor binding | RNA polymerase II-specific DNA-binding transcription factor binding | molecular function activator activity | TFIID-class transcription factor complex binding | transcription cis-regulatory region binding | protease binding | histone deacetylase binding | 14-3-3 protein binding | copper ion binding | chromatin binding | identical protein binding | MDM2/MDM4 family protein binding | core promoter sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity | p53 binding | DNA binding | protein binding | histone deacetylase regulator activity http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0051721 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0036310 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0097718 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0001094 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0097371 | http://purl.obolibrary.org/obo/GO_0001046 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035033 23027130 | 17245430 | 12609999,17145718,17146433,22578566 | 10329733 | 17805299 | 10065153 | 8183576 | 17310983,24289924,24652652,34381247,35618207,36634798,38653238 | 22578566,24289924 | 16213212 | 31953488,35618207,36108750,36634798,38653238 | 15629713 | 20725088,24356969 | 10329733 | 8875929 | 15358771,18086682 | 15053879 | 15705871,18549481,19505873,23329847 | 14759370,16793543,7559631 | 24289924 | 15710329,16131611,17996705 | 11923872 | 23629966 | 20206173 | 7824276 | 16322561,17599062 | 10876243,14759370,14985081,15629713,16291740,16461914,17612295,17620598,18087040,19011621,19339993,19667193,20004160,20159469,20364130,21178074,21522129,21988832,22653443,22972749,25402006,25609649,31837246 | | 23629966 | 10837489 | 16479015,18549481,7587074 | 25417702 | 15358771,15629713,2144364 | 10196247,10226625,10415337,10518217,10597287,10608892,10666337,10823891,11080164,11146555,11178989,11359905,11388671,11427532,11546806,11672523,11684014,11706030,11781842,11861836,11877378,11950834,12006491,12080348,12620801,12667443,12692135,12702766,12730672,12750254,12915590,14557665,14627987,1465435,14744935,14759370,14963330,14985081,15044383,15068796,15133049,15144954,15205477,15310821,15364927,15525938,15542844,15577914,15580310,15604276,15660129,15687255,15710329,15735003,15735006,15782130,15855171,15916963,15960975,15989956,16003391,16151013,16169070,16189514,16227626,16319068,16322561,16376338,16376884,16377624,16402859,16415881,16432196,16442532,16443602,16474402,16493710,16601686,16611888,16616141,16690937,16713569,16732283,16753148,16793543,16845383,16847267,16951253,16959611,17080083,17098746,17108971,17121812,17139261,17145718,17159902,17170702,17184779,17237821,17245430,17254968,17268548,17274640,17290220,17298945,17310983,17317671,17347673,17438265,17470788,17482142,17568776,17612295,17662718,17707234,17719541,17719542,17805299,17875722,17904127,17906639,17964266,18087040,18172499,18230339,18235501,18235502,18275817,18309296,18316739,18354501,18382127,18388957,18391200,18485870,18504427,18510931,18566590,18624398,18656471,18690848,18695251,18812399,18952844,18977328,19008854,19011621,19043414,19098711,19151705,19166840,19196987,19217391,19234109,19255450,19339993,19345189,19411066,19433796,19483087,19508870,19521340,19536131,19556538,19619542,19626115,19651603,19656744,19680552,19684601,19740107,19798103,19805293,19833129,19857493,19933256,20075864,20096447,20118233,20123734,20124405,20134482,20153329,20159018,20167603,20173098,20206173,20227041,20228809,20385133,20421506,20452352,20515689,20534433,20562916,20591429,20622899,20660729,20705607,20708156,20713054,20818423,20864041,20959462,21057547,21078964,21081126,21130767,21132010,21170034,21170087,21245319,21317932,21390126,21397192,21423215,21460856,21471221,21513714,21597459,21625211,21653829,21670263,21726810,21741598,21782458,21821029,21831840,21857681,21892170,21900206,21952639,21988832,22056774,22085928,22103682,22124327,22265415,22340593,22451927,22499945,22510990,22522597,22575647,22653443,22659184,22723347,22726440,22810585,22810586,22819825,22945289,22975381,23010591,23063560,23092970,23320542,23431171,23576507,23623661,23734815,23752197,23776060,23870121,24207125,24219989,24380853,24449765,24492002,24625977,24667498,24722188,24814347,25168243,25241761,25314079,25402006,25422469,25502805,25579814,25591766,25609649,25651062,25670079,25837623,25857266,26302407,26331536,26789255,27107012,27323408,27519799,27605672,28842590,29187402,29340707,29628311,29997244,31467278,31511497,31515488,31837246,32606738,32814053,33591310,33961781,34316702,34404770,34591612,34591642,35044719,35122041,35140242,35271311,36931259,39009827,7663514,7799929,8207801,8344494,8675009,8875926,8875929,9050995,9188558,9194564,9194565,9380510,9472015,9529249,9733515,9807817,9827557 | http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/9319 9319 TRIP13 protein binding | ATP binding | identical protein binding | transcription coregulator activity | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003712 | http://purl.obolibrary.org/obo/GO_0016887 16169070,16189514,19060904,21516116,24722188,25416956,25910212,26871637,29892012,31515488,32296183 | 9223484 | 16169070,16189514,25416956,32296183 | 7776974 | http://nanbyodata.jp/ontology/NANDO_2200043 NANDO:2200043 小児慢性特定疾病 Specific pediatric chronic disease ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 exactMatch http://glycosmos.org/glycogene/79058 79058 ASPSCR1 protein binding http://purl.obolibrary.org/obo/GO_0005515 18775313,21900206,23349634,25416956,26496610,29997244,31515488,32296183,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2200063 NANDO:2200063 小児慢性特定疾病 Specific pediatric chronic disease 胞巣状軟部肉腫 Alveolar soft part sarcoma MONDO:0011655 exactMatch http://glycosmos.org/glycogene/92211 92211 CDHR1 calcium ion binding http://purl.obolibrary.org/obo/GO_0005509 "" http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/80025 80025 PANK2 protein binding | pantothenate kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004594 | http://purl.obolibrary.org/obo/GO_0005524 15161933,32814053,35271311 | 15659606,16272150,17242360,22221393 | http://nanbyodata.jp/ontology/NANDO_1200535 NANDO:1200535 指定難病 Designated intractable disease パントテン酸キナーゼ変異に伴う神経変性症（古典型） Classic pantothenate kinase-associated neurodegeneration MONDO:0016304 exactMatch http://glycosmos.org/glycogene/80025 80025 PANK2 protein binding | pantothenate kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004594 | http://purl.obolibrary.org/obo/GO_0005524 15161933,32814053,35271311 | 15659606,16272150,17242360,22221393 | http://nanbyodata.jp/ontology/NANDO_1200536 NANDO:1200536 指定難病 Designated intractable disease パントテン酸キナーゼ変異に伴う神経変性症（非典型例） Atypical pantothenate kinase-associated neurodegeneration MONDO:0016305 exactMatch http://glycosmos.org/glycogene/84868 84868 HAVCR2 metal ion binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 | 16286920 | 25363763,32296183,34110282 http://nanbyodata.jp/ontology/NANDO_2200030 NANDO:2200030 小児慢性特定疾病 Specific pediatric chronic disease 皮下脂肪織炎様T細胞リンパ腫 Sucutaneous panniculitis-like T-cell lymphoma MONDO:0019475 exactMatch http://glycosmos.org/glycogene/79158 79158 GNPTAB protein binding | calcium ion binding | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003976 25416956,26385638,28514442,33961781,36074821 | | 19955174,23733939,25505245,25788519 http://nanbyodata.jp/ontology/NANDO_1200125 NANDO:1200125 指定難病 Designated intractable disease ムコリピドーシスIII型 Mucolipidosis III MONDO:0018931 exactMatch http://glycosmos.org/glycogene/242 242 ALOX12B iron ion binding | isomerase activity | linoleate 9S-lipoxygenase activity | lyase activity | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | arachidonate 12(S)-lipoxygenase activity | arachidonate 8(R)-lipoxygenase activity | arachidonate 12(R)-lipoxygenase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_1990136 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0016702 | http://purl.obolibrary.org/obo/GO_0004052 | http://purl.obolibrary.org/obo/GO_0047677 | http://purl.obolibrary.org/obo/GO_0106237 | | | | 21558561 | 15629692 | | http://nanbyodata.jp/ontology/NANDO_1200616 NANDO:1200616 指定難病 Designated intractable disease 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma MONDO:0019306 exactMatch http://glycosmos.org/glycogene/242 242 ALOX12B iron ion binding | isomerase activity | linoleate 9S-lipoxygenase activity | lyase activity | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | arachidonate 12(S)-lipoxygenase activity | arachidonate 8(R)-lipoxygenase activity | arachidonate 12(R)-lipoxygenase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_1990136 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0016702 | http://purl.obolibrary.org/obo/GO_0004052 | http://purl.obolibrary.org/obo/GO_0047677 | http://purl.obolibrary.org/obo/GO_0106237 | | | | 21558561 | 15629692 | | http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/242 242 ALOX12B iron ion binding | isomerase activity | linoleate 9S-lipoxygenase activity | lyase activity | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | arachidonate 12(S)-lipoxygenase activity | arachidonate 8(R)-lipoxygenase activity | arachidonate 12(R)-lipoxygenase activity http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_1990136 | http://purl.obolibrary.org/obo/GO_0016829 | http://purl.obolibrary.org/obo/GO_0016702 | http://purl.obolibrary.org/obo/GO_0004052 | http://purl.obolibrary.org/obo/GO_0047677 | http://purl.obolibrary.org/obo/GO_0106237 | | | | 21558561 | 15629692 | | http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0019306 closeMatch http://glycosmos.org/glycogene/335 335 APOA1 heat shock protein binding | high-density lipoprotein particle receptor binding | receptor ligand activity | cholesterol transfer activity | cholesterol binding | chemorepellent activity | protein homodimerization activity | apolipoprotein A-I receptor binding | identical protein binding | amyloid-beta binding | phospholipid binding | apolipoprotein receptor binding | protein binding | enzyme binding | high-density lipoprotein particle binding | signaling receptor binding | phosphatidylcholine-sterol O-acyltransferase activator activity http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0070653 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0060228 11027668 | 10764676,12651854 | 27477018 | 15464323,9651324 | 15464323 | 23726972 | | 16443932 | 17676061,18719128,20133843,20884842,22184756,22609356,24316228,24702826,8049247 | 11297421,9211985 | 12810715 | 11162594 | 11297421,11991719,12084722,12917409,14967812,1587806,17676061,17786215,19758344,21900206,23719382,25416956,25910212,28514442,28565870,28887769,30458687,31270237,32296183,32814053,33961781 | 1587806 | | 27477018 | 4335615 http://nanbyodata.jp/ontology/NANDO_1201062 NANDO:1201062 指定難病 Designated intractable disease 家族性アミロイドニューロパチーIII型 Familial amyloid polyneuropathy type 3 MONDO:0019731 exactMatch http://glycosmos.org/glycogene/613 613 BCR histone H3S28 kinase activity | DNA-dependent protein kinase activity | histone H3T11 kinase activity | histone H2BS14 kinase activity | histone H2BS36 kinase activity | protein tyrosine kinase activity | histone H3S57 kinase activity | histone H2AS1 kinase activity | protein serine/threonine kinase activity | histone H2AT120 kinase activity | histone H3T3 kinase activity | GTPase activator activity | 3-phosphoinositide-dependent protein kinase activity | ribosomal protein S6 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | guanyl-nucleotide exchange factor activity | ATP binding | histone H2AS121 kinase activity | histone H3T6 kinase activity | histone H3S10 kinase activity | protein binding | AMP-activated protein kinase activity | histone H4S1 kinase activity | protein serine kinase activity | histone H2AXS139 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T45 kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140857 | | | | | | | | 1657398 | | | 1903516,7479768 | | | | 23940119,7479768 | | | | | 10887132,20962234,21706016,22153077,25331951,28514442,33961781,8112292,8955135,8995379,9174058,9178913,9566916 | | | | | | http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/613 613 BCR histone H3S28 kinase activity | DNA-dependent protein kinase activity | histone H3T11 kinase activity | histone H2BS14 kinase activity | histone H2BS36 kinase activity | protein tyrosine kinase activity | histone H3S57 kinase activity | histone H2AS1 kinase activity | protein serine/threonine kinase activity | histone H2AT120 kinase activity | histone H3T3 kinase activity | GTPase activator activity | 3-phosphoinositide-dependent protein kinase activity | ribosomal protein S6 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | guanyl-nucleotide exchange factor activity | ATP binding | histone H2AS121 kinase activity | histone H3T6 kinase activity | histone H3S10 kinase activity | protein binding | AMP-activated protein kinase activity | histone H4S1 kinase activity | protein serine kinase activity | histone H2AXS139 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T45 kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140857 | | | | | | | | 1657398 | | | 1903516,7479768 | | | | 23940119,7479768 | | | | | 10887132,20962234,21706016,22153077,25331951,28514442,33961781,8112292,8955135,8995379,9174058,9178913,9566916 | | | | | | http://nanbyodata.jp/ontology/NANDO_2200013 NANDO:2200013 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄性白血病 Chronic myeloid leukemia MONDO:0011996 exactMatch http://glycosmos.org/glycogene/613 613 BCR histone H3S28 kinase activity | DNA-dependent protein kinase activity | histone H3T11 kinase activity | histone H2BS14 kinase activity | histone H2BS36 kinase activity | protein tyrosine kinase activity | histone H3S57 kinase activity | histone H2AS1 kinase activity | protein serine/threonine kinase activity | histone H2AT120 kinase activity | histone H3T3 kinase activity | GTPase activator activity | 3-phosphoinositide-dependent protein kinase activity | ribosomal protein S6 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | guanyl-nucleotide exchange factor activity | ATP binding | histone H2AS121 kinase activity | histone H3T6 kinase activity | histone H3S10 kinase activity | protein binding | AMP-activated protein kinase activity | histone H4S1 kinase activity | protein serine kinase activity | histone H2AXS139 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H3T45 kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0140857 | | | | | | | | 1657398 | | | 1903516,7479768 | | | | 23940119,7479768 | | | | | 10887132,20962234,21706016,22153077,25331951,28514442,33961781,8112292,8955135,8995379,9174058,9178913,9566916 | | | | | | http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/861 861 RUNX1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | ATP binding | calcium ion binding | transcription corepressor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | DNA binding | protein homodimerization activity | protein heterodimerization activity | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coactivator binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001223 9199349 | 9199349 | | 12217689 | 9751710 | | 10207087,10856244,11965546,12217689,14970218,16917507,17377532,17431401,18280240,19497860,21179004,21873977,22253733,25241761,25283809,25678665,2845103,28533407,29391048,32296183,33961781,34591612,35914814,9751710 | 9199349 | 21873977 | 12217689,8413232,9199349 | 10856244 | 8413232 | 14970218,9199349 | 17377532 | 11742995 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/861 861 RUNX1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | ATP binding | calcium ion binding | transcription corepressor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | DNA binding | protein homodimerization activity | protein heterodimerization activity | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coactivator binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001223 9199349 | 9199349 | | 12217689 | 9751710 | | 10207087,10856244,11965546,12217689,14970218,16917507,17377532,17431401,18280240,19497860,21179004,21873977,22253733,25241761,25283809,25678665,2845103,28533407,29391048,32296183,33961781,34591612,35914814,9751710 | 9199349 | 21873977 | 12217689,8413232,9199349 | 10856244 | 8413232 | 14970218,9199349 | 17377532 | 11742995 http://nanbyodata.jp/ontology/NANDO_2200013 NANDO:2200013 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄性白血病 Chronic myeloid leukemia MONDO:0011996 exactMatch http://glycosmos.org/glycogene/861 861 RUNX1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | ATP binding | calcium ion binding | transcription corepressor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | DNA binding | protein homodimerization activity | protein heterodimerization activity | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coactivator binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001223 9199349 | 9199349 | | 12217689 | 9751710 | | 10207087,10856244,11965546,12217689,14970218,16917507,17377532,17431401,18280240,19497860,21179004,21873977,22253733,25241761,25283809,25678665,2845103,28533407,29391048,32296183,33961781,34591612,35914814,9751710 | 9199349 | 21873977 | 12217689,8413232,9199349 | 10856244 | 8413232 | 14970218,9199349 | 17377532 | 11742995 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_1200148 NANDO:1200148 指定難病 Designated intractable disease 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 exactMatch http://glycosmos.org/glycogene/675 675 BRCA2 histone acetyltransferase activity | protease binding | identical protein binding | single-stranded DNA binding | protein binding | gamma-tubulin binding | histone H4 acetyltransferase activity | histone H3 acetyltransferase activity http://purl.obolibrary.org/obo/GO_0004402 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043015 | http://purl.obolibrary.org/obo/GO_0010485 | http://purl.obolibrary.org/obo/GO_0010484 9824164 | 15314155 | 21601571,25282148 | 20729832 | 10373512,10551859,11597317,12242698,12442171,15115758,15800615,15930293,15967112,16099937,16205630,16275750,17420451,17515903,17515904,17541404,18212739,18264088,19303847,19369211,19423707,19609323,19628690,20421506,20729832,20729859,21399666,21601571,21719596,22116401,22193777,22293751,24013206,24141787,24485656,24981860,25282148,25585578,26833090,28319063,30410870,31242413,33961781,34591612,39009827,9560268,9774970 | 17286961 | 9619837 | 9619837 http://nanbyodata.jp/ontology/NANDO_2200043 NANDO:2200043 小児慢性特定疾病 Specific pediatric chronic disease ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 exactMatch http://glycosmos.org/glycogene/412 412 STS steryl-sulfatase activity | sulfuric ester hydrolase activity | metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0004773 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 | 15962010 | | http://nanbyodata.jp/ontology/NANDO_1200625 NANDO:1200625 指定難病 Designated intractable disease X連鎖性劣性魚鱗癬症候群 Recessive X-linked ichtyosis MONDO:0010622 exactMatch http://glycosmos.org/glycogene/773 773 CACNA1A syntaxin binding | amyloid-beta binding | metal ion binding | high voltage-gated calcium channel activity | voltage-gated calcium channel activity | protein binding | calcium ion binding http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008331 | http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 8692999 | 23376566 | | 21883149,23376566,24836863,26716990 | 10753886,12451115,21883149 | 11865310,21078624,33539324,8692999 | http://nanbyodata.jp/ontology/NANDO_1200525 NANDO:1200525 指定難病 Designated intractable disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/778 778 CACNA1F voltage-gated calcium channel activity | protein binding | metal ion binding | high voltage-gated calcium channel activity http://purl.obolibrary.org/obo/GO_0005245 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008331 12111638,15897456,27226626 | 27226626 | | 27226626 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/847 847 CAT antioxidant activity | catalase activity | enzyme binding | metal ion binding | oxidoreductase activity, acting on peroxide as acceptor | protein homodimerization activity | aminoacylase activity | heme binding | NADP binding | identical protein binding http://purl.obolibrary.org/obo/GO_0016209 | http://purl.obolibrary.org/obo/GO_0004096 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016684 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004046 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0050661 | http://purl.obolibrary.org/obo/GO_0042802 10514471 | 16644728,18312938,18379038,7882369 | 16781659 | | | 10656833 | | 10656833,11134921 | 10656833 | 21976670,21988832,29568061 http://nanbyodata.jp/ontology/NANDO_1200774 NANDO:1200774 指定難病 Designated intractable disease アカタラセミア Acatalasemia MONDO:0013571 exactMatch http://glycosmos.org/glycogene/867 867 CBL ephrin receptor binding | ubiquitin-protein transferase activity | ubiquitin protein ligase activity | zinc ion binding | cadherin binding | protein binding | SH3 domain binding | receptor tyrosine kinase binding | phosphotyrosine residue binding | calcium ion binding | phosphatidylinositol 3-kinase regulatory subunit binding http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0036312 18034775 | 15465819 | | | 25468996 | 10068674,10092522,10679202,11157475,11697890,11891219,12177062,12815057,14596919,15090612,15094368,15282549,15657067,15708858,15737992,15962011,16407834,16467851,16636290,16893902,16914641,16982329,17020880,17094785,17141222,17372230,17395426,17974561,18273061,18654987,19268472,19380743,20308550,20562913,20618440,20711168,20936779,21163258,21570973,21706016,22266821,23799367,24255178,25036637,25241761,25814554,27059931,28514442,29237719,30118682,31980649,32814053,33961781,35271311,36931259,5668240,7657591,8524328,8626543,8663231,9092538,9160881,9447983,9890970 | 9447983 | | | | http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/867 867 CBL ephrin receptor binding | ubiquitin-protein transferase activity | ubiquitin protein ligase activity | zinc ion binding | cadherin binding | protein binding | SH3 domain binding | receptor tyrosine kinase binding | phosphotyrosine residue binding | calcium ion binding | phosphatidylinositol 3-kinase regulatory subunit binding http://purl.obolibrary.org/obo/GO_0046875 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0036312 18034775 | 15465819 | | | 25468996 | 10068674,10092522,10679202,11157475,11697890,11891219,12177062,12815057,14596919,15090612,15094368,15282549,15657067,15708858,15737992,15962011,16407834,16467851,16636290,16893902,16914641,16982329,17020880,17094785,17141222,17372230,17395426,17974561,18273061,18654987,19268472,19380743,20308550,20562913,20618440,20711168,20936779,21163258,21570973,21706016,22266821,23799367,24255178,25036637,25241761,25814554,27059931,28514442,29237719,30118682,31980649,32814053,33961781,35271311,36931259,5668240,7657591,8524328,8626543,8663231,9092538,9160881,9447983,9890970 | 9447983 | | | | http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/171023 171023 ASXL1 peroxisome proliferator activated receptor binding | nuclear retinoic acid receptor binding | transcription coactivator activity | chromatin binding | DNA binding | zinc ion binding | protein binding | metal ion binding http://purl.obolibrary.org/obo/GO_0042975 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | | | | | | 16606617,18624398,19615732,20436459,22897849,27705803,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0020311 exactMatch http://glycosmos.org/glycogene/171023 171023 ASXL1 peroxisome proliferator activated receptor binding | nuclear retinoic acid receptor binding | transcription coactivator activity | chromatin binding | DNA binding | zinc ion binding | protein binding | metal ion binding http://purl.obolibrary.org/obo/GO_0042975 | http://purl.obolibrary.org/obo/GO_0042974 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | | | | | | 16606617,18624398,19615732,20436459,22897849,27705803,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/79813 79813 EHMT1 protein binding | histone H3K9me2 methyltransferase activity | protein-lysine N-methyltransferase activity | C2H2 zinc finger domain binding | methyltransferase activity | histone H3K27 methyltransferase activity | p53 binding | zinc ion binding | histone H3K9 methyltransferase activity | transcription corepressor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0016279 | http://purl.obolibrary.org/obo/GO_0070742 | http://purl.obolibrary.org/obo/GO_0008168 | http://purl.obolibrary.org/obo/GO_0046976 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0001222 16702210,19061646,20871592,21131967,26496610 | | 20118233 | | 12004135 | | 20118233 | | 12004135 | 29628311 http://nanbyodata.jp/ontology/NANDO_1200959 NANDO:1200959 指定難病 Designated intractable disease 9q34欠失症候群 9q34 deletion syndrome MONDO:0012455 exactMatch http://glycosmos.org/glycogene/3000 3000 GUCY2D signaling receptor activity | protein binding | protein homodimerization activity | adenylate cyclase activity | guanylate cyclase activity | protein-containing complex binding | ATP binding | GTP binding | protein kinase activity | peptide receptor activity http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004016 | http://purl.obolibrary.org/obo/GO_0004383 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0001653 1356371 | 21078983,21124868 | | | 21928830,30319355 | | | | | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/3073 3073 HEXA acetylglucosaminyltransferase activity | protein heterodimerization activity | beta-N-acetylhexosaminidase activity | N-acetyl-beta-D-galactosaminidase activity | protein binding | beta-N-acetylglucosaminidase activity http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004563 | http://purl.obolibrary.org/obo/GO_0102148 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016231 25645918 | 6230359 | 8123671,8672428,9694901 | | 16698036,28514442,33961781 | http://nanbyodata.jp/ontology/NANDO_1200071 NANDO:1200071 指定難病 Designated intractable disease Tay-Sachs病 Tay-Sachs disease MONDO:0010100 exactMatch http://glycosmos.org/glycogene/3107 3107 HLA-C signaling receptor binding | TAP binding | peptide antigen binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005515 | 8617941,8805302 | 22031944 | 12853576,17056715,18322206,18624290,19858347,24018270,27649529,28546555,28685972 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/3107 3107 HLA-C signaling receptor binding | TAP binding | peptide antigen binding | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0046977 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0005515 | 8617941,8805302 | 22031944 | 12853576,17056715,18322206,18624290,19858347,24018270,27649529,28546555,28685972 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_1200079 NANDO:1200079 指定難病 Designated intractable disease 後期乳児型異染性白質ジストロフィー Late infantile metachromatic leukodystrophy MONDO:0017729 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_1200081 NANDO:1200081 指定難病 Designated intractable disease 成人型異染性白質ジストロフィー Adult metachromatic leukodystrophy MONDO:0017730 exactMatch http://glycosmos.org/glycogene/5073 5073 PARN poly(A)-specific ribonuclease activity | mRNA 3'-UTR binding | cation binding | protein binding | nuclease activity | RNA binding | telomerase RNA binding | protein kinase binding | metal ion binding | 3'-5'-RNA exonuclease activity http://purl.obolibrary.org/obo/GO_0004535 | http://purl.obolibrary.org/obo/GO_0003730 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004518 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000175 25049417,26482878,26950371 | 9736620 | 15358788 | 14731398,20379136,21876179 | 9736620 | 22658674 | 26482878,26950371 | 20932473 | | http://nanbyodata.jp/ontology/NANDO_1200304 NANDO:1200304 指定難病 Designated intractable disease 先天性角化不全症 Dyskeratosis congenita MONDO:0015780 exactMatch http://glycosmos.org/glycogene/5156 5156 PDGFRA insulin receptor activity | brain-derived neurotrophic factor receptor activity | transmembrane-ephrin receptor activity | protein kinase activity | GPI-linked ephrin receptor activity | platelet-derived growth factor receptor binding | boss receptor activity | transmembrane receptor protein tyrosine kinase activity | platelet-derived growth factor beta-receptor activity | macrophage colony-stimulating factor receptor activity | protein-containing complex binding | vascular endothelial growth factor receptor activity | ATP binding | insulin-like growth factor receptor activity | placental growth factor receptor activity | protein homodimerization activity | platelet-derived growth factor alpha-receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | protein binding | platelet-derived growth factor binding | protein tyrosine kinase collagen receptor activity | epidermal growth factor receptor activity | fibroblast growth factor receptor activity | vascular endothelial growth factor binding http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0038085 | | | 24190966 | | 2542288 | | 1646396 | | | | 17470632 | | | | 2542288 | 10806482,2536956,2554309,8188664 | | | 10733900,10806482,11297552,17470632,18701889,20534510,24658140,25241761,25416956,31980649,32296183,32814053,35384245,36931259,7679113,9546424 | 10806482,2536956,2554309,8188664 | | | | 17470632 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/5156 5156 PDGFRA insulin receptor activity | brain-derived neurotrophic factor receptor activity | transmembrane-ephrin receptor activity | protein kinase activity | GPI-linked ephrin receptor activity | platelet-derived growth factor receptor binding | boss receptor activity | transmembrane receptor protein tyrosine kinase activity | platelet-derived growth factor beta-receptor activity | macrophage colony-stimulating factor receptor activity | protein-containing complex binding | vascular endothelial growth factor receptor activity | ATP binding | insulin-like growth factor receptor activity | placental growth factor receptor activity | protein homodimerization activity | platelet-derived growth factor alpha-receptor activity | stem cell factor receptor activity | hepatocyte growth factor receptor activity | protein binding | platelet-derived growth factor binding | protein tyrosine kinase collagen receptor activity | epidermal growth factor receptor activity | fibroblast growth factor receptor activity | vascular endothelial growth factor binding http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0038085 | | | 24190966 | | 2542288 | | 1646396 | | | | 17470632 | | | | 2542288 | 10806482,2536956,2554309,8188664 | | | 10733900,10806482,11297552,17470632,18701889,20534510,24658140,25241761,25416956,31980649,32296183,32814053,35384245,36931259,7679113,9546424 | 10806482,2536956,2554309,8188664 | | | | 17470632 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/5159 5159 PDGFRB stem cell factor receptor activity | GTPase activator activity | platelet-derived growth factor beta-receptor activity | GPI-linked ephrin receptor activity | transmembrane-ephrin receptor activity | platelet activating factor receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | fibroblast growth factor receptor activity | platelet-derived growth factor receptor activity | protein kinase activity | epidermal growth factor receptor activity | vascular endothelial growth factor binding | signaling receptor binding | placental growth factor receptor activity | hepatocyte growth factor receptor activity | protein tyrosine kinase activity | ATP binding | macrophage colony-stimulating factor receptor activity | protein binding | insulin receptor activity | enzyme binding | platelet-derived growth factor alpha-receptor activity | platelet-derived growth factor receptor binding | platelet-derived growth factor binding | protein kinase binding | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0004992 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005017 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0038085 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | 1653029 | 1314164,2536956,2554309,26599395,2850496 | | | 2536956 | | | | 2536956 | 1314164 | | 17470632 | 10821867 | | | 1653029 | | | 10336465,10752619,10806482,10821867,11297552,11710529,11896612,12614164,12706723,1314164,1330535,1334459,1375321,1396585,15641795,16456542,16477012,1661130,17242191,17470632,17981115,18997771,19167335,19864249,20534510,21245321,21376233,2157284,23063561,23397142,24012959,25241761,25416956,30015847,31585087,32296183,32814053,33961781,35384245,7530043,7536927,7545675,7679113,7680644,7683666,7685273,7687537,7688466,7692233,7876130,8119896,8181064,8183548,8382612,8382774,8538796,8555205,8564419,8670861,8940081,9153411,9355745,9512716,9742401 | | 26315405 | | 2542288 | 2536956,2554309,2850496 | 16479011 | | | http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0020311 exactMatch http://glycosmos.org/glycogene/5195 5195 PEX14 protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding http://purl.obolibrary.org/obo/GO_0008320 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0008017 28765278 | 10562279,10704444,11863372,12096124,12488033,19197237,19584060,21525035,21976670,24235149,29997244,31467278,32296183,37398436,9653144 | 10022913,21525035 | 11863372 | 12488033 | 11438541,24235149,28765278 | 21525035 | 21525035 http://nanbyodata.jp/ontology/NANDO_1200760 NANDO:1200760 指定難病 Designated intractable disease ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 exactMatch http://glycosmos.org/glycogene/5256 5256 PHKA2 phosphorylase kinase activity | protein binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 7549948 | 23455922,26496610,28514442,32296183,32707033,32814053,33961781,35271311 | http://nanbyodata.jp/ontology/NANDO_1200847 NANDO:1200847 指定難病 Designated intractable disease 肝型糖原病IXa型 Hepatic glycogen storage disease type IXa MONDO:0010598 exactMatch http://glycosmos.org/glycogene/5261 5261 PHKG2 ATP binding | tau-protein kinase activity | phosphorylase kinase activity | enzyme binding | protein binding | calmodulin binding | protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050321 | http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004674 | | 10487978 | | 23455922,26496610,28514442,32296183,32707033,33961781,35271311 | | 10487978 http://nanbyodata.jp/ontology/NANDO_1200849 NANDO:1200849 指定難病 Designated intractable disease 肝型糖原病IXc型 Hepatic glycogen storage disease type IXc MONDO:0013091 exactMatch http://glycosmos.org/glycogene/5305 5305 PIP4K2A ATP binding | protein binding | 1-phosphatidylinositol-4-phosphate 5-kinase activity | protein homodimerization activity | 1-phosphatidylinositol-5-phosphate 4-kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016308 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0016309 | 32296183 | 26774281,7639683 | 32130941 | 30718367 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/5305 5305 PIP4K2A ATP binding | protein binding | 1-phosphatidylinositol-4-phosphate 5-kinase activity | protein homodimerization activity | 1-phosphatidylinositol-5-phosphate 4-kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016308 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0016309 | 32296183 | 26774281,7639683 | 32130941 | 30718367 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/5573 5573 PRKAR1A cAMP binding | protein domain specific binding | protein binding | cAMP-dependent protein kinase inhibitor activity | ubiquitin protein ligase binding | protein kinase A catalytic subunit binding | cAMP-dependent protein kinase regulator activity http://purl.obolibrary.org/obo/GO_0030552 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0008603 | 25097019 | 11414803,15655353,16189514,16387847,16491121,17911601,19060904,20195357,20562859,21900206,23455922,24605759,24700472,24855271,25477193,28514442,31515488,31980649,32296183,32707033,33058759,33961781,35271311 | 21812984 | 21423175 | 17911601,21812984 | 21812984 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/5621 5621 PRNP ATP-dependent protein binding | cuprous ion binding | molecular condensate scaffold activity | tubulin binding | aspartic-type endopeptidase inhibitor activity | protein binding | type 5 metabotropic glutamate receptor binding | molecular function activator activity | protein-containing complex binding | amyloid-beta binding | microtubule binding | lamin binding | type 8 metabotropic glutamate receptor binding | cupric ion binding | molecular adaptor activity | identical protein binding | signaling receptor activity | protein-folding chaperone binding | copper ion binding | transmembrane transporter binding | glycosaminoglycan binding | protease binding http://purl.obolibrary.org/obo/GO_0043008 | http://purl.obolibrary.org/obo/GO_1903136 | http://purl.obolibrary.org/obo/GO_0140693 | http://purl.obolibrary.org/obo/GO_0015631 | http://purl.obolibrary.org/obo/GO_0019828 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031802 | http://purl.obolibrary.org/obo/GO_0140677 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0031805 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0002020 | 20564047 | 30401430 | 16004966 | | 16286452,17500595,18482256,21920025,22285492,22484317,23236467,23907583,24012003,24028865,24390569,28298427,28650319,28671123,32814053 | | | 23386614 | 21593310,22820466,24012003,26871627 | 16004966 | | 24012003 | | 30401430 | 16286452,18025469,18436646,19204296,19278656,19927125,20564047,21920025,32284600,32514176,34516876 | | | 11900542,16294306,19242475,24970228 | | | http://nanbyodata.jp/ontology/NANDO_1200191 NANDO:1200191 指定難病 Designated intractable disease 致死性家族性不眠症 Fatal familial insomnia MONDO:0010808 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_1200075 NANDO:1200075 指定難病 Designated intractable disease 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_1200079 NANDO:1200079 指定難病 Designated intractable disease 後期乳児型異染性白質ジストロフィー Late infantile metachromatic leukodystrophy MONDO:0017729 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_1200081 NANDO:1200081 指定難病 Designated intractable disease 成人型異染性白質ジストロフィー Adult metachromatic leukodystrophy MONDO:0017730 exactMatch http://glycosmos.org/glycogene/5781 5781 PTPN11 peptide hormone receptor binding | cell adhesion molecule binding | protein tyrosine phosphatase activity | cadherin binding | signaling receptor complex adaptor activity | protein kinase binding | receptor tyrosine kinase binding | protein tyrosine kinase binding | non-membrane spanning protein tyrosine phosphatase activity | protein binding | histone H2AXY142 phosphatase activity | phosphotyrosine residue binding | molecular adaptor activity | protein tyrosine phosphatase activity, metal-dependent | insulin receptor binding | phosphoprotein phosphatase activity http://purl.obolibrary.org/obo/GO_0051428 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0004721 | 15985432 | 10206955,15133037,17562706,22759635,23029125,26617336,26742426,28074573 | 15985432 | 7493946 | | | 15985432 | 10655584,16481357 | 10206955,10540326,10655584,10660596,10681522,10704309,10887109,11323411,11453982,12051764,12577067,12614164,12855672,14665621,14701753,15133037,15170389,15240681,15574420,15985432,16253990,16254138,16273093,16337946,16339535,16354697,16963136,17562706,17936057,17947393,18579758,18604210,19172738,19275884,19380743,19509291,19843936,20308328,20473329,20933011,21516116,21706016,23112346,23397142,24642916,24728074,24935154,25416956,26742426,26755705,27229929,28046066,28065597,29997244,31515488,31585087,31980649,32296183,33961781,34310951,35384245,7493946,7504175,7513703,7523381,7530043,7642582,7688466,8119896,8183548,8538796,8648092,8810330,8895367,9312087,9535915,9593725,9632781,9658397,9774457,9792637 | | 11986327 | 26358190 | | 7493946 | 15133037 http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0011908 closeMatch http://glycosmos.org/glycogene/5781 5781 PTPN11 peptide hormone receptor binding | cell adhesion molecule binding | protein tyrosine phosphatase activity | cadherin binding | signaling receptor complex adaptor activity | protein kinase binding | receptor tyrosine kinase binding | protein tyrosine kinase binding | non-membrane spanning protein tyrosine phosphatase activity | protein binding | histone H2AXY142 phosphatase activity | phosphotyrosine residue binding | molecular adaptor activity | protein tyrosine phosphatase activity, metal-dependent | insulin receptor binding | phosphoprotein phosphatase activity http://purl.obolibrary.org/obo/GO_0051428 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0030159 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0004721 | 15985432 | 10206955,15133037,17562706,22759635,23029125,26617336,26742426,28074573 | 15985432 | 7493946 | | | 15985432 | 10655584,16481357 | 10206955,10540326,10655584,10660596,10681522,10704309,10887109,11323411,11453982,12051764,12577067,12614164,12855672,14665621,14701753,15133037,15170389,15240681,15574420,15985432,16253990,16254138,16273093,16337946,16339535,16354697,16963136,17562706,17936057,17947393,18579758,18604210,19172738,19275884,19380743,19509291,19843936,20308328,20473329,20933011,21516116,21706016,23112346,23397142,24642916,24728074,24935154,25416956,26742426,26755705,27229929,28046066,28065597,29997244,31515488,31585087,31980649,32296183,33961781,34310951,35384245,7493946,7504175,7513703,7523381,7530043,7642582,7688466,8119896,8183548,8538796,8648092,8810330,8895367,9312087,9535915,9593725,9632781,9658397,9774457,9792637 | | 11986327 | 26358190 | | 7493946 | 15133037 http://nanbyodata.jp/ontology/NANDO_2200015 NANDO:2200015 小児慢性特定疾病 Specific pediatric chronic disease 若年性骨髄単球性白血病 Juvenile myelomonocytic leukemia MONDO:0011908 exactMatch http://glycosmos.org/glycogene/5824 5824 PEX19 protein carrier chaperone | peroxisome membrane class-1 targeting sequence binding | protein binding | peroxisome membrane targeting sequence binding | ATPase binding http://purl.obolibrary.org/obo/GO_0140597 | http://purl.obolibrary.org/obo/GO_0036105 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033328 | http://purl.obolibrary.org/obo/GO_0051117 11402059,14709540 | 14709540 | 10704444,10777694,11402059,11590176,11883941,12096124,12488033,14709540,15713480,16189514,16280322,16344115,16763195,18174172,18782765,19114594,19197237,19715730,20531392,21102411,21525035,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,34819669,35271311,37398436,38225382 | | 11453642 http://nanbyodata.jp/ontology/NANDO_1200760 NANDO:1200760 指定難病 Designated intractable disease ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 exactMatch http://glycosmos.org/glycogene/5956 5956 OPN1LW protein binding | photoreceptor activity | G protein-coupled photoreceptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009881 | http://purl.obolibrary.org/obo/GO_0008020 32296183 | 8185948 | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/5961 5961 PRPH2 protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | 32814053 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/5978 5978 REST protein binding | RNA polymerase II core promoter sequence-specific DNA binding | zinc ion binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | metal ion binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | identical protein binding | DNA-binding transcription factor activity | chromatin binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000976 10449787,10734093,12192000,16417580,16442230,17468742,17984088,18354482,18354483,19061646,21258371,21284946,31361762 | | | 17130167 | 10449787,10734093,21284946,33108349 | | 17984088,33108349,8568247 | | 19342457 | | 17555596 http://nanbyodata.jp/ontology/NANDO_2200043 NANDO:2200043 小児慢性特定疾病 Specific pediatric chronic disease ウィルムス腫瘍／腎芽腫 Wilms tumour MONDO:0019004 exactMatch http://glycosmos.org/glycogene/6342 6342 SCP2 propanoyl-CoA C-acyltransferase activity | fatty-acyl-CoA binding | oleic acid binding | signaling receptor binding | acetyl-CoA C-myristoyltransferase activity | phosphatidylinositol transfer activity | cholesterol transfer activity | cholesterol binding | long-chain fatty acyl-CoA binding | phosphatidylcholine transfer activity | propionyl-CoA C2-trimethyltridecanoyltransferase activity | protein binding | acetyl-CoA C-acyltransferase activity http://purl.obolibrary.org/obo/GO_0033814 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0070538 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0050633 | http://purl.obolibrary.org/obo/GO_0008526 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0036042 | http://purl.obolibrary.org/obo/GO_0120019 | http://purl.obolibrary.org/obo/GO_0050632 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003988 | 18465878 | 18465878 | 21375735 | | 12641450 | 7642518 | 18465878 | 17418802 | | 11734571,16685654,9245689 | 15182174,19584060,21516116,25416956,32814053 | http://nanbyodata.jp/ontology/NANDO_1200767 NANDO:1200767 指定難病 Designated intractable disease ステロールキャリアプロテインX欠損症 Sterol carrier protein 2 deficiency MONDO:0013391 exactMatch http://glycosmos.org/glycogene/64218 64218 SEMA4A semaphorin receptor binding | protein binding | chemorepellent activity | neuropilin binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0038191 | 17318185 | | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/6427 6427 SRSF2 pre-mRNA binding | protein binding | protein kinase C binding | transcription corepressor activity | RNA binding http://purl.obolibrary.org/obo/GO_0036002 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0003723 | 15652350,18559666,21157427,21296756,21504830,22365833,33961781,9237760,9447963 | | 15652350 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200014 NANDO:2200014 小児慢性特定疾病 Specific pediatric chronic disease 慢性骨髄単球性白血病 Chronic myelomonocytic leukemia MONDO:0020311 exactMatch http://glycosmos.org/glycogene/6507 6507 SLC1A3 metal ion binding | L-glutamate transmembrane transporter activity | glutamate:sodium symporter activity | neutral L-amino acid transmembrane transporter activity | high-affinity L-glutamate transmembrane transporter activity | protein binding | glutamate binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005313 | http://purl.obolibrary.org/obo/GO_0015501 | http://purl.obolibrary.org/obo/GO_0015175 | http://purl.obolibrary.org/obo/GO_0005314 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016595 | 7521911 | 20477940,8123008 | | 26690923,28032905,8123008 | 32296183 | http://nanbyodata.jp/ontology/NANDO_1200525 NANDO:1200525 指定難病 Designated intractable disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/6609 6609 SMPD1 zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061750 | http://purl.obolibrary.org/obo/GO_0004767 | http://purl.obolibrary.org/obo/GO_0034480 | http://purl.obolibrary.org/obo/GO_0016798 | http://purl.obolibrary.org/obo/GO_0005515 8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428 http://nanbyodata.jp/ontology/NANDO_1200062 NANDO:1200062 指定難病 Designated intractable disease ニーマン・ピック病B型 Niemann-Pick disease type B MONDO:0011871 exactMatch http://glycosmos.org/glycogene/81608 81608 FIP1L1 protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 15937220,16189514,19224921,25416956,26496610,29276085,33961781 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/93589 93589 CACNA2D4 metal ion binding | voltage-gated calcium channel activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005245 | 12181424 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/54539 54539 NDUFB11 protein binding http://purl.obolibrary.org/obo/GO_0005515 25416956,31206022,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/54880 54880 BCOR histone deacetylase binding | heat shock protein binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | transcription corepressor activity | DNA-binding transcription factor binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004842 10898795 | 16943429 | 19578371 | 16713569,16943429,23260655,23523425,24981860,25416956,26496610,26687479,27505670,27705803,33961781,35271311 | | 10898795,15878880 | 10898795 | 16943429 http://nanbyodata.jp/ontology/NANDO_2200007 NANDO:2200007 小児慢性特定疾病 Specific pediatric chronic disease 急性前骨髄球性白血病 Acute promyelocytic leukemia MONDO:0012883 exactMatch http://glycosmos.org/glycogene/8754 8754 ADAM9 laminin binding | protein kinase C binding | protein binding | metalloendopeptidase activity involved in amyloid precursor protein catabolic process | SH3 domain binding | integrin binding | metallopeptidase activity | metalloendopeptidase activity | metal ion binding | collagen binding http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1902945 | http://purl.obolibrary.org/obo/GO_0017124 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005518 15361064 | 8647900 | 10527948,10531379,12054541,15280379,25825872 | 12054541 | 10531379,8647900 | 11162558,15361064,17704059 | 12535668 | 12054541,22480688,9920899 | | 15361064 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/643418 643418 LIPN lipoprotein lipase activity | sterol esterase activity http://purl.obolibrary.org/obo/GO_0004465 | http://purl.obolibrary.org/obo/GO_0004771 | http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/204219 204219 CERS3 DNA binding | protein binding | sphingosine N-acyltransferase activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050291 | 32296183 | 17977534,22038835 http://nanbyodata.jp/ontology/NANDO_1200616 NANDO:1200616 指定難病 Designated intractable disease 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma MONDO:0019306 exactMatch http://glycosmos.org/glycogene/204219 204219 CERS3 DNA binding | protein binding | sphingosine N-acyltransferase activity http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050291 | 32296183 | 17977534,22038835 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0019306 closeMatch http://glycosmos.org/glycogene/54790 54790 TET2 protein binding | methylcytosine dioxygenase activity | DNA binding | zinc ion binding | ferrous iron binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070579 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008198 23222540,23353889,25601757,28514442,29735542,32814053,33961781,34667079 | 21057493,23222540,24315485,32518946 | | 24315485 | 24315485 http://nanbyodata.jp/ontology/NANDO_2200019 NANDO:2200019 小児慢性特定疾病 Specific pediatric chronic disease 骨髄異形成症候群 Myelodysplastic syndrome MONDO:0018881 exactMatch http://glycosmos.org/glycogene/91942 91942 NDUFAF2 protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 16200211 | 32296183,33961781,34819669,38949024 http://nanbyodata.jp/ontology/NANDO_1200180 NANDO:1200180 指定難病 Designated intractable disease 複合体I欠損症 Mitochondrial complex I deficiency MONDO:0100133 exactMatch http://glycosmos.org/glycogene/121214 121214 SDR9C7 NAD-retinol dehydrogenase activity http://purl.obolibrary.org/obo/GO_0004745 19703561 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/8540 8540 AGPS FAD binding | protein binding | alkylglycerone-phosphate synthase activity http://purl.obolibrary.org/obo/GO_0071949 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008609 | 25416956,31515488,32296183 | 10415121,8399344,9553082 http://nanbyodata.jp/ontology/NANDO_1200772 NANDO:1200772 指定難病 Designated intractable disease 根性点状軟骨異形成症3型 Rhizomelic chondrodysplasia punctata type 3 MONDO:0010823 exactMatch http://glycosmos.org/glycogene/27086 27086 FOXP1 sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | nuclear androgen receptor binding | zinc ion binding | metal ion binding | identical protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | core promoter sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001046 28473536 | | | 18640093 | | | 25609649,25853299,26647308 | | 18347093,18640093,19907493,24893771,25027557,25609649,25853299,26647308,28218735,30250039,33961781 | 28218735 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/27086 27086 FOXP1 sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | nuclear androgen receptor binding | zinc ion binding | metal ion binding | identical protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | core promoter sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0050681 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001046 28473536 | | | 18640093 | | | 25609649,25853299,26647308 | | 18347093,18640093,19907493,24893771,25027557,25609649,25853299,26647308,28218735,30250039,33961781 | 28218735 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/8425 8425 LTBP4 extracellular matrix structural constituent | transforming growth factor beta binding | calcium ion binding | integrin binding | protein binding | glycosaminoglycan binding | transforming growth factor beta receptor activity http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0005024 20551380,25037231,27559042,28675934 | 10930463,9660815 | 9660815 | 9660815 | 12429738,19349279,21078624,27339457 | 9660815 | 9660815 http://nanbyodata.jp/ontology/NANDO_1200488 NANDO:1200488 指定難病 Designated intractable disease デュシェンヌ型筋ジストロフィー Duchenne muscular dystrophy MONDO:0010679 exactMatch http://glycosmos.org/glycogene/22926 22926 ATF6 DNA binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | protein binding | DNA-binding transcription factor activity | sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription cis-regulatory region binding | sequence-specific double-stranded DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | protein heterodimerization activity | enzyme binding | identical protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | 11779464 | 16469704,19543265,20102225,22682248,23661758,27238082 | 11163209 | 28473536 | | 24269637 | 16469704 | 28473536 | 14973138 | 16469704 | 11163209 | 20102225,23661758,25609649 http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/8799 8799 PEX11B identical protein binding | protein homodimerization activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 17408615 | 20826455 | 10704444,12096124,14709540,17408615,18782765,20531392,20826455,25416956,29997244,31467278,32814053,37398436 http://nanbyodata.jp/ontology/NANDO_1200760 NANDO:1200760 指定難病 Designated intractable disease ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 exactMatch http://glycosmos.org/glycogene/8504 8504 PEX3 protein binding | lipid binding | protein-macromolecule adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0030674 10704444,11883941,12096124,16189514,16280322,18174172,19715730,21102411,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35271311,37398436,38225382 | 19715730 | http://nanbyodata.jp/ontology/NANDO_1200760 NANDO:1200760 指定難病 Designated intractable disease ツェルベーガー症候群 Zellweger syndrome MONDO:0019609 exactMatch http://glycosmos.org/glycogene/8842 8842 PROM1 cadherin binding | protein binding | actinin binding | cholesterol binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0015485 18654668 | 18654668,23084749,24556617 | 18654668 | http://nanbyodata.jp/ontology/NANDO_1200937 NANDO:1200937 指定難病 Designated intractable disease 錐体杆体ジストロフィー Cone-rod dystrophy MONDO:0015993 exactMatch http://glycosmos.org/glycogene/26053 26053 AUTS2 protein binding | chromatin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 25519132,27705803,28514442,32296183,33961781,34637754 | 25519132 http://nanbyodata.jp/ontology/NANDO_2200001 NANDO:2200001 小児慢性特定疾病 Specific pediatric chronic disease 前駆B細胞急性リンパ性白血病 B-cell precursor lymphoblastic leukemia MONDO:0020511 exactMatch http://glycosmos.org/glycogene/26053 26053 AUTS2 protein binding | chromatin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003682 25519132,27705803,28514442,32296183,33961781,34637754 | 25519132 http://nanbyodata.jp/ontology/NANDO_2200022 NANDO:2200022 小児慢性特定疾病 Specific pediatric chronic disease Bリンパ芽球性リンパ腫 Precursor B lymphoblastic lymphoma MONDO:0020511 closeMatch http://glycosmos.org/glycogene/26154 26154 ABCA12 lipid transporter activity | ATPase-coupled intramembrane lipid transporter activity | apolipoprotein A-I receptor binding | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ABC-type transporter activity | ATP binding | protein binding | signaling receptor binding | ATPase-coupled lipid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0034040 16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253 http://nanbyodata.jp/ontology/NANDO_1200616 NANDO:1200616 指定難病 Designated intractable disease 先天性魚鱗癬様紅皮症 Congenital ichthyosiform erythroderma MONDO:0019306 exactMatch http://glycosmos.org/glycogene/26154 26154 ABCA12 lipid transporter activity | ATPase-coupled intramembrane lipid transporter activity | apolipoprotein A-I receptor binding | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ABC-type transporter activity | ATP binding | protein binding | signaling receptor binding | ATPase-coupled lipid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0034040 16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0017778 exactMatch http://glycosmos.org/glycogene/26154 26154 ABCA12 lipid transporter activity | ATPase-coupled intramembrane lipid transporter activity | apolipoprotein A-I receptor binding | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ABC-type transporter activity | ATP binding | protein binding | signaling receptor binding | ATPase-coupled lipid transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0140326 | http://purl.obolibrary.org/obo/GO_0034191 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0034040 16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253 http://nanbyodata.jp/ontology/NANDO_1200617 NANDO:1200617 指定難病 Designated intractable disease 葉状魚鱗癬 Lamellar ichthyosis MONDO:0019306 closeMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_1200098 NANDO:1200098 指定難病 Designated intractable disease ハンター症候群（重症型） Hunter syndrome type A MONDO:0016315 exactMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_1200099 NANDO:1200099 指定難病 Designated intractable disease ハンター症候群（軽症型） Hunter syndrome type B MONDO:0016316 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_1200094 NANDO:1200094 指定難病 Designated intractable disease ハーラー病 Hurler disease MONDO:0011758 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_1200095 NANDO:1200095 指定難病 Designated intractable disease シェイエ病 Scheie disease MONDO:0011760 exactMatch http://glycosmos.org/glycogene/477 477 ATP1A2 steroid binding | protein binding | ATPase-coupled monoatomic cation transmembrane transporter activity | sodium ion binding | phosphatase activity | potassium ion binding | P-type sodium:potassium-exchanging transporter activity | protein heterodimerization activity | protein-folding chaperone binding | ATP binding | steroid hormone binding | ATP hydrolysis activity http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0031402 | http://purl.obolibrary.org/obo/GO_0016791 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0005391 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990239 | http://purl.obolibrary.org/obo/GO_0016887 23954377 | 23954377 | 19372756,20100892 | 23954377 | | 23954377 | 10636900,12539047,18052210,18728015,20100892,23954377 | | 10636900 | 23954377 | 14742675 | 23954377 http://nanbyodata.jp/ontology/NANDO_1200525 NANDO:1200525 指定難病 Designated intractable disease 小児交互性片麻痺 Alternating hemiplegia of childhood MONDO:0016241 exactMatch http://glycosmos.org/glycogene/1499 1499 CTNNB1 nuclear receptor binding | protein phosphatase binding | histone methyltransferase binding | protein binding | signaling receptor binding | transmembrane transporter binding | transcription corepressor binding | protein kinase binding | cadherin binding | I-SMAD binding | alpha-catenin binding | SMAD binding | nuclear estrogen receptor binding | transcription coactivator activity | DNA-binding transcription factor binding | phosphatase binding | kinase binding | transcription coregulator binding | enzyme binding | chromatin binding | ubiquitin protein ligase binding | RNA polymerase II-specific DNA-binding transcription factor binding | disordered domain specific binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_1990226 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0045294 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0030331 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0097718 12799378,16344550 | | | 10706604,10725230,10773885,10825188,10987273,11401320,11533658,11590244,11713475,11713476,11790773,11955446,12297051,12370829,12408824,12421363,12734196,12820959,12927518,14595118,14600025,15110721,15327768,15327769,15843474,16204054,16212417,16376880,16424001,16442529,16569639,16574648,16630820,16724116,16753179,16858403,16890161,16968744,16983094,17047063,17052462,17057644,17098867,17220478,17237808,17242191,17283121,17289029,17318191,17500595,17510365,17513457,17517646,17679699,17785436,17875931,17983804,18077326,18086858,18087039,18193033,18287330,18354482,18356165,18456656,18509060,18591935,18593713,18662404,18687691,18772112,18805092,18835279,18936100,18948590,19016843,19038973,19166851,19167335,19202075,19303846,19358846,19433865,19571879,19805379,19816403,19830702,20123964,20126258,20164195,20195357,20211142,20360943,20531388,21103407,21112398,21118991,21132015,21242974,21357690,21376238,21399610,21724833,21741601,21743491,21751375,21885566,22014570,22056988,22158051,22187462,22202456,22234184,22261717,22470507,22662192,22682247,22699938,22728435,22773187,23084749,23124878,23136403,23245941,23245942,23273993,23602568,23736261,24072822,24424122,24509793,24561623,24650032,24960609,24976009,25062958,25241761,25266658,25344754,25402006,25609649,25678599,25753001,25807484,25873176,26496610,26893351,27601169,28051067,28051089,28514442,28829046,29361949,29367600,29374064,29568061,29739711,29774127,29910125,30833792,30992345,31073040,32814053,33961781,33964137,34591612,35271311,35384245,36950384,36959122,7890674,8638126,8663237,9264463,9601641,9632714,9707618 | 30683932 | 19996314 | 30097457 | | 18287330,18593713,25468996 | 18593713 | 23136403,7650039,7890674 | 18593713 | 15304487 | 11751639,12651860,12949260,15905404,18193033,22187462,9065402 | 20123964 | 20123964 | 8638126 | | 11533658,18356165 | | 12820959 | 12651860,15905404,18193033,18579517,18936100,19443654 | http://nanbyodata.jp/ontology/NANDO_2200091 NANDO:2200091 小児慢性特定疾病 Specific pediatric chronic disease 頭蓋咽頭腫 Craniopharyngioma MONDO:0018907 exactMatch http://glycosmos.org/glycogene/3913 3913 LAMB2 protein binding | structural constituent of synapse-associated extracellular matrix | structural molecule activity | extracellular matrix structural constituent | integrin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0150043 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005178 32296183 | | 7698745 | 20551380,25037231,27068509,27559042,28675934 | http://nanbyodata.jp/ontology/NANDO_2200117 NANDO:2200117 小児慢性特定疾病 Specific pediatric chronic disease Pierson症候群 Pierson syndrome MONDO:0012184 exactMatch http://glycosmos.org/glycogene/23405 23405 DICER1 RNA binding | RNA endonuclease activity | protein domain specific binding | metal ion binding | siRNA binding | deoxyribonuclease I activity | ATP binding | protein binding | pre-miRNA binding | ribonuclease III activity | double-stranded RNA binding | helicase activity http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0004521 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0035197 | http://purl.obolibrary.org/obo/GO_0004530 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0070883 | http://purl.obolibrary.org/obo/GO_0004525 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0004386 | 18325616,19701182,19820710,25549615 | 12526743 | | 15973356 | | | 12526743,14749716,15973356,16142218,16424907,16477042,17452327,17507929,17531811,17932509,18178619,18325616,19022417,19458619,19668211,19716330,19804757,19820710,19836333,19955415,20869963,21858095,21903422,22484317,23622242,23636329,23661684,23741051,24814348,25446899,25557550,26496610,28546213,28904190,29657270,33328224,33961781 | 18178619,18508075,25549615 | 12411504,12411505,21753850 | 12411504,19701182 | http://nanbyodata.jp/ontology/NANDO_2200080 NANDO:2200080 小児慢性特定疾病 Specific pediatric chronic disease 胸膜肺芽腫 Pleuropulmonaryblastoma MONDO:0011014 exactMatch http://glycosmos.org/glycogene/84231 84231 TRAF7 ubiquitin protein ligase activity | protein binding | zinc ion binding | ubiquitin-protein transferase activity http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004842 21518757 | 14743216,15001576,21903422,32707033,33961781 | 14743216 | 14743216 http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/4952 4952 OCRL phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity | small GTPase binding | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity | phosphatidylinositol phosphate 4-phosphatase activity | inositol-1,4,5-trisphosphate 5-phosphatase activity | protein binding | GTPase activator activity | inositol-polyphosphate 5-phosphatase activity | inositol phosphate phosphatase activity | inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity | phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity http://purl.obolibrary.org/obo/GO_0043813 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0004439 | http://purl.obolibrary.org/obo/GO_0034596 | http://purl.obolibrary.org/obo/GO_0052658 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0004445 | http://purl.obolibrary.org/obo/GO_0052745 | http://purl.obolibrary.org/obo/GO_0052659 | http://purl.obolibrary.org/obo/GO_0034485 | 12915445 | | | | 12915445,16902405,19536138,21233288,21378754,22543976,25107275,25869668,26496610,26824392,27107012,28514442,29125462,32296183,33961781,35271311 | 12915445 | | 1321346,25869668 | | http://nanbyodata.jp/ontology/NANDO_2200188 NANDO:2200188 小児慢性特定疾病 Specific pediatric chronic disease ロウ症候群 Lowe syndrome MONDO:0010645 exactMatch http://glycosmos.org/glycogene/9644 9644 SH3PXD2A protein binding | phosphatidylinositol-3,4-bisphosphate binding | phosphatidylinositol-4,5-bisphosphate binding | phosphatidylinositol-3-phosphate binding | protease binding | superoxide-generating NADPH oxidase activator activity | phosphatidylinositol-5-phosphate binding | phosphatidylinositol-4-phosphate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043325 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0032266 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0016176 | http://purl.obolibrary.org/obo/GO_0010314 | http://purl.obolibrary.org/obo/GO_0070273 16374509,19464300,19755710,20609497,25825872,33961781 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200102 NANDO:2200102 小児慢性特定疾病 Specific pediatric chronic disease 悪性神経鞘腫 Malignant neurinoma MONDO:0017827 exactMatch http://glycosmos.org/glycogene/207 207 AKT1 protein binding | AMP-activated protein kinase activity | histone H3T3 kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H2BS14 kinase activity | identical protein binding | ATP binding | histone H2AS1 kinase activity | histone H2BS36 kinase activity | histone H2AT120 kinase activity | phosphatidylinositol-3,4,5-trisphosphate binding | ribosomal protein S6 kinase activity | protein serine/threonine kinase activity | protein serine/threonine/tyrosine kinase activity | protein homodimerization activity | histone H4S1 kinase activity | enzyme binding | histone H3S28 kinase activity | protein serine kinase activity | calmodulin binding | protein serine/threonine kinase inhibitor activity | protein kinase activity | 14-3-3 protein binding | histone H3T11 kinase activity | Rho-dependent protein serine/threonine kinase activity | potassium channel activator activity | histone H3T45 kinase activity | histone H3S10 kinase activity | protein kinase binding | histone H2AXS139 kinase activity | histone H2AS121 kinase activity | kinase binding | eukaryotic translation initiation factor 2alpha kinase activity | kinase activity | DNA-dependent protein kinase activity | histone H3S57 kinase activity | phosphatidylinositol-3,4-bisphosphate binding | nitric-oxide synthase regulator activity | histone H3T6 kinase activity | TORC2 complex binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0005547 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0030291 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0099104 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0019900 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0043325 | http://purl.obolibrary.org/obo/GO_0030235 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_1904841 10102273,10983986,11154276,11438723,11839802,12176997,12244133,12791994,16044149,16139227,16280327,16282323,16417524,16525023,16537421,16792529,17006541,17577629,17932490,18191226,18292230,18505846,18562279,18624398,18650932,18786403,19162005,19166854,19197339,19262695,19541650,19698782,19713527,19903888,20059950,20086174,20186153,20237237,20333297,20605787,20650008,20682768,20856200,20878056,21044950,21151116,21333377,21621563,21658387,21775285,22309289,22510990,23010592,23251525,23300339,23397142,23434580,23676467,24291004,24412244,24670654,24784001,25190803,25241761,25910212,26256536,26871637,27505672,28514442,29997244,31515488,31980649,32296183,32814053,33505021,33961781,34591612,35271311 | | | | | 17554339,7891724 | 11994271,16540465 | | | | 19203586 | | 10102273,10376603,10983986,11994271,12172553,14749367,15861136,16139227,16540465,17030608,17386266,19573808,19667065,21432781,21711983,23512198,24529379,26440888,28386764,30504268,30514904,31548394,32322062,33594058,8524413 | 22797923 | 10983986 | | | | | 29104511 | 21711983 | 31204173 | 10102273 | | | 33505021 | | | | | | 21177249 | | 14749367 | | | 19203586 | 10376603 | | 21177249 http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/5155 5155 PDGFB protein heterodimerization activity | platelet-derived growth factor binding | protein homodimerization activity | platelet-derived growth factor receptor binding | identical protein binding | superoxide-generating NADPH oxidase activator activity | collagen binding | chemoattractant activity | growth factor activity | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005161 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016176 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 7073684 | 7073684 | 2836953 | 1661670,20534510,2439522,2536956,2836953 | 1396586,23139410,7679113 | 17942966 | 8900172 | 21245381 | 12070119 | 10806482,11297552,12070119,17981115,20534510,2536956,32296183,7679113 http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/5290 5290 PIK3CA ATP binding | protein serine kinase activity | histone H3T45 kinase activity | protein kinase activator activity | 3-phosphoinositide-dependent protein kinase activity | 1-phosphatidylinositol-4-phosphate 3-kinase activity | histone H3T3 kinase activity | histone H3S10 kinase activity | histone H2AXS139 kinase activity | insulin receptor substrate binding | DNA-dependent protein kinase activity | histone H4S1 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S57 kinase activity | histone H3T6 kinase activity | protein binding | histone H3T11 kinase activity | AMP-activated protein kinase activity | histone H3S28 kinase activity | 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity | 1-phosphatidylinositol-3-kinase activity | kinase activity | histone H2AS1 kinase activity | histone H2BS36 kinase activity | ribosomal protein S6 kinase activity | Rho-dependent protein serine/threonine kinase activity | histone H2AS121 kinase activity | histone H2AT120 kinase activity | histone H2BS14 kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035005 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0043560 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0046934 | http://purl.obolibrary.org/obo/GO_0016303 | http://purl.obolibrary.org/obo/GO_0016301 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0044025 | | | | | | | | | | | | | | | 10490823,16043515,17475214,18079394,19380743,19411071,19574958,19805105,20018188,20713702,21706016,22402981,23643389,23676467,24189400,25253337,25814554,26496610,28514442,30568254,32814053,33961781,34591612,34591642,35271311 | | | | 28676499 | 19200708,2174051 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/5970 5970 RELA ubiquitin protein ligase binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | protein kinase binding | transcription coactivator binding | ankyrin repeat binding | actinin binding | DNA-binding transcription factor activity | RNA polymerase II transcription regulatory region sequence-specific DNA binding | peptide binding | enzyme binding | general transcription initiation factor binding | histone deacetylase binding | protein binding | chromatin DNA binding | NF-kappaB binding | chromatin binding | RNA polymerase II core promoter sequence-specific DNA binding | transcription cis-regulatory region binding | protein-containing complex binding | DNA-binding transcription factor activity, RNA polymerase II-specific | phosphate ion binding | protein homodimerization activity | DNA-binding transcription factor binding | identical protein binding http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0071532 | http://purl.obolibrary.org/obo/GO_0042805 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0140296 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0051059 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042301 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0042802 12748188 | 1406630,17350185,21329555,21806946,23729669,23811396,23878390 | 15790681,18073330,18212740,23091055 | 17350185 | 1406630,17350185,21329555,21806946,23811396,26268439,26435691 | 10521409,15465828 | 23811396 | | 25411248 | 12048232,19103749,8413223,9425125 | 18045535,24955228,25411248,7959007 | 18045535 | | 10849440 | 17785205 | 10353611,10498867,11387332,11526476,11591705,11931769,12842894,14600157,14624448,14685242,14743216,1493333,15029197,15125834,15140884,15152190,15355351,15601829,15799966,15917220,16291753,16452207,16683270,16951195,17000776,17003112,17157788,17183367,17301240,17362989,17606919,17612295,17620405,17785205,17882263,17932106,18040287,18045535,18191642,18212740,18296632,18448430,19058135,19103749,19135889,19262565,19322197,19345327,19350539,19411070,19864627,20080798,20164180,20237317,20547752,21081649,21131967,21148319,21187904,21217772,21270162,21483817,21540330,21903422,21911467,21988832,22645123,22808155,23273993,23563313,23636254,23686307,23850221,24072822,24413684,24457201,24634218,24690380,25159141,25241761,25314079,25416956,25609649,25609694,25759022,25822914,26496610,26526615,27736973,28514442,29734393,30894749,31527615,32814053,32911434,33961781,35140242,35271311,35709258,37542259,7651415,7739562,8246997,9865693 | 25411248 | 8441377 | 19058135 | 21343296 | 17350185 | | 21343177,23878390,3091258 | 10521409 | 18045535,18212740 | 10660609,15489227,28362429 | 10498867,8246997,9437432 http://nanbyodata.jp/ontology/NANDO_2200088 NANDO:2200088 小児慢性特定疾病 Specific pediatric chronic disease 上衣腫 Ependymoma MONDO:0016698 exactMatch http://glycosmos.org/glycogene/6598 6598 SMARCB1 DNA binding | identical protein binding | protein binding | transcription coactivator activity | RNA polymerase I core promoter sequence-specific DNA binding | p53 binding | nucleosomal DNA binding | Tat protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0030957 26073604 | 27229929,30108113 | 10078207,10365963,12368262,14963118,15985610,16601680,16687403,20111005,21900206,22368283,23540691,24874740,24981860,27229929,28514442,30108113,31759698,32296183,32814053,33961781,34591612,35271311 | 16687403 | 22368283 | 11950834 | 16217013 | 16687403 http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/6598 6598 SMARCB1 DNA binding | identical protein binding | protein binding | transcription coactivator activity | RNA polymerase I core promoter sequence-specific DNA binding | p53 binding | nucleosomal DNA binding | Tat protein binding http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0001164 | http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0030957 26073604 | 27229929,30108113 | 10078207,10365963,12368262,14963118,15985610,16601680,16687403,20111005,21900206,22368283,23540691,24874740,24981860,27229929,28514442,30108113,31759698,32296183,32814053,33961781,34591612,35271311 | 16687403 | 22368283 | 11950834 | 16217013 | 16687403 http://nanbyodata.jp/ontology/NANDO_2200101 NANDO:2200101 小児慢性特定疾病 Specific pediatric chronic disease 異型奇形腫瘍／ラブドイド腫瘍 Atypical teratoid, rhabdoid tumour MONDO:0020560 exactMatch http://glycosmos.org/glycogene/6605 6605 SMARCE1 nuclear receptor binding | chromatin binding | nucleosomal DNA binding | transcription coactivator activity | DNA binding | N-acetyltransferase activity | protein binding | RNA binding http://purl.obolibrary.org/obo/GO_0016922 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0031492 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008080 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 17363140 | 9435219 | 16217013 | 8804307 | | 12192000 | 12192000,12917342,15985610,16051670,16919237,17363140,21516116,24981860,25416956,28514442,31515488,32296183,33961781 | http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/6608 6608 SMO oxysterol binding | G protein-coupled receptor activity | protein kinase A catalytic subunit binding | cAMP-dependent protein kinase inhibitor activity | protein binding | protein sequestering activity | patched binding http://purl.obolibrary.org/obo/GO_0008142 | http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0005113 | | | 36202993 | 19592253,21659505 | | 9811851 http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/8314 8314 BAP1 cysteine-type deubiquitinase activity | chromatin binding | peptidase activity | protein binding | histone H2A deubiquitinase activity | chromatin DNA binding http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140950 | http://purl.obolibrary.org/obo/GO_0031490 18757409,19188440,19815555,20436459,24703950 | 19815555 | 9528852 | 19117993,19188440,19615732,19815555,20436459,22897849,24211834,25451922,27705803,28614305,33961781,9528852 | 25451922 | http://nanbyodata.jp/ontology/NANDO_2200094 NANDO:2200094 小児慢性特定疾病 Specific pediatric chronic disease 髄膜腫 Meningioma MONDO:0016642 exactMatch http://glycosmos.org/glycogene/3418 3418 IDH2 NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450 | | 22416140,23226729 http://nanbyodata.jp/ontology/NANDO_2200086 NANDO:2200086 小児慢性特定疾病 Specific pediatric chronic disease 退形成性星細胞腫 Anaplastic astrocytoma MONDO:0016684 exactMatch http://glycosmos.org/glycogene/3418 3418 IDH2 NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450 | | 22416140,23226729 http://nanbyodata.jp/ontology/NANDO_2200089 NANDO:2200089 小児慢性特定疾病 Specific pediatric chronic disease 乏突起神経膠腫 Oligodendroglioma MONDO:0016695 exactMatch http://glycosmos.org/glycogene/3559 3559 IL2RA protein binding | interleukin-2 receptor activity | interleukin-2 binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0019976 16477002,17032757 | 16293754,2467293 | http://nanbyodata.jp/ontology/NANDO_2200736 NANDO:2200736 小児慢性特定疾病 Specific pediatric chronic disease CD25欠損症 Immunodeficiency 41 with lymphoproliferation and autoimmunity MONDO:0011664 exactMatch http://glycosmos.org/glycogene/3574 3574 IL7 protein binding | cytokine activity | growth factor activity | interleukin-7 receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005139 19141282,8266077 | 11418668,25870237 | | http://nanbyodata.jp/ontology/NANDO_2200768 NANDO:2200768 小児慢性特定疾病 Specific pediatric chronic disease 疣贅状表皮発育異常症 Epidermodysplasia verruciformis MONDO:0009176 exactMatch http://glycosmos.org/glycogene/54 54 ACP5 acid phosphatase activity | ferric iron binding | ferrous iron binding http://purl.obolibrary.org/obo/GO_0003993 | http://purl.obolibrary.org/obo/GO_0008199 | http://purl.obolibrary.org/obo/GO_0008198 | 15993892 | 15993892 http://nanbyodata.jp/ontology/NANDO_2200744 NANDO:2200744 小児慢性特定疾病 Specific pediatric chronic disease SPENCDI Spondylo enchondro-dysplasiawith immune dysregulation MONDO:0011939 exactMatch http://glycosmos.org/glycogene/83737 83737 ITCH ubiquitin protein ligase activity | ligase activity | ubiquitin-protein transferase activity | arrestin family protein binding | ubiquitin-like protein ligase binding | ubiquitin-like protein transferase activity | protein binding | CXCR chemokine receptor binding | ubiquitin-ubiquitin ligase activity | ribonucleoprotein complex binding http://purl.obolibrary.org/obo/GO_0061630 | http://purl.obolibrary.org/obo/GO_0016874 | http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_1990763 | http://purl.obolibrary.org/obo/GO_0044389 | http://purl.obolibrary.org/obo/GO_0019787 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0045236 | http://purl.obolibrary.org/obo/GO_0034450 | http://purl.obolibrary.org/obo/GO_0043021 10940313,15051726,15678106,17592138,22009753,24790097,27736772,29378950,34927784 | | 34999730 | 23886940 | 24790097 | | 15051726,15678106,16888620,16908849,17028573,17174309,17592138,18334649,19580544,20068034,20392206,20491914,20676133,20818436,20858735,22009753,22057290,22810586,23146885,23236378,24790097,25436413,26854353,28514442,32814053,33961781,34927784,37100772,37219487,38270169,9647693 | 19116316 | 29378950 | 19881509 http://nanbyodata.jp/ontology/NANDO_2200739 NANDO:2200739 小児慢性特定疾病 Specific pediatric chronic disease ITCH欠損症 Syndromic multisystem autoimmune disease due to Itch deficiency MONDO:0013245 exactMatch http://glycosmos.org/glycogene/70 70 ACTC1 protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000146 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0005524 30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632 http://nanbyodata.jp/ontology/NANDO_2201042 NANDO:2201042 小児慢性特定疾病 Specific pediatric chronic disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/10128 10128 LRPPRC actin filament binding | single-stranded DNA binding | protein binding | microtubule binding | beta-tubulin binding | ubiquitin protein ligase binding | RNA binding | mRNA 3'-UTR binding http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0048487 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003730 12762840 | | 15161933,15907802,17050673,19262567,22045337,25959826,26496610,33961781,36931259 | 12762840 | 12762840 | 19725078 | 12832482,22658674,22681889 | http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/1376 1376 CPT2 carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004095 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0008458 | http://purl.obolibrary.org/obo/GO_0005515 1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201132 NANDO:2201132 小児慢性特定疾病 Specific pediatric chronic disease 新生児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症 Neonatal-onset carnitine palmitoyltransferase II deficiency MONDO:0012136 exactMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_2200801 NANDO:2200801 小児慢性特定疾病 Specific pediatric chronic disease CR2欠損症 CD21 deficiency MONDO:0012584 closeMatch http://glycosmos.org/glycogene/1513 1513 CTSK serine-type endopeptidase activity | collagen binding | cysteine-type peptidase activity | protein binding | fibronectin binding | cysteine-type endopeptidase activator activity involved in apoptotic process | cysteine-type endopeptidase activity | proteoglycan binding http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0008234 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001968 | http://purl.obolibrary.org/obo/GO_0008656 | http://purl.obolibrary.org/obo/GO_0004197 | http://purl.obolibrary.org/obo/GO_0043394 | 22952693 | 15752368,19834056 | 12504904,15752368 | 22952693 | | 22952693 | 22952693 http://nanbyodata.jp/ontology/NANDO_2201023 NANDO:2201023 小児慢性特定疾病 Specific pediatric chronic disease 濃化異骨症 Pycnodysostosis MONDO:0009940 exactMatch http://glycosmos.org/glycogene/138050 138050 HGSNAT acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019 19823584,20650889 | http://nanbyodata.jp/ontology/NANDO_2201176 NANDO:2201176 小児慢性特定疾病 Specific pediatric chronic disease C型ムコ多糖症III型 Mucopolysaccharidosis type III C MONDO:0009657 exactMatch http://glycosmos.org/glycogene/22852 22852 ANKRD26 protein binding http://purl.obolibrary.org/obo/GO_0005515 22666460 http://nanbyodata.jp/ontology/NANDO_2200663 NANDO:2200663 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性遺伝性血小板減少症 Autosomal dominant thrombocytopenia 2 MONDO:0008555 exactMatch http://glycosmos.org/glycogene/1756 1756 DMD dystroglycan binding | structural constituent of cytoskeleton | protein binding | nitric-oxide synthase binding | zinc ion binding | actin binding | myosin binding | vinculin binding | structural constituent of muscle http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050998 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0017022 | http://purl.obolibrary.org/obo/GO_0017166 | http://purl.obolibrary.org/obo/GO_0008307 7592992 | 3282674 | 10747910,10767429,16000376,16777071,18468998,19109891,20530487,21115837,25416956,25910212,27225184,28514442,31515488,32296183,33961781,7844150,8576247,9356463 | 7545544 | | 12376554,16803572 | 16803572 | 16803572 | 16000376,3287171 http://nanbyodata.jp/ontology/NANDO_2200865 NANDO:2200865 小児慢性特定疾病 Specific pediatric chronic disease ベッカー型筋ジストロフィー Becker muscular dystrophy MONDO:0010311 exactMatch http://glycosmos.org/glycogene/3651 3651 PDX1 DNA-binding transcription factor activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0044877 | | 17941991 | 28473536 | | http://nanbyodata.jp/ontology/NANDO_2201072 NANDO:2201072 小児慢性特定疾病 Specific pediatric chronic disease MODY4 Maturity-onset diabetes of the young type 4 MONDO:0011667 exactMatch http://glycosmos.org/glycogene/3818 3818 KLKB1 serine-type endopeptidase activity | protein binding http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 | 2844223,32814053 http://nanbyodata.jp/ontology/NANDO_2200684 NANDO:2200684 小児慢性特定疾病 Specific pediatric chronic disease 先天性プレカリクレイン欠乏症 Congenital prekallikrein deficiency MONDO:0012901 exactMatch http://glycosmos.org/glycogene/3827 3827 KNG1 cysteine-type endopeptidase inhibitor activity | signaling receptor binding | zinc ion binding | hormone activity | protein binding | heparin binding http://purl.obolibrary.org/obo/GO_0004869 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 3488317 | 11290596 | 12911595 | 1314587,1329734 | 10969042,11815627,12011093,23082758,23597562,8710908 | 12911595 http://nanbyodata.jp/ontology/NANDO_2200685 NANDO:2200685 小児慢性特定疾病 Specific pediatric chronic disease 先天性高分子キニノゲン欠乏症 High molecular weight kininogen deficiency MONDO:0009234 exactMatch http://glycosmos.org/glycogene/3849 3849 KRT2 structural constituent of cytoskeleton | protein binding | structural constituent of skin epidermis | cytoskeletal protein binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0008092 1380918 | 25416956,25910212,29892012,31515488,32296183 | 7543090 | http://nanbyodata.jp/ontology/NANDO_2200990 NANDO:2200990 小児慢性特定疾病 Specific pediatric chronic disease 表在性表皮融解性魚鱗癬 Superficial epidermolytic ichthyosis MONDO:0007813 exactMatch http://glycosmos.org/glycogene/10747 10747 MASP2 identical protein binding | protein binding | calcium-dependent protein binding | calcium ion binding | serine-type endopeptidase activity | complement component C4b binding | peptidase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0001855 | http://purl.obolibrary.org/obo/GO_0008233 11290788,15117939 | 10946292,11290788,11907111,15117939,18177377,22071314,22607836,23785123,24174618,25359215,27104295,28742139 | 12421953 | | 9087411 | 22949645 | 10946292,12538697 http://nanbyodata.jp/ontology/NANDO_2200793 NANDO:2200793 小児慢性特定疾病 Specific pediatric chronic disease MASP2 欠損症 MASP2 deficiency MONDO:0013423 exactMatch http://glycosmos.org/glycogene/37 37 ACADVL fatty-acyl-CoA binding | acyl-CoA dehydrogenase activity | identical protein binding | protein binding | flavin adenine dinucleotide binding | long-chain-acyl-CoA dehydrogenase activity | very-long-chain-acyl-CoA dehydrogenase activity http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0003995 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0004466 | http://purl.obolibrary.org/obo/GO_0017099 | 9461620,9599005 | 9461620,9599005 | 32296183 | 9461620 | 7668252 | 9461620 http://nanbyodata.jp/ontology/NANDO_2201139 NANDO:2201139 小児慢性特定疾病 Specific pediatric chronic disease 発症前型極長鎖アシルCoA脱水素酵素欠損症 Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency MONDO:0008723 closeMatch http://glycosmos.org/glycogene/6813 6813 STXBP2 protein binding | syntaxin-3 binding | syntaxin-1 binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030348 | http://purl.obolibrary.org/obo/GO_0017075 19804848,19884660,33961781 | 18588921 | http://nanbyodata.jp/ontology/NANDO_2200731 NANDO:2200731 小児慢性特定疾病 Specific pediatric chronic disease STXBP2/Munc18-2欠損症 STXBP2/Munc18-2 deficiency MONDO:0013135 exactMatch http://glycosmos.org/glycogene/6834 6834 SURF1 protein binding | cytochrome-c oxidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129 23260140,26321642 | http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/6927 6927 HNF1A transcription cis-regulatory region binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | protein dimerization activity | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein homodimerization activity | DNA-binding transcription activator activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005515 12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242 http://nanbyodata.jp/ontology/NANDO_2201071 NANDO:2201071 小児慢性特定疾病 Specific pediatric chronic disease MODY3 Maturity-onset diabetes of the young type 3 MONDO:0010894 exactMatch http://glycosmos.org/glycogene/50814 50814 NSDHL C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity | protein binding | 3-beta-hydroxy-delta5-steroid dehydrogenase activity | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity http://purl.obolibrary.org/obo/GO_0000252 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003854 | http://purl.obolibrary.org/obo/GO_0016616 | http://purl.obolibrary.org/obo/GO_0102175 | 32296183,32814053 | 10710235 | | http://nanbyodata.jp/ontology/NANDO_2200998 NANDO:2200998 小児慢性特定疾病 Specific pediatric chronic disease CHILD症候群 CHILD syndrome MONDO:0010621 exactMatch http://glycosmos.org/glycogene/25939 25939 SAMHD1 single-stranded DNA binding | deoxynucleoside triphosphate hydrolase activity | dGTPase activity | identical protein binding | RNA binding | dGTP binding | zinc ion binding | RNA nuclease activity | GTP binding | protein binding | nucleic acid binding http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0106375 | http://purl.obolibrary.org/obo/GO_0008832 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0032567 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004540 | http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003676 29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318 http://nanbyodata.jp/ontology/NANDO_2200897 NANDO:2200897 小児慢性特定疾病 Specific pediatric chronic disease SAMHD1欠損症 Aicardi-Goutieres syndrome 5 MONDO:0013059 exactMatch http://glycosmos.org/glycogene/11322 11322 TMC6 protein binding | mechanosensitive monoatomic ion channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008381 18158319,30068544,32296183,32814053,32917726 | http://nanbyodata.jp/ontology/NANDO_2200768 NANDO:2200768 小児慢性特定疾病 Specific pediatric chronic disease 疣贅状表皮発育異常症 Epidermodysplasia verruciformis MONDO:0009176 exactMatch http://glycosmos.org/glycogene/64805 64805 P2RY12 guanyl-nucleotide exchange factor activity | G protein-coupled purinergic nucleotide receptor activity | G protein-coupled ADP receptor activity | G protein-coupled adenosine receptor activity http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0045028 | http://purl.obolibrary.org/obo/GO_0001621 | http://purl.obolibrary.org/obo/GO_0001609 | | 11104774,12578987 | http://nanbyodata.jp/ontology/NANDO_2200669 NANDO:2200669 小児慢性特定疾病 Specific pediatric chronic disease ADP受容体異常症 ADP receptor deficiencies MONDO:0012354 exactMatch http://glycosmos.org/glycogene/2122 2122 MECOM RNA polymerase II cis-regulatory region sequence-specific DNA binding | histone H3K9me2 methyltransferase activity | histone H3K9 monomethyltransferase activity | zinc ion binding | DNA-binding transcription factor activity | protein homodimerization activity | histone H3K9 methyltransferase activity | protein binding | DNA binding | histone H3 methyltransferase activity | DNA-binding transcription activator activity, RNA polymerase II-specific | metal ion binding http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0140948 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046974 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140938 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0046872 | | | | 19767769 | 15897867 | | 10856240,11328817,11568182,15897867,17635584,21555002,22308434,25814554,30462309,32296183,32814053 | | | | http://nanbyodata.jp/ontology/NANDO_2200660 NANDO:2200660 小児慢性特定疾病 Specific pediatric chronic disease 橈骨尺骨融合を伴う血小板減少症 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:0011555 exactMatch http://glycosmos.org/glycogene/2263 2263 FGFR2 identical protein binding | protein tyrosine kinase activity | epidermal growth factor receptor activity | fibroblast growth factor binding | insulin receptor activity | ATP binding | platelet-derived growth factor alpha-receptor activity | heparin binding | transmembrane-ephrin receptor activity | protein homodimerization activity | brain-derived neurotrophic factor receptor activity | boss receptor activity | protein binding | stem cell factor receptor activity | hepatocyte growth factor receptor activity | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | insulin-like growth factor receptor activity | macrophage colony-stimulating factor receptor activity | platelet-derived growth factor beta-receptor activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005019 19060208,9700203 | 1697263 | | 11923311,19224135,8386828,8663044 | | | | | | 16844695 | | | 10618369,10830168,11069186,11390973,12591959,1309608,22726438,23597563,24440983,25241761,26267536,33961781,35384245,9700203 | | | 10830168,1400433,15629145,1697263,8663044,8676562 | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200848 NANDO:2200848 小児慢性特定疾病 Specific pediatric chronic disease Seather-Chotzen症候群 Saethre-Chotzen syndrome MONDO:0007042 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2200848 NANDO:2200848 小児慢性特定疾病 Specific pediatric chronic disease Seather-Chotzen症候群 Saethre-Chotzen syndrome MONDO:0007042 exactMatch http://glycosmos.org/glycogene/2538 2538 G6PC1 phosphotransferase activity, alcohol group as acceptor | protein binding | glucose-6-phosphatase activity | phosphate ion binding http://purl.obolibrary.org/obo/GO_0016773 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004346 | http://purl.obolibrary.org/obo/GO_0042301 | 32814053 | 10318794,12093795,15661744,8211187 | 12093795 http://nanbyodata.jp/ontology/NANDO_2201153 NANDO:2201153 小児慢性特定疾病 Specific pediatric chronic disease 糖原病Ia型 Glycogen storage disease type 1a MONDO:0009287 exactMatch http://glycosmos.org/glycogene/2542 2542 SLC37A4 glucose-6-phosphate transmembrane transporter activity | protein binding | glucose 6-phosphate:inorganic phosphate antiporter activity http://purl.obolibrary.org/obo/GO_0015152 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061513 11140953,12560945 | 32296183 | 18337460,21949678 http://nanbyodata.jp/ontology/NANDO_2201154 NANDO:2201154 小児慢性特定疾病 Specific pediatric chronic disease 糖原病Ib型 Glycogen storage disease type 1b MONDO:0009288 exactMatch http://glycosmos.org/glycogene/2588 2588 GALNS arylsulfatase activity | N-acetylgalactosamine-6-sulfatase activity | metal ion binding | N-acetylgalactosamine-4-sulfatase activity | sulfuric ester hydrolase activity http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0043890 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0008484 | | | 8325655 | 15962010 http://nanbyodata.jp/ontology/NANDO_2201178 NANDO:2201178 小児慢性特定疾病 Specific pediatric chronic disease A型ムコ多糖症IV型 Mucopolysaccharidosis type IV A MONDO:0009659 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_2201210 NANDO:2201210 小児慢性特定疾病 Specific pediatric chronic disease ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2201163 NANDO:2201163 小児慢性特定疾病 Specific pediatric chronic disease 成人型糖原病IV型 Glycogen storage disease type IV, adult form MONDO:0009897 exactMatch http://glycosmos.org/glycogene/2645 2645 GCK mannokinase activity | glucose binding | glucokinase activity | glucose sensor activity | ATP binding | fructokinase activity | protein binding http://purl.obolibrary.org/obo/GO_0019158 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0004340 | http://purl.obolibrary.org/obo/GO_0141089 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008865 | http://purl.obolibrary.org/obo/GO_0005515 | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183 http://nanbyodata.jp/ontology/NANDO_2201070 NANDO:2201070 小児慢性特定疾病 Specific pediatric chronic disease MODY2 Maturity-onset diabetes of the young type 2 MONDO:0007453 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_2201179 NANDO:2201179 小児慢性特定疾病 Specific pediatric chronic disease B型ムコ多糖症IV型 Mucopolysaccharidosis type IV B MONDO:0009660 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_2201196 NANDO:2201196 小児慢性特定疾病 Specific pediatric chronic disease 乳児型GM1-ガングリオシドーシス GM1 gangliosidosis, infantile form MONDO:0009260 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_2201197 NANDO:2201197 小児慢性特定疾病 Specific pediatric chronic disease 若年型GM1-ガングリオシドーシス GM1 gangliosidosis, juvenile form MONDO:0009261 exactMatch http://glycosmos.org/glycogene/2720 2720 GLB1 protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004565 | http://purl.obolibrary.org/obo/GO_0016936 | http://purl.obolibrary.org/obo/GO_0042803 15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166 http://nanbyodata.jp/ontology/NANDO_2201198 NANDO:2201198 小児慢性特定疾病 Specific pediatric chronic disease 成人型GM1-ガングリオシドーシス GM1 gangliosidosis, adult form MONDO:0009262 exactMatch http://glycosmos.org/glycogene/2760 2760 GM2A beta-N-acetylgalactosaminidase activity | lipid transporter activity | sphingolipid activator protein activity | phospholipase activator activity | protein binding http://purl.obolibrary.org/obo/GO_0032428 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0030290 | http://purl.obolibrary.org/obo/GO_0016004 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 28514442,33961781 http://nanbyodata.jp/ontology/NANDO_2201201 NANDO:2201201 小児慢性特定疾病 Specific pediatric chronic disease AB型GM2ガングリオシドーシス GM2 gangliosidosis AB variant MONDO:0010099 exactMatch http://glycosmos.org/glycogene/2799 2799 GNS glycosaminoglycan binding | N-acetylglucosamine-6-sulfatase activity | sulfuric ester hydrolase activity | sulfate binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0008449 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | 15595925 | 15962010 | | | 17474147 http://nanbyodata.jp/ontology/NANDO_2201177 NANDO:2201177 小児慢性特定疾病 Specific pediatric chronic disease D型ムコ多糖症III型 Mucopolysaccharidosis type III D MONDO:0009658 exactMatch http://glycosmos.org/glycogene/2811 2811 GP1BA protein binding | thrombin-activated receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015057 12183630,12855810,15039442,18674540,18789323,19828450,25666618,7721887 | 12855810 http://nanbyodata.jp/ontology/NANDO_2200668 NANDO:2200668 小児慢性特定疾病 Specific pediatric chronic disease 血小板型フォンウィルブランド病 Platelet-type von Willebrand disease MONDO:0008332 exactMatch http://glycosmos.org/glycogene/2997 2997 GYS1 glucose binding | protein binding | glycogen (starch) synthase activity | glycogen synthase activity, transferring glucose-1-phosphate http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0061547 | 10481074,16189514,16282323,17055998,24165324,25416956,28330616,28514442,32296183,33961781,35271311 | 19699667 | 21356517 http://nanbyodata.jp/ontology/NANDO_2201152 NANDO:2201152 小児慢性特定疾病 Specific pediatric chronic disease 糖原病0b型 Glycogen storage disease type 0b MONDO:0012693 exactMatch http://glycosmos.org/glycogene/2998 2998 GYS2 glycogen (starch) synthase activity | glycogen synthase activity, transferring glucose-1-phosphate http://purl.obolibrary.org/obo/GO_0004373 | http://purl.obolibrary.org/obo/GO_0061547 1731614,9691087 | http://nanbyodata.jp/ontology/NANDO_2201151 NANDO:2201151 小児慢性特定疾病 Specific pediatric chronic disease 糖原病0a型 Glycogen storage disease type 0a MONDO:0009414 exactMatch http://glycosmos.org/glycogene/4126 4126 MANBA mannose binding | beta-mannosidase activity http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0004567 | 30552791 http://nanbyodata.jp/ontology/NANDO_2201190 NANDO:2201190 小児慢性特定疾病 Specific pediatric chronic disease β-マンノシドーシス Beta-mannosidosis MONDO:0009562 exactMatch http://glycosmos.org/glycogene/4173 4173 MCM4 protein binding | DNA helicase activity | double-stranded DNA helicase activity | single-stranded DNA binding | ATP hydrolysis activity | forked DNA-dependent helicase activity | four-way junction helicase activity | single-stranded DNA helicase activity | ATP binding | single-stranded 3'-5' DNA helicase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003678 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0017116 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_1990518 12364596,15232106,16902406,17296731,22190034,22540012,23764002,24299456,24407287,25036637,28514442,33961781,35271311 | 25661590,9305914 | | 25661590 | | | | | | http://nanbyodata.jp/ontology/NANDO_2200771 NANDO:2200771 小児慢性特定疾病 Specific pediatric chronic disease MCM4遺伝子異常症 MCM4 mutation MONDO:0012383 exactMatch http://glycosmos.org/glycogene/4179 4179 CD46 protein binding | signaling receptor activity | virus receptor activity | cadherin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0045296 18796626,23086448,32296183 | 8402913 | | 23086448 http://nanbyodata.jp/ontology/NANDO_2200803 NANDO:2200803 小児慢性特定疾病 Specific pediatric chronic disease CD46欠損症 CD46 deficiency MONDO:0013040 exactMatch http://glycosmos.org/glycogene/4512 4512 COX1 heme binding | metal ion binding | protein binding | cytochrome-c oxidase activity http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129 | | 12762840,23260140,26321642,29154948,33961781 | 12140182 http://nanbyodata.jp/ontology/NANDO_2200525 NANDO:2200525 小児慢性特定疾病 Specific pediatric chronic disease MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:0010789 exactMatch http://glycosmos.org/glycogene/4540 4540 ND5 NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137 | 15250827,3921850 http://nanbyodata.jp/ontology/NANDO_2200525 NANDO:2200525 小児慢性特定疾病 Specific pediatric chronic disease MELAS Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) MONDO:0010789 exactMatch http://glycosmos.org/glycogene/4540 4540 ND5 NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137 | 15250827,3921850 http://nanbyodata.jp/ontology/NANDO_2200526 NANDO:2200526 小児慢性特定疾病 Specific pediatric chronic disease 赤色ぼろ線維・ミオクローヌスてんかん症候群 Myoclonus epilepsy associated with ragged-red fibers MONDO:0010790 exactMatch http://glycosmos.org/glycogene/4548 4548 MTR cobalamin binding | protein binding | methionine synthase activity | zinc ion binding http://purl.obolibrary.org/obo/GO_0031419 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008705 | http://purl.obolibrary.org/obo/GO_0008270 | 17288554,23825108,27771510 | 16769880,23825108 | http://nanbyodata.jp/ontology/NANDO_2201111 NANDO:2201111 小児慢性特定疾病 Specific pediatric chronic disease コバラミン代謝異常 cblG Methylcobalamin deficiency cblG type MONDO:0009609 exactMatch http://glycosmos.org/glycogene/4625 4625 MYH7 ATP binding | actin filament binding | protein binding | calmodulin binding | microfilament motor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0000146 | | 17192269,20847312,25416956,32296183 | | 15621050,16088376,3021460 http://nanbyodata.jp/ontology/NANDO_2201042 NANDO:2201042 小児慢性特定疾病 Specific pediatric chronic disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/4669 4669 NAGLU alpha-N-acetylglucosaminidase activity http://purl.obolibrary.org/obo/GO_0004561 "" http://nanbyodata.jp/ontology/NANDO_2201175 NANDO:2201175 小児慢性特定疾病 Specific pediatric chronic disease B型ムコ多糖症III型 Mucopolysaccharidosis type III B MONDO:0009656 exactMatch http://glycosmos.org/glycogene/4719 4719 NDUFS1 NADH dehydrogenase (ubiquinone) activity | 4 iron, 4 sulfur cluster binding | 2 iron, 2 sulfur cluster binding | protein binding | metal ion binding | electron transfer activity http://purl.obolibrary.org/obo/GO_0008137 | http://purl.obolibrary.org/obo/GO_0051539 | http://purl.obolibrary.org/obo/GO_0051537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0009055 15824269,16478720,16870178,30879903,31557978,9878551 | | | 15186778,30879903,32807793,32814053 | | 1935949 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_2201192 NANDO:2201192 小児慢性特定疾病 Specific pediatric chronic disease シアリドーシスII型 Sialidosis type 2 MONDO:0009738 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_2201193 NANDO:2201193 小児慢性特定疾病 Specific pediatric chronic disease 新生児及び早期乳児型ガラクトシアリドーシス Galactosialidosis, early infantile form MONDO:0009738 closeMatch http://glycosmos.org/glycogene/4942 4942 OAT ornithine aminotransferase activity | pyridoxal phosphate binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0004587 | http://purl.obolibrary.org/obo/GO_0030170 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 1737786,23076989 | | 23076989 | 32814053 http://nanbyodata.jp/ontology/NANDO_2200486 NANDO:2200486 小児慢性特定疾病 Specific pediatric chronic disease 脳回転状脈絡膜網膜萎縮症を伴う高オルニチン血症 Gyrate atrophy of choroid and retina MONDO:0009796 closeMatch http://glycosmos.org/glycogene/7098 7098 TLR3 double-stranded RNA binding | identical protein binding | pattern recognition receptor activity | signaling receptor activity | transmembrane signaling receptor activity | ubiquitin-like protein ligase binding | protein binding http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0044389 | http://purl.obolibrary.org/obo/GO_0005515 12054664,16111635 | 18172197,23155421,25217833 | 16720699,17128265 | | 12054664,12471095 | | 16858407,25736436,33432245 http://nanbyodata.jp/ontology/NANDO_2200772 NANDO:2200772 小児慢性特定疾病 Specific pediatric chronic disease 単純ヘルペス脳炎 Herpes simplex encephalitis MONDO:0012521 exactMatch http://glycosmos.org/glycogene/7137 7137 TNNI3 calcium channel inhibitor activity | troponin T binding | protein kinase binding | actin filament binding | calcium-dependent protein binding | protein binding | troponin C binding | actin binding | protein domain specific binding http://purl.obolibrary.org/obo/GO_0019855 | http://purl.obolibrary.org/obo/GO_0031014 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030172 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0019904 12809519 | 15542288 | 12721663 | 25771144 | 7957210 | 10806205,12525172,12721663,12809519,12840750,16516408,18986304,21569246,23369981,25910212,28514442,29997244,32296183,32814053,33961781 | 11735257,15542288,7957210 | 10806205 | 11984006 http://nanbyodata.jp/ontology/NANDO_2201042 NANDO:2201042 小児慢性特定疾病 Specific pediatric chronic disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/7291 7291 TWIST1 DNA-binding transcription factor binding | RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | histone deacetylase binding | cis-regulatory region sequence-specific DNA binding | protein binding | bHLH transcription factor binding | DNA-binding transcription repressor activity | E-box binding | protein domain specific binding | protein homodimerization activity | transcription coregulator binding http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042826 | http://purl.obolibrary.org/obo/GO_0000987 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043425 | http://purl.obolibrary.org/obo/GO_0001217 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0001221 15545268 | | 17332325 | | 27027434 | 10749989,11248247,18504427,18598946,19534813,21983900,22975381,24525235,25402006,25609649,25893917,28514442,32814053,33961781 | 10749989 | 27027434 | 17332325,20804746 | | | http://nanbyodata.jp/ontology/NANDO_2200848 NANDO:2200848 小児慢性特定疾病 Specific pediatric chronic disease Seather-Chotzen症候群 Saethre-Chotzen syndrome MONDO:0007042 exactMatch http://glycosmos.org/glycogene/9663 9663 LPIN2 phosphatidate phosphatase activity | transcription coactivator activity http://purl.obolibrary.org/obo/GO_0008195 | http://purl.obolibrary.org/obo/GO_0003713 18694939 | http://nanbyodata.jp/ontology/NANDO_2200453 NANDO:2200453 小児慢性特定疾病 Specific pediatric chronic disease Majeed症候群 Majeed syndrome MONDO:0012316 exactMatch http://glycosmos.org/glycogene/79092 79092 CARD14 CARD domain binding | protein binding http://purl.obolibrary.org/obo/GO_0050700 | http://purl.obolibrary.org/obo/GO_0005515 11278692 | 27071417,32296183 http://nanbyodata.jp/ontology/NANDO_2200443 NANDO:2200443 小児慢性特定疾病 Specific pediatric chronic disease CARD14異常症 CARD14 deficiency MONDO:0011269 exactMatch http://glycosmos.org/glycogene/147138 147138 TMC8 protein sequestering activity | mechanosensitive monoatomic ion channel activity | protein binding | tumor necrosis factor binding http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0008381 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043120 23429285 | | 18158319,30068544,32917726 | 23429285 http://nanbyodata.jp/ontology/NANDO_2200768 NANDO:2200768 小児慢性特定疾病 Specific pediatric chronic disease 疣贅状表皮発育異常症 Epidermodysplasia verruciformis MONDO:0009176 exactMatch http://glycosmos.org/glycogene/55315 55315 SLC29A3 organic cation transmembrane transporter activity | neurotransmitter transmembrane transporter activity | nucleoside transmembrane transporter activity | monoamine transmembrane transporter activity | nucleobase transmembrane transporter activity | cytidine transmembrane transporter activity | uridine transmembrane transporter activity | protein binding | uracil transmembrane transporter activity | guanine transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015101 | http://purl.obolibrary.org/obo/GO_0005326 | http://purl.obolibrary.org/obo/GO_0005337 | http://purl.obolibrary.org/obo/GO_0008504 | http://purl.obolibrary.org/obo/GO_0015205 | http://purl.obolibrary.org/obo/GO_0015212 | http://purl.obolibrary.org/obo/GO_0015213 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015210 | http://purl.obolibrary.org/obo/GO_0015208 19164483 | 19164483 | 15701636,19164483,20595384,28729424 | 19164483 | 19164483 | 19164483 | 19164483,28729424 | 25910212 | 19164483 | 19164483 http://nanbyodata.jp/ontology/NANDO_2200457 NANDO:2200457 小児慢性特定疾病 Specific pediatric chronic disease SLC29A3異常症 SLC29A3 deficiency MONDO:0011273 exactMatch http://glycosmos.org/glycogene/201294 201294 UNC13D protein binding | small GTPase binding | metal ion binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0046872 15548590,16278825,25312756,26627825,33513601 | 22899725 | http://nanbyodata.jp/ontology/NANDO_2200729 NANDO:2200729 小児慢性特定疾病 Specific pediatric chronic disease UNC13D/Munc13-4欠損症 UNC13D/Munc13-4 deficiency MONDO:0012146 exactMatch http://glycosmos.org/glycogene/716 716 C1S protein binding | serine-type endopeptidase activity | calcium ion binding | metal ion binding | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 12788922,17996945,2387866,25359215,25910212,28514442,28742139,31749804,32296183,33961781 | 11527969 | | | 12788922,2387866 http://nanbyodata.jp/ontology/NANDO_2200779 NANDO:2200779 小児慢性特定疾病 Specific pediatric chronic disease C1s 欠損症 C1s deficiency MONDO:0013419 exactMatch http://glycosmos.org/glycogene/717 717 C2 serine-type endopeptidase activity | protein binding | metal ion binding http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | 25910212,28742139,32296183 | http://nanbyodata.jp/ontology/NANDO_2200781 NANDO:2200781 小児慢性特定疾病 Specific pediatric chronic disease C2 欠損症 C2 deficiency MONDO:0009006 exactMatch http://glycosmos.org/glycogene/718 718 C3 signaling receptor binding | C5L2 anaphylatoxin chemotactic receptor binding | receptor ligand activity | endopeptidase inhibitor activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0031715 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 9164946 | 15833747 | 21527715 | | 11387479,11705926,12438350,12540846,16530040,16612335,17051150,18796626,19255449,20042240,21317894,21527715,21979047,22518841,23086448,24260121,26627825,27814381,28671664,32034129,32296183,33961781,37207277,7483825 http://nanbyodata.jp/ontology/NANDO_2200782 NANDO:2200782 小児慢性特定疾病 Specific pediatric chronic disease C3 欠損症 C3 deficiency MONDO:0013417 exactMatch http://glycosmos.org/glycogene/727 727 C5 signaling receptor binding | endopeptidase inhibitor activity | chemokine activity | protein binding http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0008009 | http://purl.obolibrary.org/obo/GO_0005515 10820279,9590258 | | 10820279 | 19528535,21217642,25416956,32296183 http://nanbyodata.jp/ontology/NANDO_2200783 NANDO:2200783 小児慢性特定疾病 Specific pediatric chronic disease C5 欠損症 C5 deficiency MONDO:0012295 exactMatch http://glycosmos.org/glycogene/729 729 C6 protein binding http://purl.obolibrary.org/obo/GO_0005515 17474147 http://nanbyodata.jp/ontology/NANDO_2200784 NANDO:2200784 小児慢性特定疾病 Specific pediatric chronic disease C6 欠損症 C6 deficiency MONDO:0012908 exactMatch http://glycosmos.org/glycogene/730 730 C7 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200785 NANDO:2200785 小児慢性特定疾病 Specific pediatric chronic disease C7 欠損症 C7 deficiency MONDO:0012412 exactMatch http://glycosmos.org/glycogene/735 735 C9 protein binding http://purl.obolibrary.org/obo/GO_0005515 28514442,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2200787 NANDO:2200787 小児慢性特定疾病 Specific pediatric chronic disease C9 欠損症 C9 deficiency MONDO:0013445 exactMatch http://glycosmos.org/glycogene/26235 26235 FBXL4 protein binding | ubiquitin ligase-substrate adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990756 32814053 | 38992176 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/80704 80704 SLC19A3 thiamine transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015234 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/950 950 SCARB2 protein-folding chaperone binding | protein homodimerization activity | cargo receptor activity | transmembrane signaling receptor activity | scavenger receptor activity | phosphatidylcholine binding | phosphatidylserine binding | cholesterol binding | virus receptor activity | enzyme binding | protein binding http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0038024 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005044 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0001786 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201210 NANDO:2201210 小児慢性特定疾病 Specific pediatric chronic disease ゴーシェ病1型 Gaucher disease type 1 MONDO:0009265 exactMatch http://glycosmos.org/glycogene/966 966 CD59 protein binding | complement binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001848 17500595,20427317,24036449,32296183,32814053 | http://nanbyodata.jp/ontology/NANDO_2200804 NANDO:2200804 小児慢性特定疾病 Specific pediatric chronic disease CD59欠損症 Primary CD59 deficiency MONDO:0012858 exactMatch http://glycosmos.org/glycogene/55788 55788 LMBRD1 clathrin heavy chain binding | cobalamin binding | protein binding | protein transporter activity | AP-2 adaptor complex binding | insulin receptor binding http://purl.obolibrary.org/obo/GO_0032050 | http://purl.obolibrary.org/obo/GO_0031419 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140318 | http://purl.obolibrary.org/obo/GO_0035612 | http://purl.obolibrary.org/obo/GO_0005158 | | 25535791,27456980,28572511,32296183,33845046 | 27456980,33845046 | | http://nanbyodata.jp/ontology/NANDO_2201110 NANDO:2201110 小児慢性特定疾病 Specific pediatric chronic disease コバラミン代謝異常 cblF Methylmalonic acidemia and homocystinuria cblF type MONDO:0010183 exactMatch http://glycosmos.org/glycogene/3030 3030 HADHA NAD+ binding | protein-containing complex binding | long-chain-3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-acetyltransferase activity | 3-hydroxyacyl-CoA dehydratase activity | 3-hydroxyacyl-CoA dehydrogenase activity | fatty-acyl-CoA binding | protein binding http://purl.obolibrary.org/obo/GO_0070403 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0016509 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0018812 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0005515 | | | | 8135828 | | 8135828 | | 20562859,28514442,29915090,30850536,32814053,33961781 http://nanbyodata.jp/ontology/NANDO_2201147 NANDO:2201147 小児慢性特定疾病 Specific pediatric chronic disease 発症前型三頭酵素欠損症 Presymptomatic trifunctional protein deficiency MONDO:0012172 closeMatch http://glycosmos.org/glycogene/3032 3032 HADHB lncRNA binding | acetyl-CoA C-acyltransferase activity | acetyl-CoA C-acetyltransferase activity | RNA binding | 3-hydroxyacyl-CoA dehydrogenase activity | enoyl-CoA hydratase activity | acetyl-CoA C-myristoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0003988 | http://purl.obolibrary.org/obo/GO_0003985 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003857 | http://purl.obolibrary.org/obo/GO_0004300 | http://purl.obolibrary.org/obo/GO_0050633 | http://purl.obolibrary.org/obo/GO_0005515 | 8135828 | | 22658674 | 1550553 | 1550553 | | 20562859,21527675,28514442,29915090,30850536,32243843,33961781 http://nanbyodata.jp/ontology/NANDO_2201147 NANDO:2201147 小児慢性特定疾病 Specific pediatric chronic disease 発症前型三頭酵素欠損症 Presymptomatic trifunctional protein deficiency MONDO:0012172 closeMatch http://glycosmos.org/glycogene/3073 3073 HEXA acetylglucosaminyltransferase activity | protein heterodimerization activity | beta-N-acetylhexosaminidase activity | N-acetyl-beta-D-galactosaminidase activity | protein binding | beta-N-acetylglucosaminidase activity http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0004563 | http://purl.obolibrary.org/obo/GO_0102148 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016231 25645918 | 6230359 | 8123671,8672428,9694901 | | 16698036,28514442,33961781 | http://nanbyodata.jp/ontology/NANDO_2201199 NANDO:2201199 小児慢性特定疾病 Specific pediatric chronic disease テイ・サックス病 Tay-Sachs disease MONDO:0010100 exactMatch http://glycosmos.org/glycogene/3074 3074 HEXB beta-N-acetylglucosaminidase activity | identical protein binding | protein binding | N-acetyl-beta-D-galactosaminidase activity | acetylglucosaminyltransferase activity | beta-N-acetylhexosaminidase activity http://purl.obolibrary.org/obo/GO_0016231 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0102148 | http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0004563 | 6230359 | 16698036,28514442,32296183,32814053,33961781 | | 25645918 | 8123671,8672428 http://nanbyodata.jp/ontology/NANDO_2201200 NANDO:2201200 小児慢性特定疾病 Specific pediatric chronic disease サンドホフ病 Sandhoff disease MONDO:0010006 exactMatch http://glycosmos.org/glycogene/3075 3075 CFH identical protein binding | complement component C3b binding | protein binding | heparan sulfate proteoglycan binding | heparin binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0008201 19505476,19850925,26468283 | | 16612335,17244159,17293598,17339482,17399790,18627465,18786923,19050261,19084272,19225461,19632990,19680263,19850925,20042240,21317894,21930971,21979047,22786770,23332154,24835392,26468283,26538390,28258151,28533443,28671664,29374201 | 22471560 | 22471560 http://nanbyodata.jp/ontology/NANDO_2200791 NANDO:2200791 小児慢性特定疾病 Specific pediatric chronic disease Factor H 欠損症 Factor H deficiency MONDO:0012350 exactMatch http://glycosmos.org/glycogene/3155 3155 HMGCL magnesium ion binding | hydroxymethylglutaryl-CoA lyase activity | manganese ion binding | structural molecule activity | metal ion binding http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004419 | http://purl.obolibrary.org/obo/GO_0030145 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0046872 9200711 | 12464283,22847177,22865860,8027038,8670134,9200711,9869651 | 9200711 | 12464283 | 16330550 http://nanbyodata.jp/ontology/NANDO_2201119 NANDO:2201119 小児慢性特定疾病 Specific pediatric chronic disease 発症前型3-ヒドロキシ-3-メチルグルタル酸血症 Presymptomatic 3-hydroxy-3-methylglutaric acidemia MONDO:0009520 closeMatch http://glycosmos.org/glycogene/3172 3172 HNF4A DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | signaling receptor binding | nuclear receptor activity | sequence-specific double-stranded DNA binding | fatty acid binding | protein binding | protein homodimerization activity | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | zinc ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005504 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003682 10330009,12911579,16488887,7615825 | | 12220494 | 12193589 | 28473536 | 12220494 | 12855700,16488887,17932483,17978169,19549071,19846556,21532585,23714182,23714368,25910212,28128295,30530698,33961781,35140242 | 12220494 | 10551874,7615825 | | 16488887 | | | | http://nanbyodata.jp/ontology/NANDO_2201069 NANDO:2201069 小児慢性特定疾病 Specific pediatric chronic disease MODY1 Maturity-onset diabetes of the young type 1 MONDO:0007452 exactMatch http://glycosmos.org/glycogene/3172 3172 HNF4A DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | signaling receptor binding | nuclear receptor activity | sequence-specific double-stranded DNA binding | fatty acid binding | protein binding | protein homodimerization activity | DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | transcription cis-regulatory region binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | zinc ion binding | chromatin binding http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005504 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0003682 10330009,12911579,16488887,7615825 | | 12220494 | 12193589 | 28473536 | 12220494 | 12855700,16488887,17932483,17978169,19549071,19846556,21532585,23714182,23714368,25910212,28128295,30530698,33961781,35140242 | 12220494 | 10551874,7615825 | | 16488887 | | | | http://nanbyodata.jp/ontology/NANDO_2201073 NANDO:2201073 小児慢性特定疾病 Specific pediatric chronic disease MODY5 Maturity-onset diabetes of the young type 5 MONDO:0007669 exactMatch http://glycosmos.org/glycogene/3207 3207 HOXA11 sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 28473536 | | http://nanbyodata.jp/ontology/NANDO_2200660 NANDO:2200660 小児慢性特定疾病 Specific pediatric chronic disease 橈骨尺骨融合を伴う血小板減少症 Congenital thrombocytopenia with radio-ulnar synostosis MONDO:0011555 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_2201203 NANDO:2201203 小児慢性特定疾病 Specific pediatric chronic disease 若年型異染性白質ジストロフィー Metachromatic leukodystrophy, juvenile form MONDO:0009591 exactMatch http://glycosmos.org/glycogene/5054 5054 SERPINE1 protease binding | protein binding | signaling receptor binding | serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004867 12114510,15853774,2503541,8508955,8626514 | 16272158,22449964,25416956,28296156,32296183,33961781 | 8626514 | 1695900,8508955 http://nanbyodata.jp/ontology/NANDO_2200688 NANDO:2200688 小児慢性特定疾病 Specific pediatric chronic disease 先天性プラスミノゲンアクチベータインヒビター1欠乏症 Congenital plasminogen activator inhibitor-1 deficiency MONDO:0013227 exactMatch http://glycosmos.org/glycogene/5160 5160 PDHA1 pyruvate dehydrogenase (acetyl-transferring) activity | protein binding | metal ion binding | pyruvate dehydrogenase (NAD+) activity http://purl.obolibrary.org/obo/GO_0004739 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0034604 19081061 | 12651851,19081061,29128334,29568061,33961781,35156780,36012204,7782287 | | http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/5199 5199 CFP protein binding http://purl.obolibrary.org/obo/GO_0005515 22518841,24355864,26984957,28086806,28480349,28533443,32296183 http://nanbyodata.jp/ontology/NANDO_2200789 NANDO:2200789 小児慢性特定疾病 Specific pediatric chronic disease Properdin 欠損症 Properdin deficiency MONDO:0010713 exactMatch http://glycosmos.org/glycogene/5255 5255 PHKA1 protein binding | calmodulin binding | phosphorylase kinase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004689 32296183 | | 8226841 http://nanbyodata.jp/ontology/NANDO_2201167 NANDO:2201167 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IXd型 Glycogen storage disease type IXd MONDO:0010362 exactMatch http://glycosmos.org/glycogene/5256 5256 PHKA2 phosphorylase kinase activity | protein binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 7549948 | 23455922,26496610,28514442,32296183,32707033,32814053,33961781,35271311 | http://nanbyodata.jp/ontology/NANDO_2201164 NANDO:2201164 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IXa型 Glycogen storage disease type IXa MONDO:0010598 exactMatch http://glycosmos.org/glycogene/5257 5257 PHKB calmodulin binding | protein binding http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515 | 21418524,25051373,25416956,32296183 http://nanbyodata.jp/ontology/NANDO_2201165 NANDO:2201165 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IXb型 Glycogen storage disease type IXb MONDO:0009868 exactMatch http://glycosmos.org/glycogene/5260 5260 PHKG1 enzyme binding | histone H4S1 kinase activity | histone H3T11 kinase activity | protein serine kinase activity | phosphorylase kinase activity | histone H2BS14 kinase activity | histone H2AS1 kinase activity | ATP binding | ribosomal protein S6 kinase activity | DNA-dependent protein kinase activity | histone H3T6 kinase activity | histone H2BS36 kinase activity | tau-protein kinase activity | calmodulin binding | histone H2AXS139 kinase activity | AMP-activated protein kinase activity | histone H2AT120 kinase activity | histone H3S57 kinase activity | histone H3T45 kinase activity | histone H3S28 kinase activity | histone H2AS121 kinase activity | histone H3T3 kinase activity | Rho-dependent protein serine/threonine kinase activity | 3-phosphoinositide-dependent protein kinase activity | histone H3S10 kinase activity | eukaryotic translation initiation factor 2alpha kinase activity http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0050321 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004694 | | | | | | | | | | | | | | | | | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201167 NANDO:2201167 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IXd型 Glycogen storage disease type IXd MONDO:0010362 exactMatch http://glycosmos.org/glycogene/5261 5261 PHKG2 ATP binding | tau-protein kinase activity | phosphorylase kinase activity | enzyme binding | protein binding | calmodulin binding | protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050321 | http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0004674 | | 10487978 | | 23455922,26496610,28514442,32296183,32707033,33961781,35271311 | | 10487978 http://nanbyodata.jp/ontology/NANDO_2201166 NANDO:2201166 小児慢性特定疾病 Specific pediatric chronic disease 糖原病IXc型 Glycogen storage disease type IXc MONDO:0013091 exactMatch http://glycosmos.org/glycogene/5345 5345 SERPINF2 protein homodimerization activity | serine-type endopeptidase inhibitor activity | endopeptidase inhibitor activity | protein binding | protease binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 134998 | 12878203,134998 | 7679575 | 12878203,14687906 | 134998,15853774,17317851,6980881,7679575 http://nanbyodata.jp/ontology/NANDO_2200687 NANDO:2200687 小児慢性特定疾病 Specific pediatric chronic disease 先天性α2-プラスミンインヒビター欠乏症 Alpha-2-plasmin inhibitor deficiency MONDO:0009883 exactMatch http://glycosmos.org/glycogene/5052 5052 PRDX1 cadherin binding | identical protein binding | thioredoxin peroxidase activity | protein binding | peroxidase activity | RNA binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008379 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0003723 25468996 | | 18606987 | 15105503,17909037,18172504,19369943,21044950,21969592,21988832,23386615,27607350,28671123,32814053,33961781 | 11986303 | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2201107 NANDO:2201107 小児慢性特定疾病 Specific pediatric chronic disease コバラミン代謝異常 cblC Methylmalonic aciduria and homocystinuria, cblC type MONDO:0010184 exactMatch http://glycosmos.org/glycogene/5551 5551 PRF1 pore-forming activity | protein binding | identical protein binding | wide pore channel activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0140911 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0022829 | http://purl.obolibrary.org/obo/GO_0005509 | 11911826,25416956,32296183 | 21037563,21685908 | 20038786,20889983,24558045 | http://nanbyodata.jp/ontology/NANDO_2200728 NANDO:2200728 小児慢性特定疾病 Specific pediatric chronic disease パーフォリン欠損症 Perforin deficiency MONDO:0011337 exactMatch http://glycosmos.org/glycogene/51422 51422 PRKAG2 protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase regulator activity | protein kinase regulator activity | ATP binding | phosphorylase kinase regulator activity | AMP binding | cAMP-dependent protein kinase inhibitor activity | AMP-activated protein kinase activity | ADP binding http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0008603 | http://purl.obolibrary.org/obo/GO_0019887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008607 | http://purl.obolibrary.org/obo/GO_0016208 | http://purl.obolibrary.org/obo/GO_0004862 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0043531 10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279 http://nanbyodata.jp/ontology/NANDO_2201042 NANDO:2201042 小児慢性特定疾病 Specific pediatric chronic disease 閉塞性肥大型心筋症 Hypertrophic obstructive cardiomyopathy MONDO:0005045 closeMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_2201203 NANDO:2201203 小児慢性特定疾病 Specific pediatric chronic disease 若年型異染性白質ジストロフィー Metachromatic leukodystrophy, juvenile form MONDO:0009591 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_2201205 NANDO:2201205 小児慢性特定疾病 Specific pediatric chronic disease サポシンB欠損症 Saposin B deficiency MONDO:0009590 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201052 NANDO:2201052 小児慢性特定疾病 Specific pediatric chronic disease MEN2A Multiple endocrine neoplasia type 2A MONDO:0008234 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201053 NANDO:2201053 小児慢性特定疾病 Specific pediatric chronic disease MEN2B Multiple endocrine neoplasia type 2B MONDO:0008082 exactMatch http://glycosmos.org/glycogene/6389 6389 SDHA flavin adenine dinucleotide binding | succinate dehydrogenase (ubiquinone) activity | electron transfer activity | protein binding http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0008177 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515 | 24781757,7550341 | | 15961414,19628817,19688755,23747254,24606901,26496610,26618866,26749241,28330616,28514442,29924966,31324722,33961781,35156780 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/6448 6448 SGSH sulfuric ester hydrolase activity | metal ion binding | N-sulfoglucosamine sulfohydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016250 | http://purl.obolibrary.org/obo/GO_0005515 | | 15146460,7493035 | 15962010,33961781 http://nanbyodata.jp/ontology/NANDO_2201174 NANDO:2201174 小児慢性特定疾病 Specific pediatric chronic disease A型ムコ多糖症III型 Mucopolysaccharidosis type III A MONDO:0009655 exactMatch http://glycosmos.org/glycogene/6452 6452 SH3BP2 phosphotyrosine residue binding | protein binding | SH3 domain binding http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0017124 20624904 | 11390470,15345594,17306257,22153076,22153077,24728074,32296183 | http://nanbyodata.jp/ontology/NANDO_2200444 NANDO:2200444 小児慢性特定疾病 Specific pediatric chronic disease ケルビズム Cherubism MONDO:0007315 exactMatch http://glycosmos.org/glycogene/6609 6609 SMPD1 zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061750 | http://purl.obolibrary.org/obo/GO_0004767 | http://purl.obolibrary.org/obo/GO_0034480 | http://purl.obolibrary.org/obo/GO_0016798 | http://purl.obolibrary.org/obo/GO_0005515 8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428 http://nanbyodata.jp/ontology/NANDO_2201206 NANDO:2201206 小児慢性特定疾病 Specific pediatric chronic disease ニーマン・ピック病A型 Niemann-Pick disease type A MONDO:0009756 exactMatch http://glycosmos.org/glycogene/6609 6609 SMPD1 zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0061750 | http://purl.obolibrary.org/obo/GO_0004767 | http://purl.obolibrary.org/obo/GO_0034480 | http://purl.obolibrary.org/obo/GO_0016798 | http://purl.obolibrary.org/obo/GO_0005515 8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428 http://nanbyodata.jp/ontology/NANDO_2201207 NANDO:2201207 小児慢性特定疾病 Specific pediatric chronic disease ニーマン・ピック病B型 Niemann-Pick disease type B MONDO:0011871 exactMatch http://glycosmos.org/glycogene/6708 6708 SPTA1 calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0051015 | 12820899,20197550,32296183,33961781,9593709 | 1634521 | http://nanbyodata.jp/ontology/NANDO_2200631 NANDO:2200631 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性熱変形赤血球症 Hereditary pyropoikilocytosis MONDO:0009948 exactMatch http://glycosmos.org/glycogene/8803 8803 SUCLA2 succinate-CoA ligase (ADP-forming) activity | ATP binding | magnesium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0004775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0005515 10727444 | | | 10727444,14643893,26871637,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/81622 81622 UNC93B1 protein binding | Toll-like receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035325 22164301,30833792,32296183,33845483,33961781 | 33432245 http://nanbyodata.jp/ontology/NANDO_2200772 NANDO:2200772 小児慢性特定疾病 Specific pediatric chronic disease 単純ヘルペス脳炎 Herpes simplex encephalitis MONDO:0012521 exactMatch http://glycosmos.org/glycogene/64170 64170 CARD9 metal ion binding | CARD domain binding | protein homodimerization activity | protein binding | identical protein binding | signaling adaptor activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0050700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0035591 | 11053425,26488816,31296852 | 11053425 | 22267217,25416956,26871637,29892012,31515488,32296183,32814053,36217029 | 32296183 | 11053425 http://nanbyodata.jp/ontology/NANDO_2200773 NANDO:2200773 小児慢性特定疾病 Specific pediatric chronic disease CARD9欠損症 CARD9 deficiency MONDO:0008905 exactMatch http://glycosmos.org/glycogene/326625 326625 MMAB transferase activity, transferring alkyl or aryl (other than methyl) groups | protein binding | cobalamin binding | ATP binding | corrinoid adenosyltransferase activity http://purl.obolibrary.org/obo/GO_0016765 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031419 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008817 12514191 | 25910212,32814053,33961781 | 28497574 | | 12514191,15913339,30282455,33797888 http://nanbyodata.jp/ontology/NANDO_2201106 NANDO:2201106 小児慢性特定疾病 Specific pediatric chronic disease コバラミン代謝異常 cblB Methylmalonic acidemia cblB type MONDO:0009614 exactMatch http://glycosmos.org/glycogene/196527 196527 ANO6 protein binding | metal ion binding | voltage-gated monoatomic ion channel activity | chloride channel activity | voltage-gated chloride channel activity | intracellular calcium activated chloride channel activity | calcium-activated cation channel activity | protein dimerization activity | phospholipid scramblase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005244 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0005247 | http://purl.obolibrary.org/obo/GO_0005229 | http://purl.obolibrary.org/obo/GO_0005227 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0017128 25589784,25651887 | | | | 22006324 | 21984732,22946059 | 22946059,25651887 | | 30700552 http://nanbyodata.jp/ontology/NANDO_2200671 NANDO:2200671 小児慢性特定疾病 Specific pediatric chronic disease スコット症候群 Scott syndrome MONDO:0009885 exactMatch http://glycosmos.org/glycogene/91942 91942 NDUFAF2 protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 16200211 | 32296183,33961781,34819669,38949024 http://nanbyodata.jp/ontology/NANDO_2200527 NANDO:2200527 小児慢性特定疾病 Specific pediatric chronic disease リー症候群 Leigh syndrome MONDO:0009723 exactMatch http://glycosmos.org/glycogene/8772 8772 FADD caspase binding | protein-macromolecule adaptor activity | signaling adaptor activity | protein binding | protease binding | death effector domain binding | protein-containing complex binding | receptor serine/threonine kinase binding | death receptor binding | tumor necrosis factor receptor superfamily binding | tumor necrosis factor receptor binding | identical protein binding http://purl.obolibrary.org/obo/GO_0089720 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0035877 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0033612 | http://purl.obolibrary.org/obo/GO_0005123 | http://purl.obolibrary.org/obo/GO_0032813 | http://purl.obolibrary.org/obo/GO_0005164 | http://purl.obolibrary.org/obo/GO_0042802 24025841,9343261 | 16762833,8565075 | | 10442631,10880445,11112409,12702765,12887920,14612908,15688372,16127453,16498403,17047155,17159907,18328427,18485876,18846110,19060883,19118384,19176810,19524512,19524513,20103630,20890306,20935634,21382479,21458669,21525013,21625644,21713032,21785459,21803845,21988832,22173242,22274400,22510408,23955153,24025841,25043603,25241761,25911380,26942442,30561431,32296183,32707033,33961781,34591612,7536190,7538907,8681376,9208847,9343261 | 21785459,9208847 | 11717445 | | | | 21109225 | | 25502805,30561431,31515488,32296183,7536190,8681376 http://nanbyodata.jp/ontology/NANDO_2200741 NANDO:2200741 小児慢性特定疾病 Specific pediatric chronic disease FADD欠損症 Fas-associated death domain protein deficiency MONDO:0013408 exactMatch http://glycosmos.org/glycogene/8547 8547 FCN3 identical protein binding | antigen binding | metal ion binding | protein binding | signaling receptor binding | carbohydrate binding | carbohydrate derivative binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003823 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0097367 19109177 | 22851708 | | 11907111,19939495,21035894,22854970,23460739,23785123,27141819,32094208 | | | http://nanbyodata.jp/ontology/NANDO_2200794 NANDO:2200794 小児慢性特定疾病 Specific pediatric chronic disease Ficolin3 関連免疫不全症 Ficolin 3 Deficiency MONDO:0013467 exactMatch http://glycosmos.org/glycogene/8546 8546 AP3B1 GTP-dependent protein binding | protein binding | protein phosphatase binding http://purl.obolibrary.org/obo/GO_0030742 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019903 22511774 | 19934039,24725412,27424887,32814053 | 17622474 http://nanbyodata.jp/ontology/NANDO_2200733 NANDO:2200733 小児慢性特定疾病 Specific pediatric chronic disease Hermansky-Pudlak症候群2型 Hermansky-Pudlak syndrome type 2 MONDO:0011997 exactMatch http://glycosmos.org/glycogene/4000 4000 LMNA structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0160123 | http://purl.obolibrary.org/obo/GO_0005200 3453101,8344919 | 25910212 | 10381623,10514485,10727209,11313760,11587540,11801724,14597414,15140953,15161933,15671068,16247757,19323649,19933576,20000738,20467437,20580717,20618440,21346760,21418524,21949239,21988832,21993218,22399800,22555292,23539603,23658700,23977161,24375709,24981860,25399868,25416956,25910212,26524528,29568061,29997244,30021884,30488537,31467278,31515488,31548606,32296183,32814053,33961781,35271311,35311970,37398436 | 2188730,2344612,24741066,37788673,37832547 | http://nanbyodata.jp/ontology/NANDO_2200866 NANDO:2200866 小児慢性特定疾病 Specific pediatric chronic disease LMNA遺伝子変異型筋ジストロフィー LMNA-related congenital muscular dystrophy MONDO:0013178 exactMatch http://glycosmos.org/glycogene/51206 51206 GP6 collagen receptor activity | signaling receptor activity | transmembrane signaling receptor activity | protein binding | collagen binding | protein tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0038064 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_1990782 | 11027634 | 10822077 | 1715582,19940238 | 11027634 | 31145836 http://nanbyodata.jp/ontology/NANDO_2200670 NANDO:2200670 小児慢性特定疾病 Specific pediatric chronic disease コラーゲン受容体異常症 Abnormalities in platelet collagen receptors MONDO:0013623 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_2201168 NANDO:2201168 小児慢性特定疾病 Specific pediatric chronic disease Hurler病 Hurler Disease MONDO:0011758 closeMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_2201168 NANDO:2201168 小児慢性特定疾病 Specific pediatric chronic disease Hurler病 Hurler Disease MONDO:0001586 closeMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_2201169 NANDO:2201169 小児慢性特定疾病 Specific pediatric chronic disease Scheie病 Scheie disease MONDO:0011760 exactMatch http://glycosmos.org/glycogene/3425 3425 IDUA L-iduronidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0003940 | http://purl.obolibrary.org/obo/GO_0005102 24036510 | http://nanbyodata.jp/ontology/NANDO_2201170 NANDO:2201170 小児慢性特定疾病 Specific pediatric chronic disease Hurler-Scheie病 Hurler-Scheie disease MONDO:0011759 exactMatch http://glycosmos.org/glycogene/3426 3426 CFI metal ion binding | serine-type peptidase activity | protein binding | serine-type endopeptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008236 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | | 16237761 | http://nanbyodata.jp/ontology/NANDO_2200790 NANDO:2200790 小児慢性特定疾病 Specific pediatric chronic disease Factor I 欠損症 Factor In deficiency MONDO:0012594 exactMatch http://glycosmos.org/glycogene/3587 3587 IL10RA protein binding | signaling receptor activity | interleukin-10 binding | interleukin-10 receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019969 | http://purl.obolibrary.org/obo/GO_0004920 11485736,12093920,12513909,15837194,16982608,18395809,20462497,22087322,24008843,32296183 | 8407942 | | 16982608,24367025 http://nanbyodata.jp/ontology/NANDO_2200447 NANDO:2200447 小児慢性特定疾病 Specific pediatric chronic disease IL-10RA欠損症 IL-10RA deficiency MONDO:0013153 exactMatch http://glycosmos.org/glycogene/3588 3588 IL10RB signaling receptor activity | coreceptor activity | interleukin-10 receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0004920 | http://purl.obolibrary.org/obo/GO_0005515 8314576 | 16982608 | 10954742 | 12483210,12513909,15120653,16982608,20462497 http://nanbyodata.jp/ontology/NANDO_2200448 NANDO:2200448 小児慢性特定疾病 Specific pediatric chronic disease IL-10RB欠損症 IL-10RB deficiency MONDO:0012941 exactMatch http://glycosmos.org/glycogene/551 551 AVP protein kinase activity | cysteine-type endopeptidase inhibitor activity involved in apoptotic process | protein binding | neuropeptide hormone activity | signaling receptor binding | V1A vasopressin receptor binding | V1B vasopressin receptor binding | neurohypophyseal hormone activity http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0043027 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005184 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0031894 | http://purl.obolibrary.org/obo/GO_0031895 | http://purl.obolibrary.org/obo/GO_0005185 18402937 | | 32296183,33713620 | 18402937 | 1740104,8794883 | 18402937 | | http://nanbyodata.jp/ontology/NANDO_2201050 NANDO:2201050 小児慢性特定疾病 Specific pediatric chronic disease 家族性中枢性尿崩症 Familial central diabetes insipidus MONDO:0007450 exactMatch http://glycosmos.org/glycogene/51816 51816 ADA2 zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0042803 20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294 http://nanbyodata.jp/ontology/NANDO_2200441 NANDO:2200441 小児慢性特定疾病 Specific pediatric chronic disease ADA2欠損症 Adenosine deaminase 2 deficiency MONDO:0014306 exactMatch http://glycosmos.org/glycogene/51816 51816 ADA2 zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0042803 20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294 http://nanbyodata.jp/ontology/NANDO_2200450 NANDO:2200450 小児慢性特定疾病 Specific pediatric chronic disease DADA2 Deficiency of the enzyme ADA2 MONDO:0014306 closeMatch http://glycosmos.org/glycogene/3559 3559 IL2RA protein binding | interleukin-2 receptor activity | interleukin-2 binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0019976 16477002,17032757 | 16293754,2467293 | http://nanbyodata.jp/ontology/NANDO_2201056 NANDO:2201056 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（少関節炎） Oligoarticular juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/3560 3560 IL2RB interleukin-15 receptor activity | coreceptor activity | protein binding | interleukin-2 receptor activity | cytokine receptor activity | interleukin-2 binding http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004911 | http://purl.obolibrary.org/obo/GO_0004896 | http://purl.obolibrary.org/obo/GO_0019976 15123770 | 7973659,8026467 | 16477002,22446627,23104097,25416956,32296183 | 2467293,31040184,31040185,7736574 | | 2467293,31040184,31040185 http://nanbyodata.jp/ontology/NANDO_2201056 NANDO:2201056 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（少関節炎） Oligoarticular juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/3569 3569 IL6 identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005138 8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960 http://nanbyodata.jp/ontology/NANDO_2201055 NANDO:2201055 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（全身型） Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/10577 10577 NPC2 protein binding | cholesterol binding | cholesterol transfer activity | enzyme binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0019899 19664597,20674861,22095670,27238017,27940359 | 17018531,18772377,27238017 | 18772377,25339683,27238017 | 15110773 http://nanbyodata.jp/ontology/NANDO_2201209 NANDO:2201209 小児慢性特定疾病 Specific pediatric chronic disease 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C MONDO:0016310 exactMatch http://glycosmos.org/glycogene/87 87 ACTN1 double-stranded RNA binding | integrin binding | transmembrane transporter binding | transcription coactivator activity | actin filament binding | calcium ion binding | nuclear receptor coactivator activity | structural constituent of postsynapse | protein homodimerization activity | vinculin binding | protein binding http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0030374 | http://purl.obolibrary.org/obo/GO_0099186 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0017166 | http://purl.obolibrary.org/obo/GO_0005515 21266579 | 11223950,7983147 | 17944866,19943616 | 22351778 | 11223950 | | | 29429936 | 11223950 | 11223950,15988023 | 10753915,10793131,11101506,11110697,12446711,14623081,16189514,16291744,16464232,18560563,20120020,21653829,25416956,25910212,26496610,26871637,30021884,31515488,32296183,35271311 http://nanbyodata.jp/ontology/NANDO_2200665 NANDO:2200665 小児慢性特定疾病 Specific pediatric chronic disease αアクチニン1異常症 ACTN1 mutations MONDO:0014078 exactMatch http://glycosmos.org/glycogene/94 94 ACVRL1 ATP binding | transforming growth factor beta binding | transmembrane receptor protein serine/threonine kinase activity | activin binding | activin receptor activity, type II | transforming growth factor beta receptor activity, type I | activin receptor activity, type I | SMAD binding | transforming growth factor beta receptor activity, type II | protein binding | metal ion binding | transforming growth factor beta receptor activity, type III | protein serine/threonine kinase activity | protein kinase binding | transforming growth factor beta receptor activity | BMP receptor activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0048185 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0098821 12065756 | 8242742 | 8242742 | 8242742 | | 8242742 | 22718755,8242742 | 12065756 | | 11266516,11278302,12393874,14580334,15611116,15702480,16049014,17068149,18974388,21791611,23868260,28514442,28564608,33961781,8242742 | | | 12065756,12393874 | 19592636 | 8242742 | 12065756,26176610,32082362 http://nanbyodata.jp/ontology/NANDO_2201047 NANDO:2201047 小児慢性特定疾病 Specific pediatric chronic disease 家族性肺動脈性肺高血圧症 Familial pulmonary arterial hypertension MONDO:0017148 exactMatch http://glycosmos.org/glycogene/161582 161582 DNAAF4 protein binding | nuclear estrogen receptor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331 19423554,20562859,23872636,25416956,26871637,28041644,29601588,32296183 | 19423554 http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/10584 10584 COLEC10 mannose binding | protein binding | chemoattractant activity http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042056 | 24174618 | 28301481 http://nanbyodata.jp/ontology/NANDO_2200792 NANDO:2200792 小児慢性特定疾病 Specific pediatric chronic disease 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 exactMatch http://glycosmos.org/glycogene/1376 1376 CPT2 carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004095 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0008458 | http://purl.obolibrary.org/obo/GO_0005515 1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201133 NANDO:2201133 小児慢性特定疾病 Specific pediatric chronic disease 乳児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症 Infantile-onset carnitine palmitoyl transferase II deficiency MONDO:0015515 closeMatch http://glycosmos.org/glycogene/1376 1376 CPT2 carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding http://purl.obolibrary.org/obo/GO_0004095 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0008458 | http://purl.obolibrary.org/obo/GO_0005515 1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201134 NANDO:2201134 小児慢性特定疾病 Specific pediatric chronic disease 遅発型カルニチンパルミトイルトランスフェラーゼII欠損症 Late-onset carnitine palmitoyltransferase II deficiency MONDO:0015515 closeMatch http://glycosmos.org/glycogene/1380 1380 CR2 complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding http://purl.obolibrary.org/obo/GO_0004875 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0034987 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001848 2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390 http://nanbyodata.jp/ontology/NANDO_2200801 NANDO:2200801 小児慢性特定疾病 Specific pediatric chronic disease CR2欠損症 CD21 deficiency MONDO:0013862 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_2201078 NANDO:2201078 小児慢性特定疾病 Specific pediatric chronic disease 古典型メープルシロップ尿症 Classic form maple syrup urine disease MONDO:0017051 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_2201079 NANDO:2201079 小児慢性特定疾病 Specific pediatric chronic disease 中間型メープルシロップ尿症 Intermediate maple syrup urine disease MONDO:0017052 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_2201080 NANDO:2201080 小児慢性特定疾病 Specific pediatric chronic disease 間欠型メープルシロップ尿症 Intermittent maple syrup urine disease MONDO:0017053 exactMatch http://glycosmos.org/glycogene/1629 1629 DBT protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase (acylating) activity | ubiquitin protein ligase binding | acyltransferase activity, transferring groups other than amino-acyl groups | acetyltransferase activity | dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031405 | http://purl.obolibrary.org/obo/GO_0047101 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0016747 | http://purl.obolibrary.org/obo/GO_0016407 | http://purl.obolibrary.org/obo/GO_0043754 22291014,28514442,33961781 | | 3593587 | 19725078 | | | http://nanbyodata.jp/ontology/NANDO_2201081 NANDO:2201081 小児慢性特定疾病 Specific pediatric chronic disease チアミン反応型メープルシロップ尿症 Thiamine-responsive maple syrup urine disease MONDO:0017054 exactMatch http://glycosmos.org/glycogene/1767 1767 DNAH5 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0051959 | | | | http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/1770 1770 DNAH9 dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | | | | | 30471718 http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/1954 1954 MEGF8 calcium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | 21078624 http://nanbyodata.jp/ontology/NANDO_2200847 NANDO:2200847 小児慢性特定疾病 Specific pediatric chronic disease Carpenter症候群 Carpenter syndrome MONDO:0019012 exactMatch http://glycosmos.org/glycogene/200373 200373 CFAP221 calmodulin binding http://purl.obolibrary.org/obo/GO_0005516 "" http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/3673 3673 ITGA2 heparan sulfate proteoglycan binding | integrin binding | metal ion binding | laminin binding | collagen binding | protein binding | collagen receptor activity | protein-containing complex binding | amyloid-beta binding | virus receptor activity | collagen binding involved in cell-matrix adhesion http://purl.obolibrary.org/obo/GO_0043395 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038064 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0098639 21126803 | | | | 11518510 | 10397731,14681217,16754661,16754960,18587047,21596751,21947080,26779610,7639691 | 11518510 | 25336636 | | | 24823363 http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/3674 3674 ITGA2B metal ion binding | identical protein binding | integrin binding | molecular adaptor activity | extracellular matrix binding | fibrinogen binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0070051 | http://purl.obolibrary.org/obo/GO_0005515 | 11606749,14681217,15067009 | | 11412103 | | | 14681217,15378069,19279667,19805198,22178926,22779914,25849143,30305279,37184585 http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/3690 3690 ITGB3 identical protein binding | fibrinogen binding | virus receptor activity | protein disulfide isomerase activity | extracellular matrix binding | enzyme binding | coreceptor activity | protease binding | fibronectin binding | neuregulin binding | fibroblast growth factor binding | vascular endothelial growth factor receptor 2 binding | protein binding | C-X3-C chemokine binding | cell adhesion molecule binding | insulin-like growth factor I binding | integrin binding | protein kinase C binding | metal ion binding | platelet-derived growth factor receptor binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070051 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0003756 | http://purl.obolibrary.org/obo/GO_0050840 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0001968 | http://purl.obolibrary.org/obo/GO_0038132 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0043184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019960 | http://purl.obolibrary.org/obo/GO_0050839 | http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005080 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005161 11606749,14681217,22178926 | | | 12204115,15466936 | 22505472 | 21670307 | 23125415 | 22505472 | 24658351 | 20682778 | 18441324 | 10022831,19267251 | 10822899,11470407,11546839,11884718,11940607,12535520,12682293,12695522,12807887,14593208,14681217,15062093,15299032,15344881,15378069,15466936,16051604,16099422,16115959,16275649,16546176,1694173,17218263,17485491,18045938,18317590,19141530,19279667,19461049,19805198,20639902,21134644,2116421,22178926,22210111,23125415,24658351,2478219,24789099,25849143,30305279,31331973,33436498,35044719,37184585,38016540 | 23125415 | 8837777 | 19578119 | 20826760 | | | 19267251 http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/3777 3777 KCNK3 S100 protein binding | metal ion binding | protein heterodimerization activity | ion channel activity | potassium channel activity | monoatomic ion channel activity | outward rectifier potassium channel activity | protein binding | potassium ion leak channel activity | open rectifier potassium channel activity | sodium channel activity http://purl.obolibrary.org/obo/GO_0044548 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005216 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0005216 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0022841 | http://purl.obolibrary.org/obo/GO_0005252 | http://purl.obolibrary.org/obo/GO_0005272 12198146 | | 23169818 | 12198146 | 9312005 | 12198146 | 26919430 | 23169818 | 9312005 | | 22948150 http://nanbyodata.jp/ontology/NANDO_2201047 NANDO:2201047 小児慢性特定疾病 Specific pediatric chronic disease 家族性肺動脈性肺高血圧症 Familial pulmonary arterial hypertension MONDO:0017148 exactMatch http://glycosmos.org/glycogene/3783 3783 KCNN4 small conductance calcium-activated potassium channel activity | calcium-activated potassium channel activity | protein binding | Intermediate conductance calcium-activated potassium channel activity | potassium channel activity | protein homodimerization activity | calmodulin binding | protein phosphatase binding http://purl.obolibrary.org/obo/GO_0016286 | http://purl.obolibrary.org/obo/GO_0015269 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0022894 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0019903 | 18796614,26148990 | 12198491,18796614,27092946,32296183 | 10026195,10961988,11425865,15831468,17157250,18796614,26148990,26418693,9326665,9380751,9407042 | | 29953543 | 29724949 | 18796614 http://nanbyodata.jp/ontology/NANDO_2200633 NANDO:2200633 小児慢性特定疾病 Specific pediatric chronic disease Stomatocytic Xerocytosis Stomatocytic xerocytosis MONDO:0017910 exactMatch http://glycosmos.org/glycogene/3848 3848 KRT1 protein binding | protein heterodimerization activity | structural constituent of skin epidermis | carbohydrate binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0038023 11290596,16923132,20562859,24940650,25910212,27595935,32296183,39009827 | 27595935 | 7543090 | 11549596 | 11290596 http://nanbyodata.jp/ontology/NANDO_2200988 NANDO:2200988 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 exactMatch http://glycosmos.org/glycogene/3858 3858 KRT10 protein heterodimerization activity | structural constituent of skin epidermis | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515 27595935 | 2459124,7543090 | 19627498,24940650,27595935 http://nanbyodata.jp/ontology/NANDO_2200988 NANDO:2200988 小児慢性特定疾病 Specific pediatric chronic disease 常染色体優性表皮融解性魚鱗癬 Autosomal dominant epidermolytic ichthyosis MONDO:0020702 exactMatch http://glycosmos.org/glycogene/3858 3858 KRT10 protein heterodimerization activity | structural constituent of skin epidermis | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515 27595935 | 2459124,7543090 | 19627498,24940650,27595935 http://nanbyodata.jp/ontology/NANDO_2200989 NANDO:2200989 小児慢性特定疾病 Specific pediatric chronic disease 常染色体劣性表皮融解性魚鱗癬 Autosomal recessive epidermolytic ichthyosis MONDO:0044742 exactMatch http://glycosmos.org/glycogene/3998 3998 LMAN1 protein binding | metal ion binding | mannose binding | unfolded protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0051082 16304051,17805346,17971482,18287528,19787799,20138881,20142513,22337587,24806965,31142615,33961781,34779586,35271311,9774442 | 24498414 | | 9546392 http://nanbyodata.jp/ontology/NANDO_2200686 NANDO:2200686 小児慢性特定疾病 Specific pediatric chronic disease 先天性第VおよびVIII因子合併欠乏症 Combined deficiency of coagulation factors V and VIII MONDO:0018175 exactMatch http://glycosmos.org/glycogene/6710 6710 SPTB structural constituent of cytoskeleton | actin binding | ankyrin binding | protein binding | actin filament binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051015 | 2195026 | 8159688 | 10751147,12820899,16060676,20197550,23414517,32814053,33961781 | 16060676 http://nanbyodata.jp/ontology/NANDO_2200630 NANDO:2200630 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性楕円赤血球症 Hereditary elliptocytosis MONDO:0017319 exactMatch http://glycosmos.org/glycogene/6773 6773 STAT2 identical protein binding | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ubiquitin-like protein ligase binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0044389 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 8605877 | 31127039,9020188 | | 27782195 | 9020188 | 12220192,15825084,16227264,17923090,18579593,20404187,21903422,24065129,26966684,28165510,28514442,31836668,32092142,32953130,33961781,34471099,35140242,8605876,8605877,9121453,9677371 http://nanbyodata.jp/ontology/NANDO_2200770 NANDO:2200770 小児慢性特定疾病 Specific pediatric chronic disease STAT2欠損症 STAT2 deficiency MONDO:0014715 exactMatch http://glycosmos.org/glycogene/6775 6775 STAT4 protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription factor activity | identical protein binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042802 22740693,32814053 | | | 31562212,37256972 | 18591661 http://nanbyodata.jp/ontology/NANDO_2201056 NANDO:2201056 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（少関節炎） Oligoarticular juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/6777 6777 STAT5B protein homodimerization activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein binding | protein dimerization activity | identical protein binding | DNA-binding transcription factor activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | nuclear glucocorticoid receptor binding | chromatin binding http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0003682 29844444 | | 21106534,31175292,32296183,33961781,9989503 | | 31175292 | 8631883 | | 29844444 | 12552091 | http://nanbyodata.jp/ontology/NANDO_2200737 NANDO:2200737 小児慢性特定疾病 Specific pediatric chronic disease STAT5b欠損症 STAT5b deficiency MONDO:0100211 exactMatch http://glycosmos.org/glycogene/115399 115399 LRRC56 protein binding http://purl.obolibrary.org/obo/GO_0005515 30388400,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/25981 25981 DNAH1 ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003777 | http://purl.obolibrary.org/obo/GO_0008569 | http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0051959 | 9373155 | | | http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/2022 2022 ENG transmembrane signaling receptor activity | coreceptor activity | BMP binding | protein binding | signaling receptor activator activity | transforming growth factor beta binding | transforming growth factor beta receptor activity | type II transforming growth factor beta receptor binding | galactose binding | protein homodimerization activity | type I transforming growth factor beta receptor binding | glycosaminoglycan binding | identical protein binding | activin binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030546 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048185 18974388 | 12015308,18223685 | 9872992 | 15702480,20856203,22940691,23868260,28564608,31540324,9872992 | 12015308 | 1326540,8370410,9872992 | | 12015308,8294451 | 3262645 | 8370410 | 12015308,18974388,8294451 | 3262645,8294451 | 28564608 | 11382917 http://nanbyodata.jp/ontology/NANDO_2201047 NANDO:2201047 小児慢性特定疾病 Specific pediatric chronic disease 家族性肺動脈性肺高血圧症 Familial pulmonary arterial hypertension MONDO:0017148 exactMatch http://glycosmos.org/glycogene/2035 2035 EPB41 actin binding | spectrin binding | structural constituent of cytoskeleton | calmodulin binding | 1-phosphatidylinositol binding | protein binding | phosphoprotein binding http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0030507 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005545 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051219 | 3693401 | 6894932 | | 16669616 | 10692436,11003675,16060676,16254212,16669616,20109190,23870127,24996901,25416956,32814053,8922391 | 20109190 http://nanbyodata.jp/ontology/NANDO_2200630 NANDO:2200630 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性楕円赤血球症 Hereditary elliptocytosis MONDO:0017319 exactMatch http://glycosmos.org/glycogene/2273 2273 FHL1 zinc ion binding | protein binding | transmembrane transporter binding | metal ion binding http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0046872 | 18482256,19401155,20969868,21900206,23414517,28671123,35271311 | 18281375 | http://nanbyodata.jp/ontology/NANDO_2200875 NANDO:2200875 小児慢性特定疾病 Specific pediatric chronic disease 還元小体ミオパチー Reducing body myopathy MONDO:0019948 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2201159 NANDO:2201159 小児慢性特定疾病 Specific pediatric chronic disease 肝型糖原病IV型 Glycogen storage disease type IV, hepatic form MONDO:0017695 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2201160 NANDO:2201160 小児慢性特定疾病 Specific pediatric chronic disease 非進行性肝型糖原病IV型 Glycogen storage disease type IV, non-progressive hepatic form MONDO:0017696 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2201161 NANDO:2201161 小児慢性特定疾病 Specific pediatric chronic disease 致死性神経・筋型糖原病IV型 Glycogen storage disease type IV, fatal neuromuscular form MONDO:0017697 exactMatch http://glycosmos.org/glycogene/2632 2632 GBE1 1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding http://purl.obolibrary.org/obo/GO_0003844 | http://purl.obolibrary.org/obo/GO_0004553 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0043169 | http://purl.obolibrary.org/obo/GO_0005515 26199317,8613547 | | | | 24837458,36217029 http://nanbyodata.jp/ontology/NANDO_2201162 NANDO:2201162 小児慢性特定疾病 Specific pediatric chronic disease 幼児筋・肝型糖原病IV型 Glycogen storage disease type IV, childhood combined hepatic and myopathic form MONDO:0017699 exactMatch http://glycosmos.org/glycogene/2811 2811 GP1BA protein binding | thrombin-activated receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015057 12183630,12855810,15039442,18674540,18789323,19828450,25666618,7721887 | 12855810 http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/2812 2812 GP1BB identical protein binding | transmembrane signaling receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515 18674540 | 3353370 | 11943773,18674540,18789323,4044584 http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/2995 2995 GYPC protein binding http://purl.obolibrary.org/obo/GO_0005515 16669616,32296183 http://nanbyodata.jp/ontology/NANDO_2200630 NANDO:2200630 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性楕円赤血球症 Hereditary elliptocytosis MONDO:0017319 exactMatch http://glycosmos.org/glycogene/4125 4125 MAN2B1 carbohydrate binding | alpha-mannosidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872 | | http://nanbyodata.jp/ontology/NANDO_2201188 NANDO:2201188 小児慢性特定疾病 Specific pediatric chronic disease 乳児型α - マンノシドーシス Alpha-mannosidosis, infantile form MONDO:0017732 exactMatch http://glycosmos.org/glycogene/4125 4125 MAN2B1 carbohydrate binding | alpha-mannosidase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872 | | http://nanbyodata.jp/ontology/NANDO_2201189 NANDO:2201189 小児慢性特定疾病 Specific pediatric chronic disease 若年成人型α - マンノシドーシス Alpha-mannosidosis, adult form MONDO:0017733 exactMatch http://glycosmos.org/glycogene/4282 4282 MIF identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005126 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0050178 | http://purl.obolibrary.org/obo/GO_0004167 20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494 http://nanbyodata.jp/ontology/NANDO_2201055 NANDO:2201055 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（全身型） Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/4758 4758 NEU1 protein binding | alpha-sialidase activity | exo-alpha-(2->8)-sialidase activity | exo-alpha-sialidase activity | exo-alpha-(2->3)-sialidase activity | exo-alpha-(2->6)-sialidase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016997 | http://purl.obolibrary.org/obo/GO_0052796 | http://purl.obolibrary.org/obo/GO_0004308 | http://purl.obolibrary.org/obo/GO_0052794 | http://purl.obolibrary.org/obo/GO_0052795 25910212,32296183 | 25153125 | | 8985184 | | http://nanbyodata.jp/ontology/NANDO_2201191 NANDO:2201191 小児慢性特定疾病 Specific pediatric chronic disease シアリドーシスI型 Sialidosis type 1 MONDO:0019346 exactMatch http://glycosmos.org/glycogene/4864 4864 NPC1 protein binding | cholesterol transfer activity | transmembrane signaling receptor activity | virus receptor activity | lipid transporter activity | cholesterol binding | signaling receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0001618 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0038023 16757520,19583955,20674861,25285302,26771495,27238017,28336668,34450201,34799735 | 9927649 | 10521290 | | | 18772377 | 9211849 http://nanbyodata.jp/ontology/NANDO_2201209 NANDO:2201209 小児慢性特定疾病 Specific pediatric chronic disease 成人型ニーマン・ピック病C型 Adult-onset Niemann-Pick disease type C MONDO:0016310 exactMatch http://glycosmos.org/glycogene/135228 135228 CD109 serine-type endopeptidase inhibitor activity http://purl.obolibrary.org/obo/GO_0004867 "" http://nanbyodata.jp/ontology/NANDO_2200647 NANDO:2200647 小児慢性特定疾病 Specific pediatric chronic disease 新生児同種免疫性血小板減少症 Neonatal alloimmune thrombocytopenia MONDO:0019415 exactMatch http://glycosmos.org/glycogene/103 103 ADAR metal ion binding | double-stranded RNA adenosine deaminase activity | DNA binding | double-stranded RNA binding | protein binding | adenosine deaminase activity | tRNA-specific adenosine deaminase activity | RNA binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0003726 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008251 | http://purl.obolibrary.org/obo/GO_0003723 | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889 http://nanbyodata.jp/ontology/NANDO_2200898 NANDO:2200898 小児慢性特定疾病 Specific pediatric chronic disease ADAR1欠損症 Aicardi-Goutieres syndrome 6 MONDO:0014007 exactMatch http://glycosmos.org/glycogene/339829 339829 CCDC39 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/9780 9780 PIEZO1 protein binding | mechanosensitive monoatomic ion channel activity | mechanosensitive monoatomic cation channel activity | monoatomic cation channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008381 | http://purl.obolibrary.org/obo/GO_0140135 | http://purl.obolibrary.org/obo/GO_0005261 24798994,28514442,33961781 | | 25955826 | http://nanbyodata.jp/ontology/NANDO_2200633 NANDO:2200633 小児慢性特定疾病 Specific pediatric chronic disease Stomatocytic Xerocytosis Stomatocytic xerocytosis MONDO:0017910 exactMatch http://glycosmos.org/glycogene/352909 352909 DNAAF3 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/629 629 CFB serine-type endopeptidase activity | complement binding | protein binding http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0001848 | http://purl.obolibrary.org/obo/GO_0005515 | 11367526 | 19255449,22518841,28533443 http://nanbyodata.jp/ontology/NANDO_2200797 NANDO:2200797 小児慢性特定疾病 Specific pediatric chronic disease B因子欠損症 Factor B deficiency MONDO:0014255 exactMatch http://glycosmos.org/glycogene/861 861 RUNX1 RNA polymerase II transcription regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | ATP binding | calcium ion binding | transcription corepressor binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein binding | DNA-binding transcription factor binding | transcription cis-regulatory region binding | DNA binding | protein homodimerization activity | protein heterodimerization activity | DNA-binding transcription factor activity | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coactivator binding http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0001223 9199349 | 9199349 | | 12217689 | 9751710 | | 10207087,10856244,11965546,12217689,14970218,16917507,17377532,17431401,18280240,19497860,21179004,21873977,22253733,25241761,25283809,25678665,2845103,28533407,29391048,32296183,33961781,34591612,35914814,9751710 | 9199349 | 21873977 | 12217689,8413232,9199349 | 10856244 | 8413232 | 14970218,9199349 | 17377532 | 11742995 http://nanbyodata.jp/ontology/NANDO_2200662 NANDO:2200662 小児慢性特定疾病 Specific pediatric chronic disease 骨髄悪性腫瘍傾向を伴う家族性血小板減少症 Familial platelet disorder with propensity to myeloid. MONDO:0100083 exactMatch http://glycosmos.org/glycogene/659 659 BMPR2 activin receptor activity, type I | transforming growth factor beta receptor activity, type II | transforming growth factor beta receptor activity | BMP binding | protein tyrosine kinase binding | cadherin binding | ATP binding | transforming growth factor beta receptor activity, type I | protein binding | BMP receptor activity | growth factor binding | activin receptor activity, type II | metal ion binding | transforming growth factor beta receptor activity, type III http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0019838 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0070123 | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | http://nanbyodata.jp/ontology/NANDO_2201047 NANDO:2201047 小児慢性特定疾病 Specific pediatric chronic disease 家族性肺動脈性肺高血圧症 Familial pulmonary arterial hypertension MONDO:0017148 exactMatch http://glycosmos.org/glycogene/51360 51360 MBTPS2 transcription regulator activator activity | metal ion binding | metalloendopeptidase activity http://purl.obolibrary.org/obo/GO_0140537 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004222 11163209 | | 11163209 http://nanbyodata.jp/ontology/NANDO_2200999 NANDO:2200999 小児慢性特定疾病 Specific pediatric chronic disease IFAP症候群 Ichthyosis-follicularis-atrichia-photophobia syndrome MONDO:0100213 exactMatch http://glycosmos.org/glycogene/90411 90411 MCFD2 calcium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | 12717434,16304051,17971482,19787799,20138881,20142513,32296183,32814053,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2200686 NANDO:2200686 小児慢性特定疾病 Specific pediatric chronic disease 先天性第VおよびVIII因子合併欠乏症 Combined deficiency of coagulation factors V and VIII MONDO:0018175 exactMatch http://glycosmos.org/glycogene/3043 3043 HBB haptoglobin binding | metal ion binding | heme binding | hemoglobin binding | organic acid binding | peroxidase activity | protein binding | oxygen carrier activity | oxygen binding | hemoglobin alpha binding http://purl.obolibrary.org/obo/GO_0031720 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031721 19740759 | | | 1512262 | | 19740759 | 10390349,10930828,11159543,11724557,1552945,15835899,16169070,25502805,28514442,28665412,29997244,30833564,31515488,32296183,33961781,37398436,6683087,9441940,9830011,9894000 | 11747442,1301199 | 11747442,28066926 | http://nanbyodata.jp/ontology/NANDO_2200635 NANDO:2200635 小児慢性特定疾病 Specific pediatric chronic disease ヘモグロビンC症 Hemoglobin C disease MONDO:0016242 exactMatch http://glycosmos.org/glycogene/3123 3123 HLA-DRB1 structural constituent of cytoskeleton | MHC class II receptor activity | protein binding | CD4 receptor binding | peptide antigen binding | polysaccharide binding | MHC class II protein complex binding | T cell receptor binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0032395 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042609 | http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030247 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0042608 1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618 http://nanbyodata.jp/ontology/NANDO_2201055 NANDO:2201055 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（全身型） Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/5648 5648 MASP1 serine-type endopeptidase activity | peptidase activity | calcium ion binding | calcium-dependent protein binding | protein binding | identical protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0048306 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 11527969 | 10946292,12538697 | 18596036 | 12421953,18596036 | 10946292,11290788,11485744,11907111,18177377,19939495,20956340,21035894,22607836,22854970,23785123,23861840,24174618,25579818,27104295,32041782 | 22854970,23785123 | 18596036 http://nanbyodata.jp/ontology/NANDO_2200792 NANDO:2200792 小児慢性特定疾病 Specific pediatric chronic disease 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_2201202 NANDO:2201202 小児慢性特定疾病 Specific pediatric chronic disease 後期乳児型異染性白質ジストロフィー Metachromatic leukodystrophy, late infantile form MONDO:0017729 exactMatch http://glycosmos.org/glycogene/410 410 ARSA protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0008484 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004098 21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | http://nanbyodata.jp/ontology/NANDO_2201204 NANDO:2201204 小児慢性特定疾病 Specific pediatric chronic disease 成人型異染性白質ジストロフィー Metachromatic leukodystrophy, adult form MONDO:0017730 exactMatch http://glycosmos.org/glycogene/445 445 ASS1 protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015643 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0004055 12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870 http://nanbyodata.jp/ontology/NANDO_2201094 NANDO:2201094 小児慢性特定疾病 Specific pediatric chronic disease 新生児期発症型アルギニノコハク酸合成酵素欠損症 Neonatal-onset argininosuccinate synthetase deficiency MONDO:0016600 exactMatch http://glycosmos.org/glycogene/445 445 ASS1 protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015643 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0016597 | http://purl.obolibrary.org/obo/GO_0004055 12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870 http://nanbyodata.jp/ontology/NANDO_2201095 NANDO:2201095 小児慢性特定疾病 Specific pediatric chronic disease 遅発型アルギニノコハク酸合成酵素欠損症 Late-onset argininosuccinate synthetase deficiency MONDO:0016601 exactMatch http://glycosmos.org/glycogene/5336 5336 PLCG2 phosphatidylinositol phospholipase C activity | scaffold protein binding | phosphotyrosine residue binding | phospholipase C activity | protein binding | phosphorylation-dependent protein binding | protein tyrosine kinase binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0019901 11606584,12181444,32514138 | 11606584,23555801 | 20624904 | | 15644415,16273093,24642916,24658140,24728074,25241761,25814554,31980649,33961781 | | 32514138 | 11606584,14656219 http://nanbyodata.jp/ontology/NANDO_2200442 NANDO:2200442 小児慢性特定疾病 Specific pediatric chronic disease 自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013944 exactMatch http://glycosmos.org/glycogene/5336 5336 PLCG2 phosphatidylinositol phospholipase C activity | scaffold protein binding | phosphotyrosine residue binding | phospholipase C activity | protein binding | phosphorylation-dependent protein binding | protein tyrosine kinase binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0019901 11606584,12181444,32514138 | 11606584,23555801 | 20624904 | | 15644415,16273093,24642916,24658140,24728074,25241761,25814554,31980649,33961781 | | 32514138 | 11606584,14656219 http://nanbyodata.jp/ontology/NANDO_2200451 NANDO:2200451 小児慢性特定疾病 Specific pediatric chronic disease PLCG2異常症 PLCg2 deficiency MONDO:0013944 closeMatch http://glycosmos.org/glycogene/5336 5336 PLCG2 phosphatidylinositol phospholipase C activity | scaffold protein binding | phosphotyrosine residue binding | phospholipase C activity | protein binding | phosphorylation-dependent protein binding | protein tyrosine kinase binding | protein kinase binding http://purl.obolibrary.org/obo/GO_0004435 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0004629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_1990782 | http://purl.obolibrary.org/obo/GO_0019901 11606584,12181444,32514138 | 11606584,23555801 | 20624904 | | 15644415,16273093,24642916,24658140,24728074,25241761,25814554,31980649,33961781 | | 32514138 | 11606584,14656219 http://nanbyodata.jp/ontology/NANDO_2200455 NANDO:2200455 小児慢性特定疾病 Specific pediatric chronic disease フォスフォリパーゼCγ2関連抗体欠損免疫異常症 PLCG2-associated antibody deficiency and immune dysregulation MONDO:0013766 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_2201202 NANDO:2201202 小児慢性特定疾病 Specific pediatric chronic disease 後期乳児型異染性白質ジストロフィー Metachromatic leukodystrophy, late infantile form MONDO:0017729 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_2201204 NANDO:2201204 小児慢性特定疾病 Specific pediatric chronic disease 成人型異染性白質ジストロフィー Metachromatic leukodystrophy, adult form MONDO:0017730 exactMatch http://glycosmos.org/glycogene/5771 5771 PTPN2 protein binding | protein tyrosine phosphatase activity, metal-dependent | receptor tyrosine kinase binding | histone H2AXY142 phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | protein kinase binding | STAT family protein binding | syntaxin binding | protein tyrosine phosphatase activity | integrin binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0019905 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0005178 12359225,12907755,15696169,16595549,19273555,22080863,28514442,33961781,35013194 | | 18819921 | | | 11909529,15696169 | | 23006999 | 11909529,12138178,12612081,14966296,17210636,23006999 | 15592458 http://nanbyodata.jp/ontology/NANDO_2201056 NANDO:2201056 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（少関節炎） Oligoarticular juvenile idiopathic arthritis MONDO:0019433 exactMatch http://glycosmos.org/glycogene/6521 6521 SLC4A1 chloride transmembrane transporter activity | ankyrin binding | protein-membrane adaptor activity | monoatomic anion transmembrane transporter activity | hemoglobin binding | bicarbonate transmembrane transporter activity | solute:inorganic anion antiporter activity | protein binding | protein homodimerization activity | chloride:bicarbonate antiporter activity http://purl.obolibrary.org/obo/GO_0015108 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0043495 | http://purl.obolibrary.org/obo/GO_0008509 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005452 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0140900 | 379653 | 10950304 | 4027230 | | 24121512 | 14734552,24121512 | 16669616,19438409,20980406,2204832,23219802,25012180,26049106,26823170,28387307,32296183 | 379653 | 28387307 http://nanbyodata.jp/ontology/NANDO_2200633 NANDO:2200633 小児慢性特定疾病 Specific pediatric chronic disease Stomatocytic Xerocytosis Stomatocytic xerocytosis MONDO:0017910 exactMatch http://glycosmos.org/glycogene/6674 6674 SPAG1 GTP binding | hydrolase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787 | http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/6708 6708 SPTA1 calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0051015 | 12820899,20197550,32296183,33961781,9593709 | 1634521 | http://nanbyodata.jp/ontology/NANDO_2200630 NANDO:2200630 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性楕円赤血球症 Hereditary elliptocytosis MONDO:0017319 exactMatch http://glycosmos.org/glycogene/78989 78989 COLEC11 identical protein binding | DNA binding | oligosaccharide binding | calcium-dependent carbohydrate binding | fucose binding | mannose binding | calcium ion binding | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070492 | http://purl.obolibrary.org/obo/GO_0120153 | http://purl.obolibrary.org/obo/GO_0042806 | http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515 20956340,24174618 | 20956340,23954398 | 25912189 | 25912189 | 20956340 | 20956340,25912189 | 25912189 | 20956340,24174618,32041782,32045104 http://nanbyodata.jp/ontology/NANDO_2200792 NANDO:2200792 小児慢性特定疾病 Specific pediatric chronic disease 3MC 症候群 Malpuech-Michels-Mingarelli-Carnevale syndrome MONDO:0017398 exactMatch http://glycosmos.org/glycogene/54768 54768 HYDIN protein binding http://purl.obolibrary.org/obo/GO_0005515 32296183 http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/8701 8701 DNAH11 dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | dynein light intermediate chain binding | minus-end-directed microtubule motor activity http://purl.obolibrary.org/obo/GO_0045505 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0051959 | http://purl.obolibrary.org/obo/GO_0008569 | | | | http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/92749 92749 DRC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 34169321 http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/79925 79925 SPEF2 "" "" "" http://nanbyodata.jp/ontology/NANDO_2200204 NANDO:2200204 小児慢性特定疾病 Specific pediatric chronic disease カルタゲナー症候群 Kartagener syndrome MONDO:0016575 closeMatch http://glycosmos.org/glycogene/144811 144811 LACC1 adenosine deaminase activity | S-methyl-5-thioadenosine phosphorylase activity | copper ion binding | 2'-deoxyadenosine deaminase activity | purine-nucleoside phosphorylase activity | guanosine phosphorylase activity | protein binding | oxidoreductase activity, acting on diphenols and related substances as donors, oxygen as acceptor http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0017061 | http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0046936 | http://purl.obolibrary.org/obo/GO_0004731 | http://purl.obolibrary.org/obo/GO_0047975 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016682 31978345 | 31978345 | | | 31978345 | 31978345 | 27478939,28514442,31875558,33961781 | 27959965,31978345 http://nanbyodata.jp/ontology/NANDO_2201055 NANDO:2201055 小児慢性特定疾病 Specific pediatric chronic disease 若年性特発性関節炎（全身型） Systemic juvenile idiopathic arthritis MONDO:0019434 exactMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_2201171 NANDO:2201171 小児慢性特定疾病 Specific pediatric chronic disease 軽症型ムコ多糖症II型 Mucopolysaccharidosis type II, attenuated form MONDO:0016316 exactMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_2201172 NANDO:2201172 小児慢性特定疾病 Specific pediatric chronic disease 中間型ムコ多糖症II型 Mucopolysaccharidosis type II, intermediate form MONDO:0016316 closeMatch http://glycosmos.org/glycogene/3423 3423 IDS protein binding | calcium ion binding | iduronate-2-sulfatase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423 15962010 | 28593992 | 10838181 http://nanbyodata.jp/ontology/NANDO_2201173 NANDO:2201173 小児慢性特定疾病 Specific pediatric chronic disease 重症型ムコ多糖症II型 Mucopolysaccharidosis type II, severe form MONDO:0016315 exactMatch http://glycosmos.org/glycogene/3455 3455 IFNAR2 protein binding | cytokine binding | type I interferon receptor activity | protein kinase binding | type I interferon binding | interleukin-22 receptor activity | JAK pathway signal transduction adaptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0004905 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0019962 | http://purl.obolibrary.org/obo/GO_0042018 | http://purl.obolibrary.org/obo/GO_0008269 11046044,16710296,17923090,21854986,28165510,33961781,7665574,9121453 | 8798579,8969169 | 10556041,21854986,7665574,7759950 | 7759950 | 7759950 | | 34813358 http://nanbyodata.jp/ontology/NANDO_2200770 NANDO:2200770 小児慢性特定疾病 Specific pediatric chronic disease STAT2欠損症 STAT2 deficiency MONDO:0014715 exactMatch http://glycosmos.org/glycogene/3586 3586 IL10 protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0005141 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0008083 16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884 http://nanbyodata.jp/ontology/NANDO_2200446 NANDO:2200446 小児慢性特定疾病 Specific pediatric chronic disease IL10欠損症 IL10 deficiency MONDO:0016542 exactMatch http://glycosmos.org/glycogene/3587 3587 IL10RA protein binding | signaling receptor activity | interleukin-10 binding | interleukin-10 receptor activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019969 | http://purl.obolibrary.org/obo/GO_0004920 11485736,12093920,12513909,15837194,16982608,18395809,20462497,22087322,24008843,32296183 | 8407942 | | 16982608,24367025 http://nanbyodata.jp/ontology/NANDO_2200446 NANDO:2200446 小児慢性特定疾病 Specific pediatric chronic disease IL10欠損症 IL10 deficiency MONDO:0016542 exactMatch http://glycosmos.org/glycogene/3588 3588 IL10RB signaling receptor activity | coreceptor activity | interleukin-10 receptor activity | protein binding http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0004920 | http://purl.obolibrary.org/obo/GO_0005515 8314576 | 16982608 | 10954742 | 12483210,12513909,15120653,16982608,20462497 http://nanbyodata.jp/ontology/NANDO_2200446 NANDO:2200446 小児慢性特定疾病 Specific pediatric chronic disease IL10欠損症 IL10 deficiency MONDO:0016542 exactMatch http://glycosmos.org/glycogene/593 593 BCKDHA protein binding | carboxy-lyase activity | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | metal ion binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016831 | http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047101 10745006,12902323,15166214,15576032,28514442,33961781 | 11839747 | 10745006,7883996,9582350 | | 3593587 http://nanbyodata.jp/ontology/NANDO_2201078 NANDO:2201078 小児慢性特定疾病 Specific pediatric chronic disease 古典型メープルシロップ尿症 Classic form maple syrup urine disease MONDO:0017051 exactMatch http://glycosmos.org/glycogene/593 593 BCKDHA protein binding | carboxy-lyase activity | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | metal ion binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016831 | http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047101 10745006,12902323,15166214,15576032,28514442,33961781 | 11839747 | 10745006,7883996,9582350 | | 3593587 http://nanbyodata.jp/ontology/NANDO_2201079 NANDO:2201079 小児慢性特定疾病 Specific pediatric chronic disease 中間型メープルシロップ尿症 Intermediate maple syrup urine disease MONDO:0017052 exactMatch http://glycosmos.org/glycogene/593 593 BCKDHA protein binding | carboxy-lyase activity | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | metal ion binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016831 | http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047101 10745006,12902323,15166214,15576032,28514442,33961781 | 11839747 | 10745006,7883996,9582350 | | 3593587 http://nanbyodata.jp/ontology/NANDO_2201080 NANDO:2201080 小児慢性特定疾病 Specific pediatric chronic disease 間欠型メープルシロップ尿症 Intermittent maple syrup urine disease MONDO:0017053 exactMatch http://glycosmos.org/glycogene/593 593 BCKDHA protein binding | carboxy-lyase activity | 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | metal ion binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016831 | http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0047101 10745006,12902323,15166214,15576032,28514442,33961781 | 11839747 | 10745006,7883996,9582350 | | 3593587 http://nanbyodata.jp/ontology/NANDO_2201081 NANDO:2201081 小児慢性特定疾病 Specific pediatric chronic disease チアミン反応型メープルシロップ尿症 Thiamine-responsive maple syrup urine disease MONDO:0017054 exactMatch http://glycosmos.org/glycogene/594 594 BCKDHB 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | protein-containing complex binding | protein binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047101 10745006,2022752,9582350 | | 10745006,12902323,15166214,15576032,28514442,33961781 | 3593587 http://nanbyodata.jp/ontology/NANDO_2201078 NANDO:2201078 小児慢性特定疾病 Specific pediatric chronic disease 古典型メープルシロップ尿症 Classic form maple syrup urine disease MONDO:0017051 exactMatch http://glycosmos.org/glycogene/594 594 BCKDHB 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | protein-containing complex binding | protein binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047101 10745006,2022752,9582350 | | 10745006,12902323,15166214,15576032,28514442,33961781 | 3593587 http://nanbyodata.jp/ontology/NANDO_2201079 NANDO:2201079 小児慢性特定疾病 Specific pediatric chronic disease 中間型メープルシロップ尿症 Intermediate maple syrup urine disease MONDO:0017052 exactMatch http://glycosmos.org/glycogene/594 594 BCKDHB 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | protein-containing complex binding | protein binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047101 10745006,2022752,9582350 | | 10745006,12902323,15166214,15576032,28514442,33961781 | 3593587 http://nanbyodata.jp/ontology/NANDO_2201080 NANDO:2201080 小児慢性特定疾病 Specific pediatric chronic disease 間欠型メープルシロップ尿症 Intermittent maple syrup urine disease MONDO:0017053 exactMatch http://glycosmos.org/glycogene/594 594 BCKDHB 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity | protein-containing complex binding | protein binding | 2-oxoisovalerate dehydrogenase (acylating) activity http://purl.obolibrary.org/obo/GO_0003863 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0047101 10745006,2022752,9582350 | | 10745006,12902323,15166214,15576032,28514442,33961781 | 3593587 http://nanbyodata.jp/ontology/NANDO_2201081 NANDO:2201081 小児慢性特定疾病 Specific pediatric chronic disease チアミン反応型メープルシロップ尿症 Thiamine-responsive maple syrup urine disease MONDO:0017054 exactMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10512 10512 SEMA3C semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | http://purl.obolibrary.org/obo/GO_0005515 | | | 33961781 http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_2201227 NANDO:2201227 小児慢性特定疾病 Specific pediatric chronic disease 新生児型マルチプルスルファターゼ欠損症 Neonatal multiple sulfatase deficiency MONDO:0010088 closeMatch http://glycosmos.org/glycogene/285362 285362 SUMF1 oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0016491 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1903135 | http://purl.obolibrary.org/obo/GO_0120147 | http://purl.obolibrary.org/obo/GO_0042802 | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010 http://nanbyodata.jp/ontology/NANDO_2201228 NANDO:2201228 小児慢性特定疾病 Specific pediatric chronic disease 乳幼児型マルチプルスルファターゼ欠損症 Late-infantile multiple sulfatase deficiency MONDO:0010088 closeMatch http://glycosmos.org/glycogene/1200 1200 TPP1 metal ion binding | protein binding | serine-type endopeptidase activity | peptide binding | peptidase activity | lysophosphatidic acid binding | tripeptidyl-peptidase activity | endopeptidase activity | sulfatide binding | serine-type peptidase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0008240 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008236 | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422 http://nanbyodata.jp/ontology/NANDO_2201242 NANDO:2201242 小児慢性特定疾病 Specific pediatric chronic disease 遅発乳児型神経セロイドリポフスチン症 Late infantile neuronal ceroid lipofuscinosis MONDO:0008769 closeMatch http://glycosmos.org/glycogene/10382 10382 TUBB4A GTP binding | protein binding | structural constituent of cytoskeleton | calcium ion binding | GTPase activity http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003924 | 20195357,24275654,31046837 | | 10211825 | http://nanbyodata.jp/ontology/NANDO_2201290 NANDO:2201290 小児慢性特定疾病 Specific pediatric chronic disease 基底核および小脳萎縮を伴う髄鞘形成不全症 Hypomyelination with atrophy of the basal ganglia and cerebellum MONDO:0012905 exactMatch http://glycosmos.org/glycogene/1308 1308 COL17A1 extracellular matrix structural constituent conferring tensile strength | protein binding | heparin binding http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28344315 | 12482924,32296183 | http://nanbyodata.jp/ontology/NANDO_2201379 NANDO:2201379 小児慢性特定疾病 Specific pediatric chronic disease 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/1277 1277 COL1A1 protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201256 NANDO:2201256 小児慢性特定疾病 Specific pediatric chronic disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1277 1277 COL1A1 protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201260 NANDO:2201260 小児慢性特定疾病 Specific pediatric chronic disease 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 exactMatch http://glycosmos.org/glycogene/1278 1278 COL1A2 protein binding | metal ion binding | protein-macromolecule adaptor activity | SMAD binding | identical protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent | protease binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0030020 18375391,25416956,26848503,26871637,32095531,32296183 | | 18375391 | | 17211858 | 8900172 | 8982144 | 19932771 | 20551380,25037231,27559042,28327460,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2201260 NANDO:2201260 小児慢性特定疾病 Specific pediatric chronic disease 多発関節弛緩型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, arthrochalasis type MONDO:0007525 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201345 NANDO:2201345 小児慢性特定疾病 Specific pediatric chronic disease 軟骨無発生症2型 Achondrogenesis type 2 MONDO:0008702 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201346 NANDO:2201346 小児慢性特定疾病 Specific pediatric chronic disease 軟骨低発生症 Hypochondrogenesis MONDO:0019669 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201347 NANDO:2201347 小児慢性特定疾病 Specific pediatric chronic disease 扁平椎異形成症 Torrance型 Platyspondylic dysplasia, Torrance type MONDO:0007895 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201348 NANDO:2201348 小児慢性特定疾病 Specific pediatric chronic disease 先天性脊椎骨端異形成症 Spondyloepiphyseal dysplasia congenita MONDO:0008471 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201349 NANDO:2201349 小児慢性特定疾病 Specific pediatric chronic disease 脊椎骨端骨幹端異形成症 Strudwick型 Spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0008476 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201350 NANDO:2201350 小児慢性特定疾病 Specific pediatric chronic disease Kniest異形成症 Kniest dysplasia MONDO:0007987 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201351 NANDO:2201351 小児慢性特定疾病 Specific pediatric chronic disease 脊椎末梢異形成症 Spondyloperipheral dysplasia MONDO:0010078 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201352 NANDO:2201352 小児慢性特定疾病 Specific pediatric chronic disease 早発性関節症を伴う軽症脊椎骨端異形成症 Mild spondyloepiphyseal dysplasia with premature-onset arthrosis MONDO:0011496 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201353 NANDO:2201353 小児慢性特定疾病 Specific pediatric chronic disease 中足骨短縮を伴う脊椎骨端異形成症 Spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0012206 exactMatch http://glycosmos.org/glycogene/1280 1280 COL2A1 protein binding | proteoglycan binding | metal ion binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | MHC class II protein binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0042289 | http://purl.obolibrary.org/obo/GO_0048407 32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201354 NANDO:2201354 小児慢性特定疾病 Specific pediatric chronic disease Stickler症候群1型 Stickler syndrome type 1 MONDO:0007160 exactMatch http://glycosmos.org/glycogene/1281 1281 COL3A1 protease binding | integrin binding | metal ion binding | extracellular matrix structural constituent conferring tensile strength | SMAD binding | extracellular matrix structural constituent | platelet-derived growth factor binding | protein binding http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0048407 | http://purl.obolibrary.org/obo/GO_0005515 19932771 | 14970208,9573018 | | 25037231,27559042,28327460,28344315,28675934 | | 7487954,9036918 | 8900172 | 16754721,16912226,19011090,20015075,28258187,2839553,32296183 http://nanbyodata.jp/ontology/NANDO_2201258 NANDO:2201258 小児慢性特定疾病 Specific pediatric chronic disease 血管型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, vascular type MONDO:0017314 exactMatch http://glycosmos.org/glycogene/1289 1289 COL5A1 extracellular matrix structural constituent conferring tensile strength | metal ion binding | heparin binding | protein binding | integrin binding | proteoglycan binding | platelet-derived growth factor binding http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0048407 20551380,25037231,27559042,28327460,28344315,28675934 | | 2203476 | 20979576,28514442,33961781 | 14970208 | 9099729 | 8900172 http://nanbyodata.jp/ontology/NANDO_2201256 NANDO:2201256 小児慢性特定疾病 Specific pediatric chronic disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1290 1290 COL5A2 SMAD binding | metal ion binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030020 | | 25037231,27068509,27559042,28327460,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2201256 NANDO:2201256 小児慢性特定疾病 Specific pediatric chronic disease 古典型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, classical type MONDO:0007522 exactMatch http://glycosmos.org/glycogene/1294 1294 COL7A1 serine-type endopeptidase inhibitor activity | protein binding | extracellular matrix structural constituent conferring tensile strength http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | 19269366 | 25037231,28344315,28675934 http://nanbyodata.jp/ontology/NANDO_2201383 NANDO:2201383 小児慢性特定疾病 Specific pediatric chronic disease 劣性重症汎発型栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:0009179 exactMatch http://glycosmos.org/glycogene/1371 1371 CPOX structural constituent of eye lens | coproporphyrinogen oxidase activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005212 | http://purl.obolibrary.org/obo/GO_0004109 | http://purl.obolibrary.org/obo/GO_0042803 | 7987309 | 16176984 http://nanbyodata.jp/ontology/NANDO_2201264 NANDO:2201264 小児慢性特定疾病 Specific pediatric chronic disease 遺伝性コプロポルフィリン症 Hereditary coproporphyria MONDO:0007369 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_2201234 NANDO:2201234 小児慢性特定疾病 Specific pediatric chronic disease 腎型シスチン症 Nephropathic cystinosis MONDO:0018467 closeMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_2201235 NANDO:2201235 小児慢性特定疾病 Specific pediatric chronic disease 中間型シスチン症 Intermediate cystinosis MONDO:0009066 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_2201236 NANDO:2201236 小児慢性特定疾病 Specific pediatric chronic disease 非腎型シスチン症 Non-nephropathic cystinosis MONDO:0009064 exactMatch http://glycosmos.org/glycogene/1536 1536 CYBB protein heterodimerization activity | NADPH binding | metal ion binding | superoxide-generating NAD(P)H oxidase activity | electron transfer activity | FAD binding | superoxide-generating NADPH oxidase activity | heme binding | voltage-gated proton channel activity | flavin adenine dinucleotide binding | protein binding http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070402 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0016175 | http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0071949 | http://purl.obolibrary.org/obo/GO_0106292 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030171 | http://purl.obolibrary.org/obo/GO_0050660 | http://purl.obolibrary.org/obo/GO_0005515 12042318 | 36413210,38355798 | | 12042318,12716910 | 12042318 | 36413210,38355798 | 15338276,36241643,36413210,38355798 | 9774399 | 11477065,12034764 | 9774399 | 22808130,28351984,32296183,3305576 http://nanbyodata.jp/ontology/NANDO_2201279 NANDO:2201279 小児慢性特定疾病 Specific pediatric chronic disease gp91phox欠損慢性肉芽腫症 gp91phox-deficient chronic granulomatous disease MONDO:0010389 exactMatch http://glycosmos.org/glycogene/10682 10682 EBP cholestenol delta-isomerase activity | C-8 sterol isomerase activity | steroid delta-isomerase activity | identical protein binding | protein binding | cholesterol-5,6-oxide hydrolase activity http://purl.obolibrary.org/obo/GO_0047750 | http://purl.obolibrary.org/obo/GO_0000247 | http://purl.obolibrary.org/obo/GO_0004769 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033963 | | 10391218,10391219,9894009 | 32296183 | 25910212,32296183 | 20615952 http://nanbyodata.jp/ontology/NANDO_2201357 NANDO:2201357 小児慢性特定疾病 Specific pediatric chronic disease X染色体優性 Conradi-Hunermann型点状軟骨異形成症 X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type MONDO:0020603 exactMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1889 1889 ECE1 zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846 http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/1910 1910 EDNRB endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0004962 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0031702 | http://purl.obolibrary.org/obo/GO_0005515 1713452,19767294,28236341 | 1713452 | | 23597562 http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/10555 10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase activity http://purl.obolibrary.org/obo/GO_0003841 15629135,19075029,21873652,9212163,9242711,9461603 http://nanbyodata.jp/ontology/NANDO_2201444 NANDO:2201444 小児慢性特定疾病 Specific pediatric chronic disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/3655 3655 ITGA6 cadherin binding | laminin binding | insulin-like growth factor I binding | metal ion binding | neuregulin binding | integrin binding | protein binding http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0043236 | http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0038132 | http://purl.obolibrary.org/obo/GO_0005178 | http://purl.obolibrary.org/obo/GO_0005515 25468996 | | 22351760 | | 20682778 | | 10811835,15466886,21880726,2649503,33961781,35271311,35657344,9360996 http://nanbyodata.jp/ontology/NANDO_2201380 NANDO:2201380 小児慢性特定疾病 Specific pediatric chronic disease 幽門閉鎖合併型表皮水疱症 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 exactMatch http://glycosmos.org/glycogene/3691 3691 ITGB4 insulin-like growth factor I binding | metal ion binding | G protein-coupled receptor binding | neuregulin binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001664 | http://purl.obolibrary.org/obo/GO_0038132 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 22351760 | | 24851274 | 20682778 | 10811835,11375975,12482924,19242489,19403692,20603614,21880726,24007983,24851274,25703379,2649503,27178753,32296183,33961781,35657344 | http://nanbyodata.jp/ontology/NANDO_2201379 NANDO:2201379 小児慢性特定疾病 Specific pediatric chronic disease 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3691 3691 ITGB4 insulin-like growth factor I binding | metal ion binding | G protein-coupled receptor binding | neuregulin binding | protein binding | integrin binding http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0001664 | http://purl.obolibrary.org/obo/GO_0038132 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178 22351760 | | 24851274 | 20682778 | 10811835,11375975,12482924,19242489,19403692,20603614,21880726,24007983,24851274,25703379,2649503,27178753,32296183,33961781,35657344 | http://nanbyodata.jp/ontology/NANDO_2201380 NANDO:2201380 小児慢性特定疾病 Specific pediatric chronic disease 幽門閉鎖合併型表皮水疱症 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 exactMatch http://glycosmos.org/glycogene/3753 3753 KCNE1 telethonin binding | protein binding | transmembrane transporter binding | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | protein-containing complex binding | voltage-gated potassium channel activity | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | potassium channel regulator activity http://purl.obolibrary.org/obo/GO_0031433 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0086008 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0015459 11697903 | 11101505,11697903,19521339,20196769,20533308,25037568,9230439 | | 10400998 | 10400998,11299204,12522251,19646991,24269949,8900283,9354802 | | 17289006,9230439 | 9354802 | 10400998,11220365,12522251,19219384,8900283 http://nanbyodata.jp/ontology/NANDO_2201453 NANDO:2201453 小児慢性特定疾病 Specific pediatric chronic disease Jervell Lange Nielsen症候群 Jervell Lange Nielsen syndrome MONDO:0002441 exactMatch http://glycosmos.org/glycogene/3784 3784 KCNQ1 transmembrane transporter binding | voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | protein kinase A regulatory subunit binding | protein binding | protein kinase A catalytic subunit binding | calmodulin binding | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | outward rectifier potassium channel activity | voltage-gated potassium channel activity | voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization | delayed rectifier potassium channel activity | phosphatidylinositol-4,5-bisphosphate binding | scaffold protein binding | protein phosphatase 1 binding http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0034237 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0034236 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015271 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0086008 | http://purl.obolibrary.org/obo/GO_0005251 | http://purl.obolibrary.org/obo/GO_0005546 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0008157 11101505,20196769,24855057,25037568 | 8528244 | 11799244 | 12324418,19521339,19687231,20533308,22024150,23529131,24595108 | 11799244 | 18165683 | 12522251,25786344 | 11101505,25705178,9312006 | 12324418,16002409,17289006,24595108,24855057,8900283,9305853 | 12522251 | 10400998,11299204,12522251,19646991,24184248,24269949,25037568,8900283,9354802 | 25037568 | 11799244,16002409,18093912 | 11799244 http://nanbyodata.jp/ontology/NANDO_2201453 NANDO:2201453 小児慢性特定疾病 Specific pediatric chronic disease Jervell Lange Nielsen症候群 Jervell Lange Nielsen syndrome MONDO:0002441 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_2201342 NANDO:2201342 小児慢性特定疾病 Specific pediatric chronic disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_2201378 NANDO:2201378 小児慢性特定疾病 Specific pediatric chronic disease ヘルリッツ型表皮水疱症 Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3909 3909 LAMA3 signaling receptor binding | structural molecule activity | extracellular matrix structural constituent http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201 | 8586427 | 27068509 http://nanbyodata.jp/ontology/NANDO_2201379 NANDO:2201379 小児慢性特定疾病 Specific pediatric chronic disease 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_2201342 NANDO:2201342 小児慢性特定疾病 Specific pediatric chronic disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_2201378 NANDO:2201378 小児慢性特定疾病 Specific pediatric chronic disease ヘルリッツ型表皮水疱症 Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3914 3914 LAMB3 extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0044877 25037231 | 7550320 | 19275936 | http://nanbyodata.jp/ontology/NANDO_2201379 NANDO:2201379 小児慢性特定疾病 Specific pediatric chronic disease 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_2201342 NANDO:2201342 小児慢性特定疾病 Specific pediatric chronic disease 接合部型表皮水疱症 Junctional epidermolysis bullosa MONDO:0017612 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_2201378 NANDO:2201378 小児慢性特定疾病 Specific pediatric chronic disease ヘルリッツ型表皮水疱症 Herlitz junctional epidermolysis bullosa MONDO:0009182 exactMatch http://glycosmos.org/glycogene/3918 3918 LAMC2 extracellular matrix structural constituent | heparin binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201 25037231,28675934 | http://nanbyodata.jp/ontology/NANDO_2201379 NANDO:2201379 小児慢性特定疾病 Specific pediatric chronic disease 非ヘルリッツ型表皮水疱症 Non-Herlitz junctional epidermolysis bullosa MONDO:0009180 exactMatch http://glycosmos.org/glycogene/3930 3930 LBR protein binding | RNA binding | lamin binding | NADPH binding | chromatin-protein adaptor activity | delta14-sterol reductase activity | chromo shadow domain binding | DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0005521 | http://purl.obolibrary.org/obo/GO_0070402 | http://purl.obolibrary.org/obo/GO_0140463 | http://purl.obolibrary.org/obo/GO_0050613 | http://purl.obolibrary.org/obo/GO_0070087 | http://purl.obolibrary.org/obo/GO_0003677 26009488,28514442,28565870,32296183,32694168,33961781,35271311,8663349 | 22681889 | 8157662 | 27336722 | | 12618959,16784888,21327084,27336722,9630650 | 15882967 | http://nanbyodata.jp/ontology/NANDO_2201361 NANDO:2201361 小児慢性特定疾病 Specific pediatric chronic disease Greenberg骨異形成症 Greenberg dysplasia MONDO:0008974 exactMatch http://glycosmos.org/glycogene/3949 3949 LDLR amyloid-beta binding | low-density lipoprotein particle receptor activity | molecular adaptor activity | low-density lipoprotein particle binding | very-low-density lipoprotein particle receptor activity | protease binding | identical protein binding | clathrin heavy chain binding | lipoprotein particle binding | protein binding | calcium ion binding | virus receptor activity http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005041 | http://purl.obolibrary.org/obo/GO_0060090 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0030229 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0032050 | http://purl.obolibrary.org/obo/GO_0071813 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0001618 | 20005821,22848640,6091915,6299582,8626535 | 22091758 | 6299582 | 8626535 | 22081141,22848640 | 26526611 | 12121421 | | 10571240,12221107,17452316,17461796,18250299,18753623,20030366,20223219,22081141,22509010,23589850,24447298,25613181,28514442,30443021,32296183,33420426,33961781 | | http://nanbyodata.jp/ontology/NANDO_2201255 NANDO:2201255 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_2201232 NANDO:2201232 小児慢性特定疾病 Specific pediatric chronic disease ウォルマン病 Wolman disease MONDO:0019148 exactMatch http://glycosmos.org/glycogene/3988 3988 LIPA lipase activity | sterol esterase activity | hydrolase activity http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787 1718995 | 15269241,1718995,7204383,8112342,9633819 | http://nanbyodata.jp/ontology/NANDO_2201233 NANDO:2201233 小児慢性特定疾病 Specific pediatric chronic disease コレステロールエステル蓄積症 Cholesterol ester storage disease MONDO:0019149 exactMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/223117 223117 SEMA3D semaphorin receptor binding | neuropilin binding | chemorepellent activity http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499 | | http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/6925 6925 TCF4 TFIIB-class transcription factor binding | E-box binding | DNA binding | identical protein binding | beta-catenin binding | sequence-specific double-stranded DNA binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein heterodimerization activity | DNA-binding transcription factor activity, RNA polymerase II-specific | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity http://purl.obolibrary.org/obo/GO_0001093 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003700 8978694 | 8978694 | 1681116 | 10903890,25609649 | 29739711 | 28473536 | 10903890,16549780,17318191,17983804,19534813,21103407,21743491,21988832,25402006,25416956,25466284,25609649,25910212,26871637,28051067,28514442,29361949,29892012,31515488,32296183,32814053,33961781,35140242,36217029,37207277,9824680 | 12651860,8978694 | | 8978694 | 8978694 | 11802795,2105528 http://nanbyodata.jp/ontology/NANDO_2201419 NANDO:2201419 小児慢性特定疾病 Specific pediatric chronic disease ピット・ホプキンス症候群 Pitt-Hopkins syndrome MONDO:0012589 exactMatch http://glycosmos.org/glycogene/50964 50964 SOST heparin binding | BMP binding | DNA-binding transcription factor binding | protein binding | carbohydrate binding | molecular function inhibitor activity http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0140678 | | 17696759 | 15908424,21471202,21944579,28514442,32296183,33961781 | 19208630 | 19208630,21944579 http://nanbyodata.jp/ontology/NANDO_2201368 NANDO:2201368 小児慢性特定疾病 Specific pediatric chronic disease 頭蓋骨幹異形成症 Craniodiaphyseal dysplasia MONDO:0009031 exactMatch http://glycosmos.org/glycogene/50964 50964 SOST heparin binding | BMP binding | DNA-binding transcription factor binding | protein binding | carbohydrate binding | molecular function inhibitor activity http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0140678 | | 17696759 | 15908424,21471202,21944579,28514442,32296183,33961781 | 19208630 | 19208630,21944579 http://nanbyodata.jp/ontology/NANDO_2201369 NANDO:2201369 小児慢性特定疾病 Specific pediatric chronic disease 硬化性骨症 Sclerosteosis MONDO:0017838 exactMatch http://glycosmos.org/glycogene/157680 157680 VPS13B phosphatidylinositol-3-phosphate binding http://purl.obolibrary.org/obo/GO_0032266 "" http://nanbyodata.jp/ontology/NANDO_2201418 NANDO:2201418 小児慢性特定疾病 Specific pediatric chronic disease コーエン症候群 Cohen syndrome MONDO:0008999 exactMatch http://glycosmos.org/glycogene/23592 23592 LEMD3 protein binding | U1 snRNP binding | DNA binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990446 | http://purl.obolibrary.org/obo/GO_0003677 15231748,15647271,24407287,28514442,32296183,33961781 | | http://nanbyodata.jp/ontology/NANDO_2201364 NANDO:2201364 小児慢性特定疾病 Specific pediatric chronic disease 流蝋骨症 Melorheostosis MONDO:0007970 exactMatch http://glycosmos.org/glycogene/25778 25778 DSTYK protein tyrosine kinase activity | protein serine/threonine/tyrosine kinase activity | protein binding | protein serine kinase activity | protein serine/threonine kinase activity | ATP binding http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005524 | | 36931259 | | | http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/11128 11128 POLR3A zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial single subunit type RNA polymerase activity | magnesium ion binding | DNA binding | RNA polymerase IV activity | RNA polymerase I activity | chromatin binding | RNA polymerase II activity | RNA polymerase III activity | DNA/RNA hybrid binding | plastid single subunit type RNA polymerase activity | DNA-directed 5'-3' RNA polymerase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001058 | http://purl.obolibrary.org/obo/GO_0001065 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001057 | http://purl.obolibrary.org/obo/GO_0001054 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0001055 | http://purl.obolibrary.org/obo/GO_0001056 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0001066 | http://purl.obolibrary.org/obo/GO_0003899 34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371 http://nanbyodata.jp/ontology/NANDO_2201295 NANDO:2201295 小児慢性特定疾病 Specific pediatric chronic disease 小脳萎縮と脳梁低形成を伴うびまん性大脳白質形成不全症 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum MONDO:0018655 exactMatch http://glycosmos.org/glycogene/11128 11128 POLR3A zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial single subunit type RNA polymerase activity | magnesium ion binding | DNA binding | RNA polymerase IV activity | RNA polymerase I activity | chromatin binding | RNA polymerase II activity | RNA polymerase III activity | DNA/RNA hybrid binding | plastid single subunit type RNA polymerase activity | DNA-directed 5'-3' RNA polymerase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001058 | http://purl.obolibrary.org/obo/GO_0001065 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0001057 | http://purl.obolibrary.org/obo/GO_0001054 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0001055 | http://purl.obolibrary.org/obo/GO_0001056 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0001066 | http://purl.obolibrary.org/obo/GO_0003899 34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371 http://nanbyodata.jp/ontology/NANDO_2201297 NANDO:2201297 小児慢性特定疾病 Specific pediatric chronic disease 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 exactMatch http://glycosmos.org/glycogene/2022 2022 ENG transmembrane signaling receptor activity | coreceptor activity | BMP binding | protein binding | signaling receptor activator activity | transforming growth factor beta binding | transforming growth factor beta receptor activity | type II transforming growth factor beta receptor binding | galactose binding | protein homodimerization activity | type I transforming growth factor beta receptor binding | glycosaminoglycan binding | identical protein binding | activin binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030546 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048185 18974388 | 12015308,18223685 | 9872992 | 15702480,20856203,22940691,23868260,28564608,31540324,9872992 | 12015308 | 1326540,8370410,9872992 | | 12015308,8294451 | 3262645 | 8370410 | 12015308,18974388,8294451 | 3262645,8294451 | 28564608 | 11382917 http://nanbyodata.jp/ontology/NANDO_2201454 NANDO:2201454 小児慢性特定疾病 Specific pediatric chronic disease 全消化管型若年性ポリポーシス Generalized juvenile polyposis MONDO:0008276 closeMatch http://glycosmos.org/glycogene/2022 2022 ENG transmembrane signaling receptor activity | coreceptor activity | BMP binding | protein binding | signaling receptor activator activity | transforming growth factor beta binding | transforming growth factor beta receptor activity | type II transforming growth factor beta receptor binding | galactose binding | protein homodimerization activity | type I transforming growth factor beta receptor binding | glycosaminoglycan binding | identical protein binding | activin binding http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030546 | http://purl.obolibrary.org/obo/GO_0050431 | http://purl.obolibrary.org/obo/GO_0005024 | http://purl.obolibrary.org/obo/GO_0005114 | http://purl.obolibrary.org/obo/GO_0005534 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0034713 | http://purl.obolibrary.org/obo/GO_0005539 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048185 18974388 | 12015308,18223685 | 9872992 | 15702480,20856203,22940691,23868260,28564608,31540324,9872992 | 12015308 | 1326540,8370410,9872992 | | 12015308,8294451 | 3262645 | 8370410 | 12015308,18974388,8294451 | 3262645,8294451 | 28564608 | 11382917 http://nanbyodata.jp/ontology/NANDO_2201457 NANDO:2201457 小児慢性特定疾病 Specific pediatric chronic disease 大腸限局型若年性ポリポーシス Juvenile polyposis coli MONDO:0008276 closeMatch http://glycosmos.org/glycogene/2162 2162 F13A1 protein-glutamine gamma-glutamyltransferase activity | protein binding | metal ion binding http://purl.obolibrary.org/obo/GO_0003810 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 27363989 | 32814053 | http://nanbyodata.jp/ontology/NANDO_2201460 NANDO:2201460 小児慢性特定疾病 Specific pediatric chronic disease 第XIII因子欠乏症II型 Type II factor XIII deficiency MONDO:0013187 exactMatch http://glycosmos.org/glycogene/2165 2165 F13B "" "" "" http://nanbyodata.jp/ontology/NANDO_2201459 NANDO:2201459 小児慢性特定疾病 Specific pediatric chronic disease 第XIII因子欠乏症I型 Type I factor XIII deficiency MONDO:0013190 exactMatch http://glycosmos.org/glycogene/2153 2153 F5 copper ion binding | protein binding http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515 | 2844223,28514442,33961781,6323392,9556620 http://nanbyodata.jp/ontology/NANDO_2201475 NANDO:2201475 小児慢性特定疾病 Specific pediatric chronic disease バッド・キアリ症候群 Budd-Chiari syndrome MONDO:0010947 exactMatch http://glycosmos.org/glycogene/2260 2260 FGFR1 receptor-receptor interaction | insulin-like growth factor receptor activity | identical protein binding | epidermal growth factor receptor activity | platelet-derived growth factor alpha-receptor activity | macrophage colony-stimulating factor receptor activity | SH2 domain binding | fibroblast growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase collagen receptor activity | boss receptor activity | protein binding | protein tyrosine kinase activity | insulin receptor activity | vascular endothelial growth factor receptor activity | hepatocyte growth factor receptor activity | ATP binding | brain-derived neurotrophic factor receptor activity | GPI-linked ephrin receptor activity | stem cell factor receptor activity | fibroblast growth factor binding | heparin binding | transmembrane-ephrin receptor activity | platelet-derived growth factor beta-receptor activity | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0090722 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0042169 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0042803 24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 10490103,10830168,11030354,11401320,14613973,1656221,17086194,18412956,18441324,19665973,19696444,19966287,20932831,21765395,22035699,22751148,22939624,23063561,23597562,23597563,24157794,25241761,25485703,26267536,31980649,32814053,33961781,35384245,8321198,8753773,9660748 | 8622701 | | | | | | | | 18480409,8663044 | 18480409 | | | 20133753 http://nanbyodata.jp/ontology/NANDO_2201305 NANDO:2201305 小児慢性特定疾病 Specific pediatric chronic disease 非症候性頭蓋骨縫合早期癒合症（前頭縫合） Non-syndromic metopic craniosynostosis MONDO:0018065 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201427 NANDO:2201427 小児慢性特定疾病 Specific pediatric chronic disease タナトフォリック骨異形成症1型 Thanatophoric dysplasia type 1 MONDO:0008546 exactMatch http://glycosmos.org/glycogene/2261 2261 FGFR3 fibroblast growth factor receptor activity | fibroblast growth factor binding | platelet-derived growth factor alpha-receptor activity | protein tyrosine kinase collagen receptor activity | hepatocyte growth factor receptor activity | insulin-like growth factor receptor activity | vascular endothelial growth factor receptor activity | placental growth factor receptor activity | protein tyrosine kinase activity | protein binding | GPI-linked ephrin receptor activity | epidermal growth factor receptor activity | identical protein binding | insulin receptor activity | transmembrane-ephrin receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | ATP binding | macrophage colony-stimulating factor receptor activity | stem cell factor receptor activity | brain-derived neurotrophic factor receptor activity http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0017134 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0036332 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0060175 8663044 | 12815063,8663044 | | | | | | | 11294897 | 14732692,16169070,22939624,25036637,32814053,33961781,35384245 | | | 14732692,23972473,24120763 | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201428 NANDO:2201428 小児慢性特定疾病 Specific pediatric chronic disease タナトフォリック骨異形成症2型 Thanatophoric dysplasia type 2 MONDO:0008547 exactMatch http://glycosmos.org/glycogene/2353 2353 FOS sequence-specific double-stranded DNA binding | protein-containing complex binding | RNA polymerase II core promoter sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity, RNA polymerase II-specific | identical protein binding | transcription cis-regulatory region binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity | transcription coregulator binding | RNA polymerase II-specific DNA-binding transcription factor binding | R-SMAD binding | protein binding http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0000979 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0005515 28473536 | | 10704222 | 30670568 | | | 23661758,25609649 | 9732876 | 30670568 | 10704222,9732876 | 10523647 | 10508860 | 9732876 | 12788789,16511568,18172215,19028685,19064921,20102225,20195357,20211142,20511396,20936779,21199371,22308434,23602568,23661758,24029232,25241761,25609649,26496610,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35140242,37398436,7816143 http://nanbyodata.jp/ontology/NANDO_2201444 NANDO:2201444 小児慢性特定疾病 Specific pediatric chronic disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/2475 2475 MTOR histone H3S28 kinase activity | RNA polymerase III type 3 promoter sequence-specific DNA binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S10 kinase activity | protein tyrosine kinase activity | histone H3T45 kinase activity | protein binding | histone H3T11 kinase activity | identical protein binding | DNA-dependent protein kinase activity | AMP-activated protein kinase activity | histone H2AS1 kinase activity | histone H2AT120 kinase activity | RNA polymerase III type 1 promoter sequence-specific DNA binding | ribosome binding | histone H3S57 kinase activity | RNA polymerase III type 2 promoter sequence-specific DNA binding | histone H2BS14 kinase activity | ATP binding | ribosomal protein S6 kinase activity | histone H3T3 kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | phosphoprotein binding | 3-phosphoinositide-dependent protein kinase activity | protein serine kinase activity | Rho-dependent protein serine/threonine kinase activity | TFIIIC-class transcription factor complex binding | inositol hexakisphosphate binding | protein kinase activity | histone H3T6 kinase activity | histone H4S1 kinase activity | histone H2AXS139 kinase activity | kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0001006 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0001002 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0001003 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0001156 | http://purl.obolibrary.org/obo/GO_0000822 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0016301 | 20233713 | | | 26584640 | | 10089303,11438723,12150925,12150926,12408816,15161933,15467718,16915281,17148612,17461779,17565979,18339839,18550814,18566587,18955708,19446321,19619545,19875983,20080789,20543138,20562859,20864032,21045808,21376236,21471201,21614075,22307628,22343943,22424946,22576015,22664266,22692423,23027611,23263282,23394946,23524951,23636326,23953116,24036451,24375676,24670654,25241761,25446900,25657994,25686248,26348909,26593251,26678875,26787466,27043084,29125601,29750193,29997244,30704899,30956113,32647003,33106485,33378666,33452816,33961781,35271311,35561222,36931259 | | 11438723,24670654 | | | | | 20233713 | 21376236 | | 20233713 | | | | | | 12087098,12718876,15467718,17517883,18372248,18925875,20022946,20537536,22017875,22017876,22017877,22343943,22576015,22692423,22768106,23426360,23524951,24403073,24448649,24670654,29236692,29424687,29567957,29750193,30704899,31695197,32561715,32612235,33110214,35662396,36608670,36691768 | | 11853878 | | | | 20543138 | 33158864 | 12150926 | | | | http://nanbyodata.jp/ontology/NANDO_2201502 NANDO:2201502 小児慢性特定疾病 Specific pediatric chronic disease 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 exactMatch http://glycosmos.org/glycogene/2475 2475 MTOR histone H3S28 kinase activity | RNA polymerase III type 3 promoter sequence-specific DNA binding | eukaryotic translation initiation factor 2alpha kinase activity | histone H3S10 kinase activity | protein tyrosine kinase activity | histone H3T45 kinase activity | protein binding | histone H3T11 kinase activity | identical protein binding | DNA-dependent protein kinase activity | AMP-activated protein kinase activity | histone H2AS1 kinase activity | histone H2AT120 kinase activity | RNA polymerase III type 1 promoter sequence-specific DNA binding | ribosome binding | histone H3S57 kinase activity | RNA polymerase III type 2 promoter sequence-specific DNA binding | histone H2BS14 kinase activity | ATP binding | ribosomal protein S6 kinase activity | histone H3T3 kinase activity | histone H2BS36 kinase activity | protein serine/threonine kinase activity | histone H2AS121 kinase activity | phosphoprotein binding | 3-phosphoinositide-dependent protein kinase activity | protein serine kinase activity | Rho-dependent protein serine/threonine kinase activity | TFIIIC-class transcription factor complex binding | inositol hexakisphosphate binding | protein kinase activity | histone H3T6 kinase activity | histone H4S1 kinase activity | histone H2AXS139 kinase activity | kinase activity http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0001006 | http://purl.obolibrary.org/obo/GO_0004694 | http://purl.obolibrary.org/obo/GO_0035175 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0140857 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0035402 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0004679 | http://purl.obolibrary.org/obo/GO_0044024 | http://purl.obolibrary.org/obo/GO_1990244 | http://purl.obolibrary.org/obo/GO_0001002 | http://purl.obolibrary.org/obo/GO_0043022 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0001003 | http://purl.obolibrary.org/obo/GO_0044025 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004711 | http://purl.obolibrary.org/obo/GO_0072354 | http://purl.obolibrary.org/obo/GO_0140823 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0051219 | http://purl.obolibrary.org/obo/GO_0004676 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0072518 | http://purl.obolibrary.org/obo/GO_0001156 | http://purl.obolibrary.org/obo/GO_0000822 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0035403 | http://purl.obolibrary.org/obo/GO_0044023 | http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0016301 | 20233713 | | | 26584640 | | 10089303,11438723,12150925,12150926,12408816,15161933,15467718,16915281,17148612,17461779,17565979,18339839,18550814,18566587,18955708,19446321,19619545,19875983,20080789,20543138,20562859,20864032,21045808,21376236,21471201,21614075,22307628,22343943,22424946,22576015,22664266,22692423,23027611,23263282,23394946,23524951,23636326,23953116,24036451,24375676,24670654,25241761,25446900,25657994,25686248,26348909,26593251,26678875,26787466,27043084,29125601,29750193,29997244,30704899,30956113,32647003,33106485,33378666,33452816,33961781,35271311,35561222,36931259 | | 11438723,24670654 | | | | | 20233713 | 21376236 | | 20233713 | | | | | | 12087098,12718876,15467718,17517883,18372248,18925875,20022946,20537536,22017875,22017876,22017877,22343943,22576015,22692423,22768106,23426360,23524951,24403073,24448649,24670654,29236692,29424687,29567957,29750193,30704899,31695197,32561715,32612235,33110214,35662396,36608670,36691768 | | 11853878 | | | | 20543138 | 33158864 | 12150926 | | | | http://nanbyodata.jp/ontology/NANDO_2201503 NANDO:2201503 小児慢性特定疾病 Specific pediatric chronic disease 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 exactMatch http://glycosmos.org/glycogene/2548 2548 GAA carbohydrate binding | alpha-glucosidase activity | alpha-1,4-glucosidase activity http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0090599 | http://purl.obolibrary.org/obo/GO_0004558 | 5264799 | 29061980,9505277 http://nanbyodata.jp/ontology/NANDO_2201229 NANDO:2201229 小児慢性特定疾病 Specific pediatric chronic disease 乳児型ポンペ病 Classic infantile Pompe disease MONDO:0017694 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_2201216 NANDO:2201216 小児慢性特定疾病 Specific pediatric chronic disease 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 exactMatch http://glycosmos.org/glycogene/2581 2581 GALC galactosylceramidase activity http://purl.obolibrary.org/obo/GO_0004336 8281145,8399327 http://nanbyodata.jp/ontology/NANDO_2201219 NANDO:2201219 小児慢性特定疾病 Specific pediatric chronic disease 成人型クラッベ病 Adult Krabbe disease MONDO:0016091 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_2201211 NANDO:2201211 小児慢性特定疾病 Specific pediatric chronic disease ゴーシェ病2型 Gaucher disease type 2 MONDO:0009266 exactMatch http://glycosmos.org/glycogene/2629 2629 GBA1 steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding http://purl.obolibrary.org/obo/GO_0050295 | http://purl.obolibrary.org/obo/GO_0016757 | http://purl.obolibrary.org/obo/GO_0004336 | http://purl.obolibrary.org/obo/GO_0046527 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0004348 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005124 24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012 http://nanbyodata.jp/ontology/NANDO_2201212 NANDO:2201212 小児慢性特定疾病 Specific pediatric chronic disease ゴーシェ病3型 Gaucher disease type 3 MONDO:0009267 exactMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/2668 2668 GDNF growth factor activity | signaling receptor binding | chemoattractant activity involved in axon guidance | glial cell-derived neurotrophic factor receptor binding | protein binding | protein homodimerization activity | receptor tyrosine kinase binding http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_1902379 | http://purl.obolibrary.org/obo/GO_0030116 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/2903 2903 GRIN2A transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential | zinc ion binding | protein binding | amyloid-beta binding | glutamate-gated calcium ion channel activity | NMDA glutamate receptor activity http://purl.obolibrary.org/obo/GO_1904315 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0004972 | | 11937501,17360663,17997397,21653829,34321660 | 26719327 | 26875626,27839871 | 17526495,20890276,23933819,23933820,24504326,26875626,26919761,27288002,28095420,28126851,28242877,29644724,36117210,38307912,38538865 http://nanbyodata.jp/ontology/NANDO_2201429 NANDO:2201429 小児慢性特定疾病 Specific pediatric chronic disease ランドウ・クレフナー症候群 Landau-Kleffner syndrome MONDO:0009509 exactMatch http://glycosmos.org/glycogene/4297 4297 KMT2A histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine methyltransferase activity | unmethylated CpG binding | chromatin binding | histone H3K4 methyltransferase activity | protein homodimerization activity | minor groove of adenine-thymine-rich DNA binding | zinc ion binding | protein binding | histone H3K4 monomethyltransferase activity | identical protein binding http://purl.obolibrary.org/obo/GO_0140999 | http://purl.obolibrary.org/obo/GO_0070577 | http://purl.obolibrary.org/obo/GO_0106363 | http://purl.obolibrary.org/obo/GO_0045322 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042800 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003680 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140945 | http://purl.obolibrary.org/obo/GO_0042802 20861184 | 19187761 | 24235145 | 16990798,20010842,29276034 | | 15960975,19187761,19556245,22012064,24235145 | 11313484 | 1423624 | 16990798,19187761,29276034 | 11313484,14992727,15199122,15960975,18840606,19187761,19556245,20541251,20541477,20581860,20818375,20969867,21113167,21220120,22327296,22665483,22722839,22936661,23870121,24735925,24981860,25082813,25305204,25751424,26886794,27705803,29997176,33640491,33961781,37725512 | | 10656681,11313484 http://nanbyodata.jp/ontology/NANDO_2201417 NANDO:2201417 小児慢性特定疾病 Specific pediatric chronic disease ヴィーデマン・スタイナー症候群 Wiedemann-Steiner syndrome MONDO:0011518 exactMatch http://glycosmos.org/glycogene/4312 4312 MMP1 zinc ion binding | peptidase activity | serine-type endopeptidase activity | metalloendopeptidase activity | endopeptidase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0004175 | 23845380 | | 9920899 | 19022250 http://nanbyodata.jp/ontology/NANDO_2201383 NANDO:2201383 小児慢性特定疾病 Specific pediatric chronic disease 劣性重症汎発型栄養障害型表皮水疱症 Recessive dystrophic epidermolysis bullosa, generalized severe MONDO:0009179 exactMatch http://glycosmos.org/glycogene/4582 4582 MUC1 p53 binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | transcription coregulator activity http://purl.obolibrary.org/obo/GO_0002039 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0003712 15710329 | 16888623,21258405,21798038,22962849,24043631,24658140,31980649,32296183 | 15710329 | 15710329 http://nanbyodata.jp/ontology/NANDO_2201388 NANDO:2201388 小児慢性特定疾病 Specific pediatric chronic disease ADTKD-MUC1 ADTKD-MUC1 MONDO:0020726 exactMatch http://glycosmos.org/glycogene/4683 4683 NBN protein serine/threonine kinase activator activity | DNA-binding transcription factor binding | phosphorylation-dependent protein binding | protein binding | chromatin-protein adaptor activity | histone binding | damaged DNA binding http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0140031 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0140463 | http://purl.obolibrary.org/obo/GO_0042393 | http://purl.obolibrary.org/obo/GO_0003684 16622404 | 11486038 | 18411307,18582474,18583988,18678890,19804756,24534091,27814491,30787182 | 12419185,12470659,12607005,15916964,16377563,17500065,17612497,18001824,18001825,18583988,18678890,19609304,19683501,19759395,19804756,20224574,21108945,22078559,22157895,22565321,24534091,24651726,24981860,25064736,25558984,25895060,26869104,27568553,29656893,9590181 | 18411307,18583988,19804756,24534091,27814491,27889449,28216226,30787182,38961290 | 19338747 | 9590180 http://nanbyodata.jp/ontology/NANDO_2201276 NANDO:2201276 小児慢性特定疾病 Specific pediatric chronic disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/284119 284119 CAVIN1 rRNA primary transcript binding | RNA binding | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0042134 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 9582279 | 22658674 | 24013648,32296183 | 17026959,19525939,19726876,24013648,24567387,28514442,32296183,33961781 http://nanbyodata.jp/ontology/NANDO_2201444 NANDO:2201444 小児慢性特定疾病 Specific pediatric chronic disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/7355 7355 SLC35A2 antiporter activity | UDP-galactose transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0015297 | http://purl.obolibrary.org/obo/GO_0005459 | http://purl.obolibrary.org/obo/GO_0005515 | | 23089177,28167211,32296183,32827291,33961781 http://nanbyodata.jp/ontology/NANDO_2201499 NANDO:2201499 小児慢性特定疾病 Specific pediatric chronic disease 限局性皮質異形成タイプ1a Focal cortical dysplasia type 1a MONDO:0017096 exactMatch http://glycosmos.org/glycogene/7015 7015 TERT telomerase activity | protein-folding chaperone binding | template-free RNA nucleotidyltransferase | RNA-directed DNA polymerase activity | protein homodimerization activity | metal ion binding | telomeric DNA binding | telomerase RNA binding | RNA-dependent RNA polymerase activity | RNA binding | identical protein binding | transcription coactivator binding | protein binding | tRNA binding | DNA binding http://purl.obolibrary.org/obo/GO_0003720 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0098680 | http://purl.obolibrary.org/obo/GO_0003964 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042162 | http://purl.obolibrary.org/obo/GO_0070034 | http://purl.obolibrary.org/obo/GO_0003968 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000049 | http://purl.obolibrary.org/obo/GO_0003677 11927518,12135483,14991929,16043710,16507993,17940095,18082603,21531765,23474713,23784080,29695869,9398860,9443919 | 10197982,19751963 | 19701182 | 21937513,25569094 | 11432839,23474713 | | | 11432839,16507993,17940095,18082603,19701182,20351177 | 19701182 | 16507993,17940095,18082603,19701182,20351177 | 23474713 | 19571879 | 11701125,12377759,12699629,15044100,15381700,17237767,17940095,18082603,18358808,19179534,19487455,19567472,19571879,19843693,21119197,21829167,21846770,22011238,22226966,24550003,25172512,25589350,28255170 | 21937513 | 21937513 http://nanbyodata.jp/ontology/NANDO_2201276 NANDO:2201276 小児慢性特定疾病 Specific pediatric chronic disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_2201502 NANDO:2201502 小児慢性特定疾病 Specific pediatric chronic disease 限局性皮質異形成タイプ2a Focal cortical dysplasia type 2a MONDO:0017101 exactMatch http://glycosmos.org/glycogene/7249 7249 TSC2 GTPase activator activity | phosphatase binding | small GTPase binding | protein binding | Hsp90 protein binding | protein homodimerization activity http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0019902 | http://purl.obolibrary.org/obo/GO_0031267 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0051879 | http://purl.obolibrary.org/obo/GO_0042803 12842888,12906785,22819219,24529379,33436626,9045618 | 19389623 | 25936802 | 10585443,12176984,12364343,12582162,15161933,16636147,17693255,18381890,18692468,19389623,20169078,20169165,20412061,20618440,21134130,21653829,24255178,25263562,27451907,28561026,33436626,33473107,33961781,35271311,36931259,9580671,9809973 | 29127155 | 10585443 http://nanbyodata.jp/ontology/NANDO_2201503 NANDO:2201503 小児慢性特定疾病 Specific pediatric chronic disease 限局性皮質異形成タイプ2b Focal cortical dysplasia type 2b MONDO:0017102 exactMatch http://glycosmos.org/glycogene/80144 80144 FRAS1 extracellular matrix structural constituent | metal ion binding http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0046872 | http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/142680 142680 SLC34A3 sodium:phosphate symporter activity | protein binding http://purl.obolibrary.org/obo/GO_0005436 | http://purl.obolibrary.org/obo/GO_0005515 11880379 | 32296183 http://nanbyodata.jp/ontology/NANDO_2201479 NANDO:2201479 小児慢性特定疾病 Specific pediatric chronic disease 高カルシウム尿症を伴う遺伝性低リン血性くる病 Hereditary hypophosphatemic rickets with hypercalciuria MONDO:0009431 exactMatch http://glycosmos.org/glycogene/9509 9509 ADAMTS2 zinc ion binding | metalloendopeptidase activity | metallopeptidase activity http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0008237 | | 10417273 http://nanbyodata.jp/ontology/NANDO_2201261 NANDO:2201261 小児慢性特定疾病 Specific pediatric chronic disease 皮膚脆弱型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0009161 exactMatch http://glycosmos.org/glycogene/55315 55315 SLC29A3 organic cation transmembrane transporter activity | neurotransmitter transmembrane transporter activity | nucleoside transmembrane transporter activity | monoamine transmembrane transporter activity | nucleobase transmembrane transporter activity | cytidine transmembrane transporter activity | uridine transmembrane transporter activity | protein binding | uracil transmembrane transporter activity | guanine transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0015101 | http://purl.obolibrary.org/obo/GO_0005326 | http://purl.obolibrary.org/obo/GO_0005337 | http://purl.obolibrary.org/obo/GO_0008504 | http://purl.obolibrary.org/obo/GO_0015205 | http://purl.obolibrary.org/obo/GO_0015212 | http://purl.obolibrary.org/obo/GO_0015213 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015210 | http://purl.obolibrary.org/obo/GO_0015208 19164483 | 19164483 | 15701636,19164483,20595384,28729424 | 19164483 | 19164483 | 19164483 | 19164483,28729424 | 25910212 | 19164483 | 19164483 http://nanbyodata.jp/ontology/NANDO_2201365 NANDO:2201365 小児慢性特定疾病 Specific pediatric chronic disease 異骨性骨硬化症 Dysosteosclerosis MONDO:0009138 exactMatch http://glycosmos.org/glycogene/113189 113189 CHST14 phosphate ion binding | protein binding | N-acetylgalactosamine 4-O-sulfotransferase activity | sulfotransferase activity http://purl.obolibrary.org/obo/GO_0042301 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001537 | http://purl.obolibrary.org/obo/GO_0008146 11470797 | 35156780 | 11470797 | http://nanbyodata.jp/ontology/NANDO_2201262 NANDO:2201262 小児慢性特定疾病 Specific pediatric chronic disease デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 exactMatch http://glycosmos.org/glycogene/84668 84668 HYCC1 protein binding http://purl.obolibrary.org/obo/GO_0005515 26571211,26871637,32296183 http://nanbyodata.jp/ontology/NANDO_2201296 NANDO:2201296 小児慢性特定疾病 Specific pediatric chronic disease 先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract MONDO:0012514 exactMatch http://glycosmos.org/glycogene/80000 80000 GREB1L "" "" "" http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/80000 80000 GREB1L "" "" "" http://nanbyodata.jp/ontology/NANDO_2201462 NANDO:2201462 小児慢性特定疾病 Specific pediatric chronic disease 両側腎無発生 Bilateral renal agenesis MONDO:0015986 exactMatch http://glycosmos.org/glycogene/338 338 APOB lipase binding | cholesterol transfer activity | low-density lipoprotein particle receptor binding | phospholipid binding | protein binding | receptor ligand activity | heparin binding http://purl.obolibrary.org/obo/GO_0035473 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0008201 9685400 | 15797858 | 15797858,2563166,27477018 | 7126555 | 16203724,21911577,22580899,24447298,25108285,26224785,27138255,27487388,8245722 | 27477018 | 16233946 http://nanbyodata.jp/ontology/NANDO_2201255 NANDO:2201255 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_2201246 NANDO:2201246 小児慢性特定疾病 Specific pediatric chronic disease 小児大脳型副腎白質ジストロフィー Childhood cerebral adrenoleukodystrophy MONDO:0010247 exactMatch http://glycosmos.org/glycogene/215 215 ABCD1 acyl-CoA hydrolase activity | very long chain acyl-CoA hydrolase activity | protein homodimerization activity | ABC-type fatty-acyl-CoA transporter activity | ATP hydrolysis activity | long-chain fatty acid transporter activity | ATPase-coupled transmembrane transporter activity | enzyme binding | identical protein binding | protein binding | ATP binding | protein heterodimerization activity | ADP binding http://purl.obolibrary.org/obo/GO_0047617 | http://purl.obolibrary.org/obo/GO_0052817 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0015607 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005324 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0043531 29397936,33500543 | | 17609205,18757502,21145416 | 15682271,18757502 | 11248239,16946495,33500543 | 11500517,18757502 | 29397936,8441467 | 16781659 | 10551832 | 10551832,10777694,11883941,17609205,20531392 | 11248239,16946495 | | 16946495 http://nanbyodata.jp/ontology/NANDO_2201248 NANDO:2201248 小児慢性特定疾病 Specific pediatric chronic disease 副腎脊髄ニューロパチー Adrenomyeloneuropathy MONDO:0015339 exactMatch http://glycosmos.org/glycogene/84823 84823 LMNB2 structural constituent of cytoskeleton | identical protein binding | protein binding http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | 32296183 | 24981860,26524528,29568061,30021884,32296183,33961781,35271311 http://nanbyodata.jp/ontology/NANDO_2201447 NANDO:2201447 小児慢性特定疾病 Specific pediatric chronic disease 後天性部分性脂肪萎縮症 Acquired partial lipodystrophy MONDO:0012104 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_2201530 NANDO:2201530 小児慢性特定疾病 Specific pediatric chronic disease バレー・ジェロルド症候群 Baller-Gerold symdrome MONDO:0009039 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_2201531 NANDO:2201531 小児慢性特定疾病 Specific pediatric chronic disease ラパデリノ症候群 RAPADILINO symdrome MONDO:0009955 exactMatch http://glycosmos.org/glycogene/652 652 BMP4 protein serine/threonine kinase activator activity | co-receptor binding | heparin binding | BMP receptor binding | chemoattractant activity | growth factor activity | protein binding | cytokine activity http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0039706 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0070700 | http://purl.obolibrary.org/obo/GO_0042056 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 14749725 | 16604073 | | 7811286 | 12631064 | | 12045205,18339631,20505824,20860622,21054789,33308444,8413626,8752214 | 14749725 http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/657 657 BMPR1A transforming growth factor beta receptor activity, type II | activin receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type I | metal ion binding | protein serine/threonine kinase activity | protein homodimerization activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | ATP binding | SMAD binding | protein binding | BMP receptor activity | activin receptor activity, type I http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0016361 | | 18184661 | 9136927 | | 12065756 | 18436533 | | | 12065756 | 12065756 | 10881198,11278302,15064755,16127465,16672363,18436533,19229295,19804412,20860622,21054789,21543859,21791611,21976273,24098149,24904118,25938661,33308444 | 12065756 | http://nanbyodata.jp/ontology/NANDO_2201454 NANDO:2201454 小児慢性特定疾病 Specific pediatric chronic disease 全消化管型若年性ポリポーシス Generalized juvenile polyposis MONDO:0008276 closeMatch http://glycosmos.org/glycogene/657 657 BMPR1A transforming growth factor beta receptor activity, type II | activin receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type I | metal ion binding | protein serine/threonine kinase activity | protein homodimerization activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | ATP binding | SMAD binding | protein binding | BMP receptor activity | activin receptor activity, type I http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0016361 | | 18184661 | 9136927 | | 12065756 | 18436533 | | | 12065756 | 12065756 | 10881198,11278302,15064755,16127465,16672363,18436533,19229295,19804412,20860622,21054789,21543859,21791611,21976273,24098149,24904118,25938661,33308444 | 12065756 | http://nanbyodata.jp/ontology/NANDO_2201457 NANDO:2201457 小児慢性特定疾病 Specific pediatric chronic disease 大腸限局型若年性ポリポーシス Juvenile polyposis coli MONDO:0008276 closeMatch http://glycosmos.org/glycogene/657 657 BMPR1A transforming growth factor beta receptor activity, type II | activin receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type I | metal ion binding | protein serine/threonine kinase activity | protein homodimerization activity | transmembrane receptor protein serine/threonine kinase activity | transforming growth factor beta receptor activity, type III | ATP binding | SMAD binding | protein binding | BMP receptor activity | activin receptor activity, type I http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0004675 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0016361 | | 18184661 | 9136927 | | 12065756 | 18436533 | | | 12065756 | 12065756 | 10881198,11278302,15064755,16127465,16672363,18436533,19229295,19804412,20860622,21054789,21543859,21791611,21976273,24098149,24904118,25938661,33308444 | 12065756 | http://nanbyodata.jp/ontology/NANDO_2201458 NANDO:2201458 小児慢性特定疾病 Specific pediatric chronic disease 新生児・乳児期発症型若年性ポリポーシス Juvenile polyposis of infancy MONDO:0019190 exactMatch http://glycosmos.org/glycogene/658 658 BMPR1B ATP binding | metal ion binding | transforming growth factor beta receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type III | transforming growth factor beta receptor activity, type I | transmembrane signaling receptor activity | BMP receptor activity | SMAD binding | activin receptor activity, type II | protein binding | protein serine/threonine kinase activity | activin receptor activity, type I | transmembrane receptor protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0004675 12065756 | | | 18184661 | | | 18184661 | 12065756 | 12065756 | | 10854429,11266516,11279102,11549681,16127465,19229295,21791611,21976273,24098149,24904118,33308444 | 12065756 | | 10051328 http://nanbyodata.jp/ontology/NANDO_2201345 NANDO:2201345 小児慢性特定疾病 Specific pediatric chronic disease 軟骨無発生症2型 Achondrogenesis type 2 MONDO:0008703 closeMatch http://glycosmos.org/glycogene/658 658 BMPR1B ATP binding | metal ion binding | transforming growth factor beta receptor activity, type II | BMP binding | transforming growth factor beta receptor activity, type III | transforming growth factor beta receptor activity, type I | transmembrane signaling receptor activity | BMP receptor activity | SMAD binding | activin receptor activity, type II | protein binding | protein serine/threonine kinase activity | activin receptor activity, type I | transmembrane receptor protein serine/threonine kinase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005026 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0070123 | http://purl.obolibrary.org/obo/GO_0005025 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0098821 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0016362 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0016361 | http://purl.obolibrary.org/obo/GO_0004675 12065756 | | | 18184661 | | | 18184661 | 12065756 | 12065756 | | 10854429,11266516,11279102,11549681,16127465,19229295,21791611,21976273,24098149,24904118,33308444 | 12065756 | | 10051328 http://nanbyodata.jp/ontology/NANDO_2201346 NANDO:2201346 小児慢性特定疾病 Specific pediatric chronic disease 軟骨低発生症 Hypochondrogenesis MONDO:0008703 closeMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_2201237 NANDO:2201237 小児慢性特定疾病 Specific pediatric chronic disease 乳児型遊離シアル酸蓄積症 Infantile free sialic acid storage disease MONDO:0010027 exactMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_2201238 NANDO:2201238 小児慢性特定疾病 Specific pediatric chronic disease 中間型遊離シアル酸蓄積症 Intermediate severe Salla disease MONDO:0017737 exactMatch http://glycosmos.org/glycogene/26503 26503 SLC17A5 sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity http://purl.obolibrary.org/obo/GO_0015538 | http://purl.obolibrary.org/obo/GO_0042880 | http://purl.obolibrary.org/obo/GO_0015136 | http://purl.obolibrary.org/obo/GO_0005351 | | 10581036 | 10581036 http://nanbyodata.jp/ontology/NANDO_2201294 NANDO:2201294 小児慢性特定疾病 Specific pediatric chronic disease サラ病 Salla disease MONDO:0011449 exactMatch http://glycosmos.org/glycogene/7380 7380 UPK3A protein binding http://purl.obolibrary.org/obo/GO_0005515 25416956,32296183 http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/7390 7390 UROS folic acid binding | uroporphyrinogen-III synthase activity http://purl.obolibrary.org/obo/GO_0005542 | http://purl.obolibrary.org/obo/GO_0004852 | 18004775,3174619,3805019 http://nanbyodata.jp/ontology/NANDO_2201268 NANDO:2201268 小児慢性特定疾病 Specific pediatric chronic disease 先天性骨髄性ポルフィリン症 Congenital erythropoietic porphyria MONDO:0009902 exactMatch http://glycosmos.org/glycogene/26580 26580 BSCL2 phospholipid binding | protein binding http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515 30293840 | 16189514,25416956,30901948,30970241,31515488,31708432,32814053 http://nanbyodata.jp/ontology/NANDO_2201444 NANDO:2201444 小児慢性特定疾病 Specific pediatric chronic disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/158326 158326 FREM1 protein binding | metal ion binding | carbohydrate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030246 29688405 | | http://nanbyodata.jp/ontology/NANDO_2201305 NANDO:2201305 小児慢性特定疾病 Specific pediatric chronic disease 非症候性頭蓋骨縫合早期癒合症（前頭縫合） Non-syndromic metopic craniosynostosis MONDO:0018065 exactMatch http://glycosmos.org/glycogene/158326 158326 FREM1 protein binding | metal ion binding | carbohydrate binding http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030246 29688405 | | http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/80816 80816 ASXL3 chromatin binding | DNA binding | zinc ion binding | metal ion binding | peroxisome proliferator activated receptor binding http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042975 | | | | http://nanbyodata.jp/ontology/NANDO_2201416 NANDO:2201416 小児慢性特定疾病 Specific pediatric chronic disease バインブリッジ・ロパース症候群 Bainbridge–Ropers syndrome MONDO:0014205 exactMatch http://glycosmos.org/glycogene/55703 55703 POLR3B DNA-directed 5'-3' RNA polymerase activity | ribonucleoside binding | DNA binding | DNA/RNA hybrid binding | zinc ion binding http://purl.obolibrary.org/obo/GO_0003899 | http://purl.obolibrary.org/obo/GO_0032549 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0071667 | http://purl.obolibrary.org/obo/GO_0008270 34675218 | | | 34675218 | 34675218 http://nanbyodata.jp/ontology/NANDO_2201297 NANDO:2201297 小児慢性特定疾病 Specific pediatric chronic disease 失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination syndrome MONDO:0011897 exactMatch http://glycosmos.org/glycogene/5244 5244 ABCB4 phospholipid transporter activity | ABC-type transporter activity | ceramide floppase activity | ATP hydrolysis activity | phosphatidylcholine floppase activity | ATP binding | ATPase-coupled transmembrane transporter activity | protein binding http://purl.obolibrary.org/obo/GO_0005548 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0099038 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0090554 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0005515 | | 8898203 | | 17523162,24045840,24806754,31873305,8898203 | | 17523162,8898203 | 19674157 http://nanbyodata.jp/ontology/NANDO_2201438 NANDO:2201438 小児慢性特定疾病 Specific pediatric chronic disease 進行性家族性肝内胆汁うっ滞症3型 Progressive familial intrahepatic cholestasis type 3 MONDO:0011214 exactMatch http://glycosmos.org/glycogene/3039 3039 HBA1 peroxidase activity | G protein-coupled receptor binding | iron ion binding | oxygen binding | organic acid binding | protein binding | heme binding | oxygen carrier activity | haptoglobin binding http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0001664 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0031720 19740759 | 18077343 | | | | 10390349,10930828,11159543,11724557,12072504,1552945,15550245,15835899,16169070,23123858,25156257,25416956,28665412,29997244,30833564,32296183,37398436,6683087,9441940,9830011,9894000 | | | 19740759 http://nanbyodata.jp/ontology/NANDO_2201273 NANDO:2201273 小児慢性特定疾病 Specific pediatric chronic disease α - サラセミア α-thalassemia MONDO:0011399 exactMatch http://glycosmos.org/glycogene/3040 3040 HBA2 oxygen carrier activity | protein binding | peroxidase activity | oxygen binding | haptoglobin binding | iron ion binding | heme binding | organic acid binding | G protein-coupled receptor binding http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031720 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0001664 | 10390349,10930828,11159543,11724557,12072504,1552945,15550245,15835899,16169070,23123858,25156257,25416956,28665412,29997244,30833564,32296183,37398436,6683087,9441940,9830011,9894000 | 19740759 | | 19740759 | | | | 18077343 http://nanbyodata.jp/ontology/NANDO_2201273 NANDO:2201273 小児慢性特定疾病 Specific pediatric chronic disease α - サラセミア α-thalassemia MONDO:0011399 exactMatch http://glycosmos.org/glycogene/3043 3043 HBB haptoglobin binding | metal ion binding | heme binding | hemoglobin binding | organic acid binding | peroxidase activity | protein binding | oxygen carrier activity | oxygen binding | hemoglobin alpha binding http://purl.obolibrary.org/obo/GO_0031720 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031721 19740759 | | | 1512262 | | 19740759 | 10390349,10930828,11159543,11724557,1552945,15835899,16169070,25502805,28514442,28665412,29997244,30833564,31515488,32296183,33961781,37398436,6683087,9441940,9830011,9894000 | 11747442,1301199 | 11747442,28066926 | http://nanbyodata.jp/ontology/NANDO_2201273 NANDO:2201273 小児慢性特定疾病 Specific pediatric chronic disease α - サラセミア α-thalassemia MONDO:0011399 exactMatch http://glycosmos.org/glycogene/3043 3043 HBB haptoglobin binding | metal ion binding | heme binding | hemoglobin binding | organic acid binding | peroxidase activity | protein binding | oxygen carrier activity | oxygen binding | hemoglobin alpha binding http://purl.obolibrary.org/obo/GO_0031720 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0020037 | http://purl.obolibrary.org/obo/GO_0030492 | http://purl.obolibrary.org/obo/GO_0043177 | http://purl.obolibrary.org/obo/GO_0004601 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005344 | http://purl.obolibrary.org/obo/GO_0019825 | http://purl.obolibrary.org/obo/GO_0031721 19740759 | | | 1512262 | | 19740759 | 10390349,10930828,11159543,11724557,1552945,15835899,16169070,25502805,28514442,28665412,29997244,30833564,31515488,32296183,33961781,37398436,6683087,9441940,9830011,9894000 | 11747442,1301199 | 11747442,28066926 | http://nanbyodata.jp/ontology/NANDO_2201274 NANDO:2201274 小児慢性特定疾病 Specific pediatric chronic disease β - サラセミア β-thalassemia MONDO:0019402 exactMatch http://glycosmos.org/glycogene/3077 3077 HFE peptide antigen binding | beta-2-microglobulin binding | co-receptor binding | transferrin receptor binding | signaling receptor binding | protein binding http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0030881 | http://purl.obolibrary.org/obo/GO_0039706 | http://purl.obolibrary.org/obo/GO_1990459 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 8696333,9546397 | 9465039,9546397,9990067 | 22728873 | 18353247,22728873,9465039,9546397,9990067 | 10638746,24904118 | 14691533,15880641,15965644,20133674,20618438,33961781 http://nanbyodata.jp/ontology/NANDO_2201265 NANDO:2201265 小児慢性特定疾病 Specific pediatric chronic disease 異型ポルフィリン症 Variegate porphyria MONDO:0008297 exactMatch http://glycosmos.org/glycogene/5604 5604 MAP2K1 protein serine/threonine/tyrosine kinase activity | MAP-kinase scaffold activity | protein kinase activator activity | protein serine/threonine kinase activator activity | protein tyrosine kinase activity | protein serine kinase activity | scaffold protein binding | protein binding | protein serine/threonine kinase activity | ATP binding | protein kinase activity | JUN kinase kinase activity | MAP kinase kinase activity http://purl.obolibrary.org/obo/GO_0004712 | http://purl.obolibrary.org/obo/GO_0005078 | http://purl.obolibrary.org/obo/GO_0030295 | http://purl.obolibrary.org/obo/GO_0043539 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0106310 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004674 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004672 | http://purl.obolibrary.org/obo/GO_0008545 | http://purl.obolibrary.org/obo/GO_0004708 19565474 | 29433126 | 10644344 | 8388392 | | | 10409742 | 15299019,17110930,17255949,17724343,17979178,18329369,19197339,20179161,20554783,20679487,21441104,22572157,22752157,23241949,23934108,24211253,24746704,25155755,25416956,25437913,25600339,26496610,29433126,31980649,32296183,32707033,32721402,33961781,34779126,35271311 | | | 10570282 | | 28166211,8388392 http://nanbyodata.jp/ontology/NANDO_2201364 NANDO:2201364 小児慢性特定疾病 Specific pediatric chronic disease 流蝋骨症 Melorheostosis MONDO:0007970 exactMatch http://glycosmos.org/glycogene/415 415 ARSL metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 | 9497243 http://nanbyodata.jp/ontology/NANDO_2201356 NANDO:2201356 小児慢性特定疾病 Specific pediatric chronic disease X連鎖性劣性末節骨短縮型点状軟骨異形成症 X-linked recessive brachytelephalangic chondrodysplasia punctata MONDO:0010555 closeMatch http://glycosmos.org/glycogene/415 415 ARSL metal ion binding | arylsulfatase activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065 | 9497243 http://nanbyodata.jp/ontology/NANDO_2201360 NANDO:2201360 小児慢性特定疾病 Specific pediatric chronic disease 末節骨短縮型点状軟骨異形成症 Brachytelephalangic chondrodysplasia punctata MONDO:0010555 exactMatch http://glycosmos.org/glycogene/5256 5256 PHKA2 phosphorylase kinase activity | protein binding | calmodulin binding http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516 7549948 | 23455922,26496610,28514442,32296183,32707033,32814053,33961781,35271311 | http://nanbyodata.jp/ontology/NANDO_1201175 NANDO:1201175 指定難病 Designated intractable disease ホスホリラーゼキナーゼ欠損症 Phosphorylase kinase deficiency MONDO:0010598 exactMatch http://glycosmos.org/glycogene/5339 5339 PLEC RNA binding | cadherin binding | identical protein binding | ankyrin binding | protein binding | dystroglycan binding | actin filament binding | structural constituent of muscle | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0008307 | http://purl.obolibrary.org/obo/GO_0005200 22658674 | 25468996 | | 21223964 | 12482924,18827015,19242489,19932097,22240165,24940650,25959826,30021884,32814053,33961781,35044719 | | | 21109228,8696340 | http://nanbyodata.jp/ontology/NANDO_2201376 NANDO:2201376 小児慢性特定疾病 Specific pediatric chronic disease 筋ジストロフィー合併型表皮水疱症 Epidermolysis bullosa simplex with muscular dystrophy MONDO:0009181 exactMatch http://glycosmos.org/glycogene/5339 5339 PLEC RNA binding | cadherin binding | identical protein binding | ankyrin binding | protein binding | dystroglycan binding | actin filament binding | structural constituent of muscle | structural constituent of cytoskeleton http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0002162 | http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0008307 | http://purl.obolibrary.org/obo/GO_0005200 22658674 | 25468996 | | 21223964 | 12482924,18827015,19242489,19932097,22240165,24940650,25959826,30021884,32814053,33961781,35044719 | | | 21109228,8696340 | http://nanbyodata.jp/ontology/NANDO_2201380 NANDO:2201380 小児慢性特定疾病 Specific pediatric chronic disease 幽門閉鎖合併型表皮水疱症 Junctional epidermolysis bullosa with pyloric atresia MONDO:0009183 exactMatch http://glycosmos.org/glycogene/5351 5351 PLOD1 procollagen-lysine 5-dioxygenase activity | protein binding | L-ascorbic acid binding | iron ion binding | procollagen glucosyltransferase activity http://purl.obolibrary.org/obo/GO_0008475 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031418 | http://purl.obolibrary.org/obo/GO_0005506 | http://purl.obolibrary.org/obo/GO_0033823 10934207,8621606,9582318,9724729 | 26496610,28514442,33961781 | | | 10934207 http://nanbyodata.jp/ontology/NANDO_2201259 NANDO:2201259 小児慢性特定疾病 Specific pediatric chronic disease 後側彎型エーラス・ダンロス症候群 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO:0016002 closeMatch http://glycosmos.org/glycogene/5354 5354 PLP1 structural constituent of myelin sheath | structural molecule activity | identical protein binding | protein-containing complex binding | protein binding http://purl.obolibrary.org/obo/GO_0019911 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | 2479017 | 17962415 | | 25416956,25910212,26871637,26960425,32296183,32814053,35217805 http://nanbyodata.jp/ontology/NANDO_2201288 NANDO:2201288 小児慢性特定疾病 Specific pediatric chronic disease ペリツェウス・メルツバッハ病 Pelizaeus-Merzbacher disease MONDO:0010714 exactMatch http://glycosmos.org/glycogene/5468 5468 PPARG prostaglandin receptor activity | peptide binding | zinc ion binding | alpha-actinin binding | enzyme binding | STAT family protein binding | DNA-binding transcription repressor activity, RNA polymerase II-specific | protein binding | double-stranded DNA binding | nucleic acid binding | arachidonic acid binding | WW domain binding | DNA-binding transcription factor binding | nuclear receptor activity | nuclear retinoid X receptor binding | DNA binding | DNA-binding transcription factor activity | sequence-specific DNA binding | LBD domain binding | R-SMAD binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding domain binding | identical protein binding | chromatin binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | transcription coregulator binding | E-box binding | transcription cis-regulatory region binding http://purl.obolibrary.org/obo/GO_0004955 | http://purl.obolibrary.org/obo/GO_0042277 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0051393 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0097677 | http://purl.obolibrary.org/obo/GO_0001227 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003690 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0050544 | http://purl.obolibrary.org/obo/GO_0050699 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0046965 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0050693 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0050692 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0001221 | http://purl.obolibrary.org/obo/GO_0070888 | http://purl.obolibrary.org/obo/GO_0000976 9568715 | 19043829 | 19043829 | 22351778 | 12039952 | 28467929 | | 12040021,12522104,14701856,15722453,16239304,17500595,19043829,19047629,19846556,20195357,20211142,20660480,21478865,21775429,22078880,22351778,25609649,32296183,32814053,35140242 | 19043829 | 19043829 | 9568715 | 22292086 | 10622252 | 10622252,12955147,16239304,18293083 | 19043829,9568715 | 18382765 | 9568715 | 9568716 | 19043829 | 31023188 | 25704091 | 19043829 | 17937915,25609649 | | 25704091 | | 14701856 | | 18293083 http://nanbyodata.jp/ontology/NANDO_2201444 NANDO:2201444 小児慢性特定疾病 Specific pediatric chronic disease 先天性全身性脂肪萎縮症 Generalized congenital lipodystrophy MONDO:0018883 exactMatch http://glycosmos.org/glycogene/5538 5538 PPT1 long-chain acyl-CoA hydrolase activity | lysophosphatidic acid binding | protein binding | sulfatide binding | palmitoyl-(protein) hydrolase activity http://purl.obolibrary.org/obo/GO_0052816 | http://purl.obolibrary.org/obo/GO_0035727 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120146 | http://purl.obolibrary.org/obo/GO_0008474 10658183 | 18317235 | 17237713,19941651,25544563,32814053 | 18317235 | 10658183,10737604,7637805 http://nanbyodata.jp/ontology/NANDO_2201241 NANDO:2201241 小児慢性特定疾病 Specific pediatric chronic disease 乳児型神経セロイドリポフスチン症 Infantile neuronal ceroid lipofuscinosis MONDO:0009744 closeMatch http://glycosmos.org/glycogene/5551 5551 PRF1 pore-forming activity | protein binding | identical protein binding | wide pore channel activity | calcium ion binding http://purl.obolibrary.org/obo/GO_0140911 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0022829 | http://purl.obolibrary.org/obo/GO_0005509 | 11911826,25416956,32296183 | 21037563,21685908 | 20038786,20889983,24558045 | http://nanbyodata.jp/ontology/NANDO_2201276 NANDO:2201276 小児慢性特定疾病 Specific pediatric chronic disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/5660 5660 PSAP ganglioside GP1c binding | identical protein binding | ganglioside GT1b binding | enzyme activator activity | scaffold protein binding | protein binding | ganglioside GM3 binding | ganglioside GM2 binding | protein homodimerization activity | phospholipid binding | ganglioside GM1 binding | protease binding http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905575 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020 1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419 http://nanbyodata.jp/ontology/NANDO_2201216 NANDO:2201216 小児慢性特定疾病 Specific pediatric chronic disease 乳児型クラッベ病 Infantile Krabbe disease MONDO:0016089 exactMatch http://glycosmos.org/glycogene/5728 5728 PTEN lipid binding | RNA polymerase II CTD heptapeptide repeat S5 phosphatase activity | molecular function inhibitor activity | RNA polymerase II CTD heptapeptide repeat S2 phosphatase activity | calmodulin-dependent protein phosphatase activity | ubiquitin ligase activator activity | RNA polymerase II CTD heptapeptide repeat S7 phosphatase activity | phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity | myosin phosphatase activity | protein tyrosine phosphatase activity, metal-dependent | MAP kinase serine/threonine phosphatase activity | ubiquitin-specific protease binding | phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity | beta-catenin binding | phosphatidylinositol-3-phosphate phosphatase activity | protein serine/threonine phosphatase activity | histone H2AXY142 phosphatase activity | enzyme binding | identical protein binding | phosphatidylinositol phosphate phosphatase activity | inositol-1,3,4,5,6-pentakisphosphate 3-phosphatase activity | non-membrane spanning protein tyrosine phosphatase activity | PDZ domain binding | protein binding | RNA polymerase II CTD heptapeptide repeat T4 phosphatase activity | histone H2AXS140 phosphatase activity | RNA polymerase II CTD heptapeptide repeat Y1 phosphatase activity | inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity | phosphoprotein phosphatase activity | protein tyrosine phosphatase activity | anaphase-promoting complex binding http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0180007 | http://purl.obolibrary.org/obo/GO_0140678 | http://purl.obolibrary.org/obo/GO_0180006 | http://purl.obolibrary.org/obo/GO_0033192 | http://purl.obolibrary.org/obo/GO_1990757 | http://purl.obolibrary.org/obo/GO_0180008 | http://purl.obolibrary.org/obo/GO_0016314 | http://purl.obolibrary.org/obo/GO_0017018 | http://purl.obolibrary.org/obo/GO_0030946 | http://purl.obolibrary.org/obo/GO_1990439 | http://purl.obolibrary.org/obo/GO_1990381 | http://purl.obolibrary.org/obo/GO_0051800 | http://purl.obolibrary.org/obo/GO_0008013 | http://purl.obolibrary.org/obo/GO_0004438 | http://purl.obolibrary.org/obo/GO_0004722 | http://purl.obolibrary.org/obo/GO_0140793 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0052866 | http://purl.obolibrary.org/obo/GO_0030351 | http://purl.obolibrary.org/obo/GO_0004726 | http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0180005 | http://purl.obolibrary.org/obo/GO_0140791 | http://purl.obolibrary.org/obo/GO_0180004 | http://purl.obolibrary.org/obo/GO_0051717 | http://purl.obolibrary.org/obo/GO_0004721 | http://purl.obolibrary.org/obo/GO_0004725 | http://purl.obolibrary.org/obo/GO_0010997 | | 23744781 | | | 21241890 | | 9593664,9811831 | | | | 26280536 | 20123964,9811831 | 20123964 | 9811831 | 9256433 | | 16845383 | 24766807,26299948 | 9811831 | 11418101 | | 10646847,10760291 | 15355975,15951562,16456542,17242191,17274640,18716620,19345329,19369943,19473982,19903340,21241890,21593423,21653829,21804599,23514585,23940795,24012959,24656772,25007873,25241761,26280536,36950384 | | | | 9593664 | 21241890 | 9256433 | 21241890 http://nanbyodata.jp/ontology/NANDO_2201458 NANDO:2201458 小児慢性特定疾病 Specific pediatric chronic disease 新生児・乳児期発症型若年性ポリポーシス Juvenile polyposis of infancy MONDO:0019190 exactMatch http://glycosmos.org/glycogene/5972 5972 REN insulin-like growth factor receptor binding | protein binding | aspartic-type endopeptidase activity | peptidase activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0005159 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004190 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0005102 | 20927107 | 12045255,20927107,4289389,4322712,4330891,4360430 | 12045255 | 12045255 http://nanbyodata.jp/ontology/NANDO_2201389 NANDO:2201389 小児慢性特定疾病 Specific pediatric chronic disease ADTKD-REN ADTKD-REN MONDO:0013128 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201462 NANDO:2201462 小児慢性特定疾病 Specific pediatric chronic disease 両側腎無発生 Bilateral renal agenesis MONDO:0015986 exactMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201463 NANDO:2201463 小児慢性特定疾病 Specific pediatric chronic disease 直腸下部型ヒルシュスプルング病 Short-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201464 NANDO:2201464 小児慢性特定疾病 Specific pediatric chronic disease S状結腸型ヒルシュスプルング病 Rectosigmoid Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201465 NANDO:2201465 小児慢性特定疾病 Specific pediatric chronic disease 左右結腸型ヒルシュスプルング病 Long-segment Hirschsprung's disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201466 NANDO:2201466 小児慢性特定疾病 Specific pediatric chronic disease 全結腸型ヒルシュスプルング病 Entire colon Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/5979 5979 RET GPI-linked ephrin receptor activity | vascular endothelial growth factor receptor activity | boss receptor activity | platelet-derived growth factor beta-receptor activity | protein tyrosine kinase activity | protein binding | stem cell factor receptor activity | calcium ion binding | insulin-like growth factor receptor activity | transmembrane receptor protein tyrosine kinase activity | ATP binding | insulin receptor activity | signaling receptor activity | brain-derived neurotrophic factor receptor activity | protein tyrosine kinase collagen receptor activity | platelet-derived growth factor alpha-receptor activity | fibroblast growth factor receptor activity | macrophage colony-stimulating factor receptor activity | epidermal growth factor receptor activity | transmembrane-ephrin receptor activity | hepatocyte growth factor receptor activity | placental growth factor receptor activity http://purl.obolibrary.org/obo/GO_0005004 | http://purl.obolibrary.org/obo/GO_0005021 | http://purl.obolibrary.org/obo/GO_0008288 | http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005020 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005010 | http://purl.obolibrary.org/obo/GO_0004714 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005009 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0060175 | http://purl.obolibrary.org/obo/GO_0038062 | http://purl.obolibrary.org/obo/GO_0005018 | http://purl.obolibrary.org/obo/GO_0005007 | http://purl.obolibrary.org/obo/GO_0005011 | http://purl.obolibrary.org/obo/GO_0005006 | http://purl.obolibrary.org/obo/GO_0005005 | http://purl.obolibrary.org/obo/GO_0005008 | http://purl.obolibrary.org/obo/GO_0036332 | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | http://nanbyodata.jp/ontology/NANDO_2201467 NANDO:2201467 小児慢性特定疾病 Specific pediatric chronic disease 小腸型ヒルシュスプルング病 Extensive aganglionosis Hirschsprung disease MONDO:0018309 closeMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_2201512 NANDO:2201512 小児慢性特定疾病 Specific pediatric chronic disease 先天性パラミオトニー Paramyotonia congenita MONDO:0008195 exactMatch http://glycosmos.org/glycogene/6329 6329 SCN4A protein binding | voltage-gated sodium channel activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248 30190309 | 12766226,30190309 http://nanbyodata.jp/ontology/NANDO_2201513 NANDO:2201513 小児慢性特定疾病 Specific pediatric chronic disease ナトリウムチャネルミオトニー Sodium channel myotonia MONDO:0018959 exactMatch http://glycosmos.org/glycogene/6424 6424 SFRP4 Wnt-protein binding | protein binding http://purl.obolibrary.org/obo/GO_0017147 | http://purl.obolibrary.org/obo/GO_0005515 17462603,24431302 | 15607035,32296183,32814053 http://nanbyodata.jp/ontology/NANDO_2201367 NANDO:2201367 小児慢性特定疾病 Specific pediatric chronic disease 骨幹端異形成症 Metaphyseal dysplasias MONDO:0009943 exactMatch http://glycosmos.org/glycogene/6535 6535 SLC6A8 creatine:sodium symporter activity | creatine transmembrane transporter activity | gamma-aminobutyric acid:sodium:chloride symporter activity http://purl.obolibrary.org/obo/GO_0005309 | http://purl.obolibrary.org/obo/GO_0005308 | http://purl.obolibrary.org/obo/GO_0005332 17465020,22644605,25861866,7945388,7953292,9882430 | 8661037 | http://nanbyodata.jp/ontology/NANDO_2201301 NANDO:2201301 小児慢性特定疾病 Specific pediatric chronic disease SLC6A8欠損症 SLC6A8 deficiency MONDO:0010305 exactMatch http://glycosmos.org/glycogene/8243 8243 SMC1A chromatin binding | ATP hydrolysis activity | protein binding | protein heterodimerization activity | mediator complex binding | DNA binding | ATP binding | RNA binding http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0036033 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0003723 11076961 | | 11076961,11590136,11877377,12930902,15837422,16438930,17112726,17113138,17349791,18832153,19629043,20818333,22628566,22885700,22977523,23242214,24136289,24981860,26496610,28514442,29263825,29867216,30021884,32296183,33961781,35271311,9789013 | 11590136 | | | | 22681889 http://nanbyodata.jp/ontology/NANDO_2201417 NANDO:2201417 小児慢性特定疾病 Specific pediatric chronic disease ヴィーデマン・スタイナー症候群 Wiedemann-Steiner syndrome MONDO:0011518 exactMatch http://glycosmos.org/glycogene/8792 8792 TNFRSF11A metal ion binding | transmembrane signaling receptor activity | signaling receptor activity | cytokine binding | protein binding | tumor necrosis factor receptor activity http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0038023 | http://purl.obolibrary.org/obo/GO_0019955 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005031 | 9367155 | 9367155 | 9367155 | 10075662,15750601,23333834,29844572 | 19940926 http://nanbyodata.jp/ontology/NANDO_2201365 NANDO:2201365 小児慢性特定疾病 Specific pediatric chronic disease 異骨性骨硬化症 Dysosteosclerosis MONDO:0009138 exactMatch http://glycosmos.org/glycogene/64240 64240 ABCG5 ATP hydrolysis activity | protein heterodimerization activity | metal ion binding | ATP binding | ABC-type transporter activity | protein binding | cholesterol transfer activity | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042626 16893193 | 16870176 | | 16893193 | | 16870176,17474147,27144356 | 14504269 | 27144356 http://nanbyodata.jp/ontology/NANDO_2201255 NANDO:2201255 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/64241 64241 ABCG8 cholesterol transfer activity | ATP hydrolysis activity | ABC-type transporter activity | protein binding | ATP binding | protein heterodimerization activity | metal ion binding | ATPase-coupled transmembrane transporter activity http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042626 14504269 | 16893193 | | 16870176,27144356,32296183 | 16893193 | 16870176 | | 27144356 http://nanbyodata.jp/ontology/NANDO_2201255 NANDO:2201255 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/255738 255738 PCSK9 signaling receptor inhibitor activity | apolipoprotein receptor binding | apolipoprotein binding | very-low-density lipoprotein particle binding | serine-type endopeptidase activity | low-density lipoprotein particle binding | protein binding | sodium channel inhibitor activity | very-low-density lipoprotein particle receptor binding | low-density lipoprotein particle receptor binding | RNA binding http://purl.obolibrary.org/obo/GO_0030547 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0034189 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0030169 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019871 | http://purl.obolibrary.org/obo/GO_0070326 | http://purl.obolibrary.org/obo/GO_0050750 | http://purl.obolibrary.org/obo/GO_0003723 22848640 | 18039658 | | | 12552133 | | 17461796,18250299,18753623,18799458,22081141,22493497,22580899,22848640,25613181 | 22493497 | 18039658 | 17080197,17452316,22081141,22848640 | 22658674 http://nanbyodata.jp/ontology/NANDO_2201255 NANDO:2201255 小児慢性特定疾病 Specific pediatric chronic disease 家族性高コレステロール血症ホモ接合体 Homozygous familial hypercholesterolemia MONDO:0018328 exactMatch http://glycosmos.org/glycogene/29940 29940 DSE chondroitin-glucuronate 5-epimerase activity | metal ion binding http://purl.obolibrary.org/obo/GO_0047757 | http://purl.obolibrary.org/obo/GO_0046872 16505484 | http://nanbyodata.jp/ontology/NANDO_2201262 NANDO:2201262 小児慢性特定疾病 Specific pediatric chronic disease デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群 Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome MONDO:0011142 exactMatch http://glycosmos.org/glycogene/341640 341640 FREM2 metal ion binding | protein binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | 29688405 http://nanbyodata.jp/ontology/NANDO_2201461 NANDO:2201461 小児慢性特定疾病 Specific pediatric chronic disease 一側腎無形成 Unilateral renal agenesis MONDO:0019636 exactMatch http://glycosmos.org/glycogene/200942 200942 KLHDC8B "" "" "" http://nanbyodata.jp/ontology/NANDO_2201476 NANDO:2201476 小児慢性特定疾病 Specific pediatric chronic disease 古典的ホジキンリンパ腫 Classical Hodgkin's lymphoma MONDO:0009348 exactMatch http://glycosmos.org/glycogene/8647 8647 ABCB11 carbohydrate transmembrane transporter activity | canalicular bile acid transmembrane transporter activity | ATP binding | protein binding | ATP hydrolysis activity | bile acid transmembrane transporter activity | ABC-type xenobiotic transporter activity | ABC-type bile acid transporter activity http://purl.obolibrary.org/obo/GO_0015144 | http://purl.obolibrary.org/obo/GO_0015126 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015125 | http://purl.obolibrary.org/obo/GO_0008559 | http://purl.obolibrary.org/obo/GO_0015432 | 22262466,24711118,32203132 | | 22262466,32296183 | | 20010382,20398791,29507376 | 18245269 | 15791618,15901796,18985798,32203132 http://nanbyodata.jp/ontology/NANDO_2201437 NANDO:2201437 小児慢性特定疾病 Specific pediatric chronic disease 進行性家族性肝内胆汁うっ滞症2型 Progressive familial intrahepatic cholestasis type 2 MONDO:0011156 exactMatch http://glycosmos.org/glycogene/8200 8200 GDF5 identical protein binding | growth factor activity | BMP binding | protein binding | cytokine activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 25174448 | | 21976273 | 16127465,18339631,18586671,19229295,21543859,21976273,24098149 | http://nanbyodata.jp/ontology/NANDO_2201345 NANDO:2201345 小児慢性特定疾病 Specific pediatric chronic disease 軟骨無発生症2型 Achondrogenesis type 2 MONDO:0008703 closeMatch http://glycosmos.org/glycogene/8200 8200 GDF5 identical protein binding | growth factor activity | BMP binding | protein binding | cytokine activity http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008083 | http://purl.obolibrary.org/obo/GO_0036122 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005125 25174448 | | 21976273 | 16127465,18339631,18586671,19229295,21543859,21976273,24098149 | http://nanbyodata.jp/ontology/NANDO_2201346 NANDO:2201346 小児慢性特定疾病 Specific pediatric chronic disease 軟骨低発生症 Hypochondrogenesis MONDO:0008703 closeMatch http://glycosmos.org/glycogene/8516 8516 ITGA8 metal ion binding | integrin binding http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005178 | http://nanbyodata.jp/ontology/NANDO_2201462 NANDO:2201462 小児慢性特定疾病 Specific pediatric chronic disease 両側腎無発生 Bilateral renal agenesis MONDO:0015986 exactMatch http://glycosmos.org/glycogene/4038 4038 LRP4 scaffold protein binding | protein homodimerization activity | receptor tyrosine kinase binding | protein binding | calcium ion binding | apolipoprotein binding | coreceptor activity http://purl.obolibrary.org/obo/GO_0097110 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0030971 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0015026 | | | 21471202,28514442,33961781 | | | http://nanbyodata.jp/ontology/NANDO_2201369 NANDO:2201369 小児慢性特定疾病 Specific pediatric chronic disease 硬化性骨症 Sclerosteosis MONDO:0017838 exactMatch http://glycosmos.org/glycogene/4089 4089 SMAD4 DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein binding | transcription cis-regulatory region binding | transcription coactivator binding | DNA-binding transcription factor activity | sulfate binding | DNA-binding transcription activator activity, RNA polymerase II-specific | collagen binding | R-SMAD binding | DNA binding | sequence-specific DNA binding | I-SMAD binding | filamin binding | transcription corepressor binding | chromatin binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0031005 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | 8774881 | | 10647180,21988832,25609649,9111321 | 17438144 | 16777850 | 10823886,17438144 | 10647180 | 18832382,9389648 | | 8774881,9111321,9311995,9732876 | 9389648 | 10823886 | 9256479 | | 14612439 | | | 11278302,11779503,11779505,12419246,14525983,14671321,15084259,15231748,15350224,15881652,16189514,16865698,17099224,17183365,17469184,18511908,18568018,18729074,18832382,19032343,19135894,20211142,20603019,21297662,21532621,21597466,21988832,22045334,22442258,23201680,23602568,24412244,25310401,25416956,25502805,25514493,25609649,25910212,26878725,26977879,27107012,29892012,29997244,31467278,31515488,32296183,32814053,33961781,39243984,9389648,9436979,9707553 | 18832382,31582430,9389648 http://nanbyodata.jp/ontology/NANDO_2201454 NANDO:2201454 小児慢性特定疾病 Specific pediatric chronic disease 全消化管型若年性ポリポーシス Generalized juvenile polyposis MONDO:0008276 closeMatch http://glycosmos.org/glycogene/4089 4089 SMAD4 DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein binding | transcription cis-regulatory region binding | transcription coactivator binding | DNA-binding transcription factor activity | sulfate binding | DNA-binding transcription activator activity, RNA polymerase II-specific | collagen binding | R-SMAD binding | DNA binding | sequence-specific DNA binding | I-SMAD binding | filamin binding | transcription corepressor binding | chromatin binding | RNA polymerase II-specific DNA-binding transcription factor binding | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0001223 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0043199 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005518 | http://purl.obolibrary.org/obo/GO_0070412 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0070411 | http://purl.obolibrary.org/obo/GO_0031005 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0000978 | 8774881 | | 10647180,21988832,25609649,9111321 | 17438144 | 16777850 | 10823886,17438144 | 10647180 | 18832382,9389648 | | 8774881,9111321,9311995,9732876 | 9389648 | 10823886 | 9256479 | | 14612439 | | | 11278302,11779503,11779505,12419246,14525983,14671321,15084259,15231748,15350224,15881652,16189514,16865698,17099224,17183365,17469184,18511908,18568018,18729074,18832382,19032343,19135894,20211142,20603019,21297662,21532621,21597466,21988832,22045334,22442258,23201680,23602568,24412244,25310401,25416956,25502805,25514493,25609649,25910212,26878725,26977879,27107012,29892012,29997244,31467278,31515488,32296183,32814053,33961781,39243984,9389648,9436979,9707553 | 18832382,31582430,9389648 http://nanbyodata.jp/ontology/NANDO_2201457 NANDO:2201457 小児慢性特定疾病 Specific pediatric chronic disease 大腸限局型若年性ポリポーシス Juvenile polyposis coli MONDO:0008276 closeMatch http://glycosmos.org/glycogene/3329 3329 HSPD1 lipopolysaccharide binding | isomerase activity | DNA replication origin binding | double-stranded RNA binding | unfolded protein binding | protein binding | ATP hydrolysis activity | high-density lipoprotein particle binding | ATP binding | ATP-dependent protein folding chaperone | protein-folding chaperone binding | cysteine-type endopeptidase activator activity | ubiquitin protein ligase binding | apolipoprotein A-I binding | enzyme binding | RNA binding | apolipoprotein binding | single-stranded DNA binding | p53 binding http://purl.obolibrary.org/obo/GO_0001530 | http://purl.obolibrary.org/obo/GO_0016853 | http://purl.obolibrary.org/obo/GO_0003688 | http://purl.obolibrary.org/obo/GO_0003725 | http://purl.obolibrary.org/obo/GO_0051082 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0140662 | http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0140608 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0034186 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0034185 | http://purl.obolibrary.org/obo/GO_0003697 | http://purl.obolibrary.org/obo/GO_0002039 17164250 | | | 21266579 | 11050098 | 15846844,17110338,17823127,18086682,21516116,21988832,22664726,23349634,23840630,24286120,25416956,25609649,25910212,26618866,26871637,28514442,29568061,29924966,30021884,31515488,32296183,32814053,33961781,35156780,36012204 | | 11027668 | | | 10205158 | 17823127 | 19725078,21753002 | 11027668 | 20507888 | 22658674 | 11027668 | | 18086682 http://nanbyodata.jp/ontology/NANDO_2201293 NANDO:2201293 小児慢性特定疾病 Specific pediatric chronic disease Hsp60シャペロン病 Mitochondrial Hsp60 chaperonopathy MONDO:0012824 exactMatch http://glycosmos.org/glycogene/3458 3458 IFNG type II interferon receptor binding | cytokine activity | protein binding http://purl.obolibrary.org/obo/GO_0005133 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515 | 16914093,26227742 | 11250200,18252829,28514442,33961781,7617032 http://nanbyodata.jp/ontology/NANDO_2201276 NANDO:2201276 小児慢性特定疾病 Specific pediatric chronic disease 特発性再生不良性貧血 Idiopathic aplastic anemia MONDO:0012197 exactMatch http://glycosmos.org/glycogene/501 501 ALDH7A1 protein binding | L-aminoadipate-semialdehyde dehydrogenase activity | identical protein binding | aldehyde dehydrogenase (NAD+) activity | betaine-aldehyde dehydrogenase activity http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004043 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004029 | http://purl.obolibrary.org/obo/GO_0008802 21988832,32296183 | | 20207735,32296183 | 20207735,21338592 | 20207735 http://nanbyodata.jp/ontology/NANDO_2201410 NANDO:2201410 小児慢性特定疾病 Specific pediatric chronic disease ピリドキシン依存性てんかん Pyridoxine-dependent seizures MONDO:0020741 exactMatch http://glycosmos.org/glycogene/1497 1497 CTNS L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295 11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465 http://nanbyodata.jp/ontology/NANDO_2201234 NANDO:2201234 小児慢性特定疾病 Specific pediatric chronic disease 腎型シスチン症 Nephropathic cystinosis MONDO:0100151 exactMatch http://glycosmos.org/glycogene/3630 3630 INS insulin receptor binding | protein binding | hormone activity | identical protein binding | protease binding | insulin-like growth factor receptor binding http://purl.obolibrary.org/obo/GO_0005158 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005179 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0002020 | http://purl.obolibrary.org/obo/GO_0005159 7556975,8452530,9667398 | 17051221,23302862,29512653,29764935,32296183,9388210,9773776 | 14986111,381941,9667398 | 17472440,20738396,22854022,23106816,23416304,23510797 | 20082125 | 8452530 http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/3651 3651 PDX1 DNA-binding transcription factor activity, RNA polymerase II-specific | promoter-specific chromatin binding | DNA-binding transcription factor activity | sequence-specific double-stranded DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | protein-containing complex binding http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0044877 | | 17941991 | 28473536 | | http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/3767 3767 KCNJ11 ATP-activated inward rectifier potassium channel activity | potassium ion binding | ankyrin binding | transmembrane transporter binding | ATP binding | ATPase-coupled monoatomic cation transmembrane transporter activity | protein binding | heat shock protein binding | voltage-gated potassium channel activity | voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0030955 | http://purl.obolibrary.org/obo/GO_0030506 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0005249 | http://purl.obolibrary.org/obo/GO_0099508 28842488 | 8923010 | 20610380 | 20610380 | 12860923 | | 19805355,32296183 | | 19805355 | 18945825 http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/3762 3762 KCNJ5 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | inward rectifier potassium channel activity | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | G-protein activated inward rectifier potassium channel activity | protein binding http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0005242 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015467 | http://purl.obolibrary.org/obo/GO_0005515 20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183 http://nanbyodata.jp/ontology/NANDO_2201516 NANDO:2201516 小児慢性特定疾病 Specific pediatric chronic disease Andersen-Tawil症候群 Andersen-Tawil syndrome MONDO:0008222 exactMatch http://glycosmos.org/glycogene/3762 3762 KCNJ5 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization | inward rectifier potassium channel activity | voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization | G-protein activated inward rectifier potassium channel activity | protein binding http://purl.obolibrary.org/obo/GO_1902282 | http://purl.obolibrary.org/obo/GO_0005242 | http://purl.obolibrary.org/obo/GO_0086089 | http://purl.obolibrary.org/obo/GO_0015467 | http://purl.obolibrary.org/obo/GO_0005515 20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183 http://nanbyodata.jp/ontology/NANDO_1201117 NANDO:1201117 指定難病 Designated intractable disease Andersen-Tawil症候群 Andersen-Tawil syndrome MONDO:0008222 exactMatch http://glycosmos.org/glycogene/6774 6774 STAT3 protein dimerization activity | RNA sequestering activity | nuclear receptor activity | protein kinase binding | transcription cis-regulatory region binding | protein binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity | protein homodimerization activity | RNA binding | protein sequestering activity | lncRNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | chromatin DNA binding | identical protein binding | primary miRNA binding | protein phosphatase binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription factor binding | signaling adaptor activity | signaling receptor binding http://purl.obolibrary.org/obo/GO_0046983 | http://purl.obolibrary.org/obo/GO_0140610 | http://purl.obolibrary.org/obo/GO_0004879 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0000976 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0140311 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0031490 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0070878 | http://purl.obolibrary.org/obo/GO_0019903 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140297 | http://purl.obolibrary.org/obo/GO_0035591 | http://purl.obolibrary.org/obo/GO_0005102 | 31507089 | 17324931 | | 17324931 | 10688651,11536047,11585385,11940572,11970898,12867595,14966128,15286705,15657067,15764709,15821101,15998644,16273093,16306601,16331268,16364321,16531398,16568091,18200042,18234692,18330356,19345327,19372587,20133729,20826784,20871632,20876300,20929579,21184768,21516116,21643014,21953450,21988832,23416296,23684459,24135280,24172987,24189400,24396070,24658140,25065853,25241761,25402766,25416956,25476455,25609649,25814554,26966684,28065600,29892012,30413785,31515488,31899195,31980649,32296183,32814053,32852592,32911434,33961781,35140242,38844957,8662591,9864141 | 22783022,24429361,28467929 | 15653507,16285960,17344214,18782771,28781374,7543512,7568001,9535918 | 15653507 | 31507089 | | 24744378 | 17344214,32929201,38404237 | 17344214 | 17676033,21988832,25609649,7510216 | 31507089 | 12359225,17360477 | 16835372,16946298,31886314 | | 19390056 | 15664994 | 31145836 | 31145836 http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/64682 64682 ANAPC1 molecular adaptor activity http://purl.obolibrary.org/obo/GO_0060090 "" http://nanbyodata.jp/ontology/NANDO_2201528 NANDO:2201528 小児慢性特定疾病 Specific pediatric chronic disease ロスムンド・トムソン症候群 type1 Rothmund-Thomson syndrome type1 MONDO:0016368 exactMatch http://glycosmos.org/glycogene/2645 2645 GCK mannokinase activity | glucose binding | glucokinase activity | glucose sensor activity | ATP binding | fructokinase activity | protein binding http://purl.obolibrary.org/obo/GO_0019158 | http://purl.obolibrary.org/obo/GO_0005536 | http://purl.obolibrary.org/obo/GO_0004340 | http://purl.obolibrary.org/obo/GO_0141089 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0008865 | http://purl.obolibrary.org/obo/GO_0005515 | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183 http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/6833 6833 ABCC8 ATPase-coupled monoatomic cation transmembrane transporter activity | metal ion binding | potassium channel activity | ATPase-coupled transmembrane transporter activity | ATP hydrolysis activity | ATP-activated inward rectifier potassium channel activity | ATP binding | ADP binding | ABC-type transporter activity | sulfonylurea receptor activity | transmembrane transporter binding | protein binding http://purl.obolibrary.org/obo/GO_0019829 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005267 | http://purl.obolibrary.org/obo/GO_0042626 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0015272 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0043531 | http://purl.obolibrary.org/obo/GO_0140359 | http://purl.obolibrary.org/obo/GO_0008281 | http://purl.obolibrary.org/obo/GO_0044325 | http://purl.obolibrary.org/obo/GO_0005515 26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355 http://nanbyodata.jp/ontology/NANDO_2201435 NANDO:2201435 小児慢性特定疾病 Specific pediatric chronic disease 永続性新生児糖尿病 Permanent neonatal diabetes mellitus MONDO:0100164 exactMatch http://glycosmos.org/glycogene/336 336 APOA2 heat shock protein binding | high-density lipoprotein particle binding | protein heterodimerization activity | receptor ligand activity | phospholipid binding | lipid binding | lipid transporter activity | phosphatidylcholine binding | lipase inhibitor activity | apolipoprotein receptor binding | high-density lipoprotein particle receptor binding | phosphatidylcholine-sterol O-acyltransferase activator activity | signaling receptor binding | cholesterol binding | cholesterol transfer activity | protein homodimerization activity | protein binding | enzyme binding http://purl.obolibrary.org/obo/GO_0031072 | http://purl.obolibrary.org/obo/GO_0008035 | http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048018 | http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0005319 | http://purl.obolibrary.org/obo/GO_0031210 | http://purl.obolibrary.org/obo/GO_0055102 | http://purl.obolibrary.org/obo/GO_0034190 | http://purl.obolibrary.org/obo/GO_0070653 | http://purl.obolibrary.org/obo/GO_0060228 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0015485 | http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019899 11027668 | | 7918467,8245722 | 27477018 | 218942 | 14967812 | 1606170 | 17264082 | 14967812 | 11162594 | 10764676 | 14967812 | 27477018 | 218942 | 9651324 | 17264082 | 11991719,14967812,17786215,25416956,29892012,32296183 | 14967812 http://nanbyodata.jp/ontology/NANDO_1201125 NANDO:1201125 指定難病 Designated intractable disease 遺伝性アポリポ蛋白 A-II アミロイドーシス Hereditary apolipoprotein A-II amyloidosis MONDO:0016533 exactMatch http://glycosmos.org/glycogene/9401 9401 RECQL4 ATP binding | helicase activity | ATP-dependent H3-H4 histone complex chaperone activity | ATP hydrolysis activity | double-stranded DNA helicase activity | ATP-dependent H2AZ histone chaperone activity | DNA clamp loader activity | telomeric D-loop binding | four-way junction helicase activity | forked DNA-dependent helicase activity | protein binding | metal ion binding | cohesin loader activity | DNA/DNA annealing activity | oxidized purine DNA binding | 3'-5' DNA helicase activity | chromatin extrusion motor activity | bubble DNA binding | isomerase activity http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0004386 | http://purl.obolibrary.org/obo/GO_0140665 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0036121 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0003689 | http://purl.obolibrary.org/obo/GO_0061821 | http://purl.obolibrary.org/obo/GO_0009378 | http://purl.obolibrary.org/obo/GO_0061749 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0061775 | http://purl.obolibrary.org/obo/GO_1990814 | http://purl.obolibrary.org/obo/GO_0032357 | http://purl.obolibrary.org/obo/GO_0043138 | http://purl.obolibrary.org/obo/GO_0140584 | http://purl.obolibrary.org/obo/GO_0000405 | http://purl.obolibrary.org/obo/GO_0016853 | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | http://nanbyodata.jp/ontology/NANDO_2201529 NANDO:2201529 小児慢性特定疾病 Specific pediatric chronic disease ロスムンド・トムソン症候群 type2 Rothmund-Thomson syndrome type2 MONDO:0016369 exactMatch http://glycosmos.org/glycogene/8398 8398 PLA2G6 identical protein binding | calcium-independent phospholipase A2 activity | serine hydrolase activity | 1-alkyl-2-acetylglycerophosphocholine esterase activity | lysophospholipase activity | calmodulin binding | hydrolase activity | phospholipase A2 activity | long-chain acyl-CoA hydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0047499 | http://purl.obolibrary.org/obo/GO_0017171 | http://purl.obolibrary.org/obo/GO_0003847 | http://purl.obolibrary.org/obo/GO_0004622 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0004623 | http://purl.obolibrary.org/obo/GO_0052816 | http://purl.obolibrary.org/obo/GO_0005515 32296183 | 15908428,20886109,23533611 | | | 20886109 | | | 9417066 | 20886109 | 32296183 http://nanbyodata.jp/ontology/NANDO_1201155 NANDO:1201155 指定難病 Designated intractable disease 脳内鉄沈着神経変性症2A型 Neurodegeneration with brain iron accumulation type2A MONDO:0024457 exactMatch http://glycosmos.org/glycogene/8398 8398 PLA2G6 identical protein binding | calcium-independent phospholipase A2 activity | serine hydrolase activity | 1-alkyl-2-acetylglycerophosphocholine esterase activity | lysophospholipase activity | calmodulin binding | hydrolase activity | phospholipase A2 activity | long-chain acyl-CoA hydrolase activity | protein binding http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0047499 | http://purl.obolibrary.org/obo/GO_0017171 | http://purl.obolibrary.org/obo/GO_0003847 | http://purl.obolibrary.org/obo/GO_0004622 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0016787 | http://purl.obolibrary.org/obo/GO_0004623 | http://purl.obolibrary.org/obo/GO_0052816 | http://purl.obolibrary.org/obo/GO_0005515 32296183 | 15908428,20886109,23533611 | | | 20886109 | | | 9417066 | 20886109 | 32296183 http://nanbyodata.jp/ontology/NANDO_1201156 NANDO:1201156 指定難病 Designated intractable disease 脳内鉄沈着神経変性症2B型 Neurodegeneration with brain iron accumulation type2B MONDO:0012444 exactMatch