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10753883,18573875 | 12556481 | 21712384 | 10753883 | 16002321,16189514,21712384,25416956,26940976,29892012,32296183,32814053,33961781 | 18774950 | | 10753883,18573875", "nando": "http://nanbyodata.jp/ontology/NANDO_1200485", "nando_id": "NANDO:1200485", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "マリネスコ・シェーグレン症候群", "nando_label_en": "Marinesco-Sjogren syndrome", "mondo_id": "MONDO:0009567", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3561", "ncbi_id": "3561", "genesymbol": "IL2RG", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0042010 | http://purl.obolibrary.org/obo/GO_0019976 | http://purl.obolibrary.org/obo/GO_0015026 | 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12522104,15337744,17050673,18063693,18441008,19171140,19846556,19914244,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6729", "ncbi_id": "6729", "genesymbol": "SRP54", "go_terms": "endoplasmic reticulum signal peptide binding | 7S RNA binding | ATP hydrolysis activity | RNA binding | protein binding | GTP binding | ribonucleoprotein complex binding | GTPase activity | GDP binding", "go_ids": "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", "go_pmid_ids": "9511762 | 18089836,9511762 | | 22658674 | 24965446,33053321 | 8622769 | 9511762 | 28972538,8247130 | 8622769", "nando": "http://nanbyodata.jp/ontology/NANDO_1200356", "nando_id": "NANDO:1200356", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シュワッハマン・ダイアモンド症候群", "nando_label_en": "Shwachman-Diamond syndrome", "mondo_id": "MONDO:0009833", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6775", "ncbi_id": "6775", "genesymbol": "STAT4", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | 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| 24217950 | | | | | | | 31439799 | 24217950 | | | 12775584,19836338,23812375,28514442,33961781,35384245 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2066", "ncbi_id": "2066", "genesymbol": "ERBB4", "go_terms": "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 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"http://nanbyodata.jp/ontology/NANDO_1200130", "nando_id": "NANDO:1200130", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "フコシドーシス", "nando_label_en": "Fucosidosis", "mondo_id": "MONDO:0009254", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2521", "ncbi_id": "2521", "genesymbol": "FUS", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2548", "ncbi_id": "2548", "genesymbol": "GAA", "go_terms": "carbohydrate binding | alpha-glucosidase 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| http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0033919", "go_pmid_ids": "10929008 | 22658674 | | 28375157 | | 10929008", "nando": "http://nanbyodata.jp/ontology/NANDO_1200368", "nando_id": "NANDO:1200368", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性多発性嚢胞腎", "nando_label_en": "Autosomal dominant polycystic kidney disease", "mondo_id": "MONDO:0004691", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2670", "ncbi_id": "2670", "genesymbol": "GFAP", "go_terms": "identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding", "go_ids": "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", "go_pmid_ids": "25416956,25910212,32296183 | | 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11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4210", "ncbi_id": "4210", "genesymbol": "MEFV", "go_terms": "zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding", "go_ids": "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", "go_pmid_ids": "11115844 | | 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7749984 | | 15771576 | | | | 19041327 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200329", "nando_id": "NANDO:1200329", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MHCクラスII欠損症", "nando_label_en": "MHC class II deficiency", "mondo_id": "MONDO:0008855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4312", "ncbi_id": "4312", "genesymbol": "MMP1", "go_terms": "zinc ion binding | peptidase activity | serine-type endopeptidase activity | metalloendopeptidase activity | endopeptidase activity", "go_ids": "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", "go_pmid_ids": " | 23845380 | | 9920899 | 19022250", "nando": "http://nanbyodata.jp/ontology/NANDO_1200238", "nando_id": "NANDO:1200238", "nando_category": "指定難病", 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http://purl.obolibrary.org/obo/GO_0099184", "go_pmid_ids": "24327345,9313898 | | 17498690 | 17498690 | 7536898 | 17498690 | 32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4750", "ncbi_id": "4750", "genesymbol": "NEK1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | | | | | | | 14690447,24510904,24947832,26167768,26290490,28514442,33961781,35271311,36931259 | 15604234 | | | | | | | | | | | | | 19158487 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4914", "ncbi_id": "4914", "genesymbol": "NTRK1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200553", "nando_id": "NANDO:1200553", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性無痛無汗症", "nando_label_en": "Congenital insensitivity to pain with anhidrosis", "mondo_id": "MONDO:0009746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23129", "ncbi_id": "23129", "genesymbol": "PLXND1", "go_terms": "semaphorin receptor activity | protein domain specific binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 24841563 | 17318185,24139859,24841563,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200559", "nando_id": "NANDO:1200559", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "メビウス症候群", "nando_label_en": "Moebius syndrome", "mondo_id": "MONDO:0008006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9723", "ncbi_id": "9723", "genesymbol": "SEMA3E", "go_terms": "receptor ligand activity | chemorepellent activity | semaphorin receptor binding | protein binding | neuropilin binding", "go_ids": "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", "go_pmid_ids": "25985275 | | 25985275 | 17318185 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200464", "nando_id": "NANDO:1200464", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "チャージ症候群", "nando_label_en": "CHARGE syndrome", "mondo_id": "MONDO:0008965", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7099", "ncbi_id": "7099", "genesymbol": "TLR4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200284", "nando_id": "NANDO:1200284", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7128", "ncbi_id": "7128", "genesymbol": "TNFAIP3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7132", "ncbi_id": "7132", "genesymbol": "TNFRSF1A", "go_terms": "signaling receptor activity | tumor necrosis factor receptor activity | tumor necrosis factor binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200472", "nando_id": "NANDO:1200472", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "TNF受容体関連周期性症候群", "nando_label_en": "TNF receptor-associated periodic fever syndrome", "mondo_id": "MONDO:0007727", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/355", "ncbi_id": "355", "genesymbol": "FAS", "go_terms": "calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200284", "nando_id": "NANDO:1200284", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9966", "ncbi_id": "9966", "genesymbol": "TNFSF15", "go_terms": "tumor necrosis factor receptor binding | cytokine activity | protein binding | signaling receptor binding", "go_ids": "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", "go_pmid_ids": " | | 21300286,32814053 | 9434163", "nando": "http://nanbyodata.jp/ontology/NANDO_1200439", "nando_id": "NANDO:1200439", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性胆汁性胆管炎", "nando_label_en": "Primary biliary cholangitis", "mondo_id": "MONDO:0005388", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7292", "ncbi_id": "7292", "genesymbol": "TNFSF4", "go_terms": "protein binding | tumor necrosis factor receptor binding | cytokine activity | signaling receptor binding | tumor necrosis factor receptor superfamily binding", "go_ids": "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", "go_pmid_ids": "16905106 | | | 7913952 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7137", "ncbi_id": "7137", "genesymbol": "TNNI3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200286", "nando_id": "NANDO:1200286", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肥大型心筋症", "nando_label_en": "Hypertrophic cardiomyopathy", "mondo_id": "MONDO:0005045", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7137", "ncbi_id": "7137", "genesymbol": "TNNI3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200288", "nando_id": "NANDO:1200288", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "閉塞性肥大型心筋症", "nando_label_en": "Hypertrophic obstructive cardiomyopathy", "mondo_id": "MONDO:0005045", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9101", "ncbi_id": "9101", "genesymbol": "USP8", "go_terms": "SH3 domain binding | cysteine-type deubiquitinase activity | protein binding | K48-linked deubiquitinase activity | cadherin binding | cysteine-type endopeptidase activity | K63-linked deubiquitinase activity", "go_ids": "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", "go_pmid_ids": " | 16520378,18388320,18728397,27444016 | 15161933,15778465,17711858,18329369,19302785,19427866,24378640,28514442,33961781,35271311,36931259 | 16520378 | 25468996 | 9827704 | 16520378", "nando": "http://nanbyodata.jp/ontology/NANDO_1200379", "nando_id": "NANDO:1200379", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "クッシング病", "nando_label_en": "Cushing disease", "mondo_id": "MONDO:0009050", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9217", "ncbi_id": "9217", "genesymbol": "VAPB", "go_terms": "protein binding | protein-membrane adaptor activity | protein heterodimerization activity | FFAT motif binding | beta-tubulin binding | cadherin binding | protein homodimerization activity | microtubule binding | enzyme binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79258", "ncbi_id": "79258", "genesymbol": "MMEL1", "go_terms": "metalloendopeptidase activity | endopeptidase activity | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": " | 18539150 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200439", "nando_id": "NANDO:1200439", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性胆汁性胆管炎", "nando_label_en": "Primary biliary cholangitis", "mondo_id": "MONDO:0005388", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9103", "ncbi_id": "9103", "genesymbol": "FCGR2C", "go_terms": "IgG receptor activity | IgG binding | transmembrane signaling receptor activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | 2531080 | 17474147,17785206", "nando": "http://nanbyodata.jp/ontology/NANDO_1200315", "nando_id": "NANDO:1200315", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "免疫性血小板減少症", "nando_label_en": "Immune thrombocytopenia", "mondo_id": "MONDO:0008558", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9896", "ncbi_id": "9896", "genesymbol": "FIG4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "17556371,19037259,28514442,32296183,33961781,35271311 | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/149233", "ncbi_id": "149233", "genesymbol": "IL23R", "go_terms": "interleukin-12 receptor binding | peptide hormone binding | cytokine receptor activity | protein binding | cytokine binding | prolactin receptor activity | interleukin-23 binding | interleukin-23 receptor activity", "go_ids": "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", "go_pmid_ids": "12023369 | | 29287995 | 12023369,25416956 | | | 12023369 | 12023369", "nando": "http://nanbyodata.jp/ontology/NANDO_1200284", "nando_id": "NANDO:1200284", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/80114", "ncbi_id": "80114", "genesymbol": "BICC1", "go_terms": "RNA binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0003723", "go_pmid_ids": "22658674", "nando": "http://nanbyodata.jp/ontology/NANDO_1200368", "nando_id": "NANDO:1200368", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性多発性嚢胞腎", "nando_label_en": "Autosomal dominant polycystic kidney disease", "mondo_id": "MONDO:0004691", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57462", "ncbi_id": "57462", "genesymbol": "MYORG", "go_terms": "hydrolase activity, hydrolyzing O-glycosyl compounds", "go_ids": "http://purl.obolibrary.org/obo/GO_0004553", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200207", "nando_id": "NANDO:1200207", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性基底核石灰化症", "nando_label_en": "Idiopathic basal ganglia calcification", "mondo_id": "MONDO:0008947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55636", "ncbi_id": "55636", "genesymbol": "CHD7", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200464", "nando_id": "NANDO:1200464", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "チャージ症候群", "nando_label_en": "CHARGE syndrome", "mondo_id": "MONDO:0008965", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79631", "ncbi_id": "79631", "genesymbol": "EFL1", "go_terms": "translation elongation factor activity | protein binding | ribosome binding | GTP binding | GTPase activity", "go_ids": "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", "go_pmid_ids": " | 30545121,39251607 | 21536732 | | 21536732", "nando": "http://nanbyodata.jp/ontology/NANDO_1200356", "nando_id": "NANDO:1200356", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シュワッハマン・ダイアモンド症候群", "nando_label_en": "Shwachman-Diamond syndrome", "mondo_id": "MONDO:0009833", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9993", "ncbi_id": "9993", "genesymbol": "DGCR2", "go_terms": "carbohydrate binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 33961781,34819669", "nando": "http://nanbyodata.jp/ontology/NANDO_1200339", "nando_id": "NANDO:1200339", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0008644", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/175", "ncbi_id": "175", "genesymbol": "AGA", "go_terms": "protein binding | peptidase activity | N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008233 | http://purl.obolibrary.org/obo/GO_0003948", "go_pmid_ids": "32296183,32814053 | | 1281977,1904874", "nando": "http://nanbyodata.jp/ontology/NANDO_1200133", "nando_id": "NANDO:1200133", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "アスパルチルグルコサミン尿症", "nando_label_en": "Aspartylglucosaminuria", "mondo_id": "MONDO:0008830", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/204", "ncbi_id": "204", "genesymbol": "AK2", "go_terms": "adenylate kinase activity | ATP binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004017 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "6182143 | | 32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200322", "nando_id": "NANDO:1200322", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "細網異形成症", "nando_label_en": "Reticular dysgenesis", "mondo_id": "MONDO:0009973", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9782", "ncbi_id": "9782", "genesymbol": "MATR3", "go_terms": "RNA binding | miRNA binding | protein binding | structural molecule activity | zinc ion binding | identical protein binding", "go_ids": "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", "go_pmid_ids": "22658674,22681889 | 28431233 | 16189514,17043677,17932509,19486527,20195357,25416956,25959826,26496610,26979993,27731383,29961565,30021884,31413325,32296183,32814053,37548402 | 2033075 | | 25416956,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/190", "ncbi_id": "190", "genesymbol": "NR0B1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387", "nando": "http://nanbyodata.jp/ontology/NANDO_1200403", "nando_id": "NANDO:1200403", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性副腎低形成症", "nando_label_en": "Congenital adrenal hypoplasia", "mondo_id": "MONDO:0010264", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/190", "ncbi_id": "190", "genesymbol": "NR0B1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387", "nando": "http://nanbyodata.jp/ontology/NANDO_1200404", "nando_id": "NANDO:1200404", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "NR0B1異常症", "nando_label_en": "NR0B1　abnormality", "mondo_id": "MONDO:0010226", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/641", "ncbi_id": "641", "genesymbol": "BLM", "go_terms": "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 | 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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 | 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"MONDO:0008876", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/659", "ncbi_id": "659", "genesymbol": "BMPR2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200427", "nando_id": "NANDO:1200427", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肺静脈閉塞症", "nando_label_en": "Pulmonary veno-occlusive disease", "mondo_id": "MONDO:0009937", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/710", "ncbi_id": "710", "genesymbol": "SERPING1", "go_terms": "serine-type endopeptidase inhibitor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "11527969 | 10570951,10946292,16237761,22046132,22483117,25359215,25910212,28484054,28742139,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200365", "nando_id": "NANDO:1200365", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性血管性浮腫", "nando_label_en": "Hereditary angioedema", "mondo_id": "MONDO:0007361", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7415", "ncbi_id": "7415", "genesymbol": "VCP", "go_terms": "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 | 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| 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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7535", "ncbi_id": "7535", "genesymbol": "ZAP70", "go_terms": "protein binding | ATP binding | phosphotyrosine residue binding | signaling receptor binding | non-membrane spanning protein tyrosine kinase activity | protein tyrosine kinase activity", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200327", "nando_id": "NANDO:1200327", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ZAP-70欠損症", "nando_label_en": "Zap-70 deficiency", "mondo_id": "MONDO:0010023", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/720", "ncbi_id": "720", "genesymbol": "C4A", "go_terms": "complement component C1q complex binding | endopeptidase inhibitor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "2395880 | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/720", "ncbi_id": "720", "genesymbol": "C4A", "go_terms": "complement component C1q complex binding | endopeptidase inhibitor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "2395880 | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200284", "nando_id": "NANDO:1200284", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/721", "ncbi_id": "721", "genesymbol": "C4B", "go_terms": "protein binding | endopeptidase inhibitor activity | carbohydrate binding | complement binding | complement component C1q complex binding", "go_ids": "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", "go_pmid_ids": "22071314 | | 2395880 | 2395880 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55830", "ncbi_id": "55830", "genesymbol": "GLT8D1", "go_terms": "UDP-glycosyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0008194", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79932", "ncbi_id": "79932", "genesymbol": "KIAA0319L", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "20697954,25416956", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3064", "ncbi_id": "3064", "genesymbol": "HTT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200012", "nando_id": "NANDO:1200012", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ハンチントン病", "nando_label_en": "Huntington's disease", "mondo_id": "MONDO:0007739", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3070", "ncbi_id": "3070", "genesymbol": "HELLS", "go_terms": "chromatin binding | helicase activity | ATP binding | protein binding | hydrolase activity", "go_ids": "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", "go_pmid_ids": " | | | 22157815,32296183,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200334", "nando_id": "NANDO:1200334", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ICF症候群", "nando_label_en": "ICF syndrome", "mondo_id": "MONDO:0000133", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3106", "ncbi_id": "3106", "genesymbol": "HLA-B", "go_terms": "signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding", "go_ids": "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", "go_pmid_ids": "20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949", "nando": "http://nanbyodata.jp/ontology/NANDO_1200284", "nando_id": "NANDO:1200284", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3123", "ncbi_id": "3123", "genesymbol": "HLA-DRB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3178", "ncbi_id": "3178", "genesymbol": "HNRNPA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3265", "ncbi_id": "3265", "genesymbol": "HRAS", "go_terms": "GTPase activity | GTP binding | protein binding | protein-membrane adaptor activity | GDP binding | G protein activity", "go_ids": "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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200463", "nando_id": "NANDO:1200463", "nando_category": "指定難病", "nando_category_en": "Designated intractable 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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", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200331", "nando_id": "NANDO:1200331", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "毛細血管拡張性運動失調症", "nando_label_en": "Ataxia telangiectasia", "mondo_id": "MONDO:0008840", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5015", "ncbi_id": "5015", "genesymbol": "OTX2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "20530484,32296183,32814053 | 15705863 | 28473536 | 12559959 | 12559959,20530484 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200560", "nando_id": "NANDO:1200560", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "中隔視神経形成異常症／ドモルシア症候群", "nando_label_en": "Septo-optic dysplasia / De Morsier syndrome", "mondo_id": "MONDO:0008428", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5133", "ncbi_id": "5133", "genesymbol": "PDCD1", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "15240681,17489864,20587542,21982860,23417675,26602187,28046066,30487606 | 21276005,38377992", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5155", "ncbi_id": "5155", "genesymbol": "PDGFB", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "7073684 | 7073684 | 2836953 | 1661670,20534510,2439522,2536956,2836953 | 1396586,23139410,7679113 | 17942966 | 8900172 | 21245381 | 12070119 | 10806482,11297552,12070119,17981115,20534510,2536956,32296183,7679113", "nando": "http://nanbyodata.jp/ontology/NANDO_1200207", "nando_id": "NANDO:1200207", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性基底核石灰化症", "nando_label_en": "Idiopathic basal ganglia calcification", "mondo_id": "MONDO:0008947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5159", "ncbi_id": "5159", "genesymbol": "PDGFRB", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200207", "nando_id": "NANDO:1200207", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性基底核石灰化症", "nando_label_en": "Idiopathic basal ganglia calcification", "mondo_id": "MONDO:0008947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5216", "ncbi_id": "5216", "genesymbol": "PFN1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22681889 | 16531231,17470807,18573880,18689676,19000816,19338310,23153535,25255767,32814053,35271311,9822597,9843499 | 17914456 | 7758455 | 17914456,7758455 | 18573880 | 7758455 | 25468996 | | 24700464", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5310", "ncbi_id": "5310", "genesymbol": "PKD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "27214281 | | 27214281 | 10097141,15563610,19556541,20168298,20856870,21642537,24939912,30093605,37681898 | 17980165 | | | 9171830 | 9192675", "nando": "http://nanbyodata.jp/ontology/NANDO_1200368", "nando_id": "NANDO:1200368", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性多発性嚢胞腎", "nando_label_en": "Autosomal dominant polycystic kidney disease", "mondo_id": "MONDO:0004691", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5311", "ncbi_id": "5311", "genesymbol": "PKD2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200368", "nando_id": "NANDO:1200368", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性多発性嚢胞腎", "nando_label_en": "Autosomal dominant polycystic kidney disease", "mondo_id": "MONDO:0004691", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5314", "ncbi_id": "5314", "genesymbol": "PKHD1", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "16243292,18235088,20048263,20709014 | 11919560", "nando": "http://nanbyodata.jp/ontology/NANDO_1200369", "nando_id": "NANDO:1200369", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体劣性多発性嚢胞腎", "nando_label_en": "Autosomal recessive polycystic kidney disease", "mondo_id": "MONDO:0009889", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5444", "ncbi_id": "5444", "genesymbol": "PON1", "go_terms": "arylesterase activity | acyl-L-homoserine-lactone lactonohydrolase activity | calcium ion binding | aryldialkylphosphatase activity | protein homodimerization activity | phospholipid binding", "go_ids": "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", "go_pmid_ids": "15098021,1673382,7638166 | 15772423 | 15098021 | 15098021,7638166 | 15772423 | 10479665", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5445", "ncbi_id": "5445", "genesymbol": "PON2", "go_terms": "metal ion binding | acyl-L-homoserine-lactone lactonohydrolase activity | protein homodimerization activity | arylesterase activity | protein binding", "go_ids": "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", "go_pmid_ids": " | 15772423 | 15772423 | | 33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5446", "ncbi_id": "5446", "genesymbol": "PON3", "go_terms": "acyl-L-homoserine-lactone lactonohydrolase activity | protein homodimerization activity | aryldialkylphosphatase activity | arylesterase activity | metal ion binding", "go_ids": "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", "go_pmid_ids": "15772423 | 15772423 | | 15772423,8661009 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5450", "ncbi_id": "5450", "genesymbol": "POU2AF1", "go_terms": "transcription coactivator activity | DNA binding | protein binding | transcription coregulator activity | POU domain binding", "go_ids": "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", "go_pmid_ids": "11380252 | | 11483518,28514442,32296183,33961781 | 7859290 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200439", "nando_id": "NANDO:1200439", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性胆汁性胆管炎", "nando_label_en": "Primary biliary cholangitis", "mondo_id": "MONDO:0005388", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5476", "ncbi_id": "5476", "genesymbol": "CTSA", "go_terms": "serine-type carboxypeptidase activity | carboxypeptidase activity | enzyme activator activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004185 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0008047", "go_pmid_ids": "12505983,1907282 | 2244901 | 3107551", "nando": "http://nanbyodata.jp/ontology/NANDO_1200119", "nando_id": "NANDO:1200119", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ガラクトシアリドーシス", "nando_label_en": "Galactosialidosis", "mondo_id": "MONDO:0009737", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51422", "ncbi_id": "51422", "genesymbol": "PRKAG2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279", "nando": "http://nanbyodata.jp/ontology/NANDO_1200286", "nando_id": "NANDO:1200286", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肥大型心筋症", "nando_label_en": "Hypertrophic cardiomyopathy", "mondo_id": "MONDO:0005045", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51422", "ncbi_id": "51422", "genesymbol": "PRKAG2", "go_terms": "protein kinase binding | protein binding | protein kinase activator activity | cAMP-dependent protein kinase 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"go_terms": "4 iron, 4 sulfur cluster binding | protein binding | DNA-directed DNA polymerase activity | metal ion binding | zinc ion binding | DNA binding | nucleotide binding", "go_ids": "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", "go_pmid_ids": " | 22828282 | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200559", "nando_id": "NANDO:1200559", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "メビウス症候群", "nando_label_en": "Moebius syndrome", "mondo_id": "MONDO:0008006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5993", "ncbi_id": "5993", "genesymbol": "RFX5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10938133,16464847,20211142,20732328,25752541,26496610,28514442,33961781 | 9806546 | | 28473536 | 10586057,9806546 | | 23332764", "nando": "http://nanbyodata.jp/ontology/NANDO_1200329", "nando_id": "NANDO:1200329", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": 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"nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6575", "ncbi_id": "6575", "genesymbol": "SLC20A2", "go_terms": "signaling receptor activity | sodium:phosphate symporter activity | virus receptor activity | inorganic phosphate transmembrane transporter activity", "go_ids": "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", "go_pmid_ids": "8302848 | 12205090,15955065,16790504,17494632,22327515,28722801,30704756 | 12205090,15955065 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200207", "nando_id": "NANDO:1200207", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性基底核石灰化症", "nando_label_en": "Idiopathic basal ganglia calcification", "mondo_id": "MONDO:0008947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6515", "ncbi_id": "6515", "genesymbol": "SLC2A3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "26176916,8457197 | 26176916 | | 8457197 | 10862609,9228080 | 32296183,35810171 | 8457197", "nando": "http://nanbyodata.jp/ontology/NANDO_1200012", "nando_id": "NANDO:1200012", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ハンチントン病", "nando_label_en": "Huntington's disease", "mondo_id": "MONDO:0007739", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6647", "ncbi_id": "6647", "genesymbol": "SOD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200002", "nando_id": "NANDO:1200002", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋萎縮性側索硬化症", "nando_label_en": "Amyotrophic lateral sclerosis", "mondo_id": "MONDO:0004976", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6657", "ncbi_id": "6657", "genesymbol": "SOX2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 18456656,19736317,23667531,24048479,24525231,25416956,25702638,27334688,29358331,30442713,31515488 | 16153702,18285410,18407919,19427902,7849401 | 20713518 | | 18407919 | 18710938 | 16153702,18027866,7849401", "nando": "http://nanbyodata.jp/ontology/NANDO_1200560", "nando_id": "NANDO:1200560", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "中隔視神経形成異常症／ドモルシア症候群", "nando_label_en": "Septo-optic dysplasia / De Morsier syndrome", "mondo_id": "MONDO:0008428", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6696", "ncbi_id": "6696", "genesymbol": "SPP1", "go_terms": "cytokine activity | small molecule binding | integrin binding | extracellular matrix binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 33914399 | 25839998 | | 10747989,11162539,16189514,21988832,22582013,25416956,25789606,25910212,26091039,32296183,32814053,8560266", "nando": "http://nanbyodata.jp/ontology/NANDO_1200272", "nando_id": "NANDO:1200272", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": 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| 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", "go_pmid_ids": "8650207 | | 25127057,27368102 | 14676191 | 8650207 | 16169070,20562859,21900206,25416956,25686248,32296183 | | 29343546,29507397,31857589,37306101,37802024 | 22017874,27498865,31857589,34893540,36221902 | 37306101 | 28871090 | | 31281713 | 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16189514,25416956,26871637,31515488,32296183,32814053,33961781 | 33986552 | 33986552 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200410", "nando_id": "NANDO:1200410", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Allgrove症候群", "nando_label_en": "Allgrove syndrome", "mondo_id": "MONDO:0009279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54899", "ncbi_id": "54899", "genesymbol": "PXK", "go_terms": "phosphatidylinositol binding | protein kinase activity | protein binding | nucleotide binding | actin binding | ATP binding", "go_ids": "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", "go_pmid_ids": "16142408 | 16142408 | 16135750 | 16142408 | | 16142408", "nando": 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"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", "go_ids": "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", "go_pmid_ids": "21289173 | 20551380,23979707,25037231,27559042,28327460,28675934 | 21289173 | 21126803 | | 11956183,12604605,21596751,23374253 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200224", "nando_id": "NANDO:1200224", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シュワルツ・ヤンペル症候群", "nando_label_en": "Schwartz-Jampel syndrome", "mondo_id": "MONDO:0009717", "nando2mondo_match": 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"nando_label": "オーメン症候群", "nando_label_en": "Omenn syndrome", "mondo_id": "MONDO:0011338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3569", "ncbi_id": "3569", "genesymbol": "IL6", "go_terms": "identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding", "go_ids": "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", "go_pmid_ids": "8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960", "nando": "http://nanbyodata.jp/ontology/NANDO_1200469", "nando_id": "NANDO:1200469", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "若年性特発性関節炎", "nando_label_en": "Juvenile idiopathic arthritis", "mondo_id": "MONDO:0011429", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3569", "ncbi_id": "3569", "genesymbol": "IL6", "go_terms": "identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding", "go_ids": "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", "go_pmid_ids": "8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960", "nando": "http://nanbyodata.jp/ontology/NANDO_1200470", "nando_id": "NANDO:1200470", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身型若年性特発性関節炎", "nando_label_en": "Systemic juvenile idiopathic arthritis", "mondo_id": "MONDO:0019434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3575", "ncbi_id": "3575", "genesymbol": "IL7R", "go_terms": "interleukin-7 receptor activity | protein binding | antigen binding | cytokine receptor activity", "go_ids": "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", "go_pmid_ids": "8128231 | 19141282,32296183,8266077 | 9495344 | 11418668,20974963", "nando": "http://nanbyodata.jp/ontology/NANDO_1200324", "nando_id": "NANDO:1200324", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "オーメン症候群", "nando_label_en": "Omenn syndrome", "mondo_id": "MONDO:0011338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5995", "ncbi_id": "5995", "genesymbol": "RGR", "go_terms": "G protein-coupled receptor activity | protein binding | G protein-coupled photoreceptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004930 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008020", "go_pmid_ids": "8641686 | 16189514,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/56244", "ncbi_id": "56244", "genesymbol": "BTNL2", "go_terms": "signaling receptor binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200415", "nando_id": "NANDO:1200415", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サルコイドーシス", "nando_label_en": "Sarcoidosis", "mondo_id": "MONDO:0019338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/59", "ncbi_id": "59", "genesymbol": "ACTA2", "go_terms": "protein binding | protein kinase binding | ATP binding | hydrolase activity", "go_ids": "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", "go_pmid_ids": "28514442,33961781 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200183", "nando_id": "NANDO:1200183", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "もやもや病", "nando_label_en": "Moyamoya disease", "mondo_id": "MONDO:0016820", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10320", "ncbi_id": "10320", "genesymbol": "IKZF1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200245", "nando_id": "NANDO:1200245", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "スティーヴンス・ジョンソン症候群", "nando_label_en": "Stevens-Johnson syndrome", "mondo_id": "MONDO:0018229", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10758", "ncbi_id": "10758", "genesymbol": "TRAF3IP2", "go_terms": "signaling receptor binding | protein binding | ubiquitin protein ligase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061630", "go_pmid_ids": " | 12459498,21516116,24120361,25416956 | 19825828", "nando": "http://nanbyodata.jp/ontology/NANDO_1200363", "nando_id": "NANDO:1200363", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/128674", "ncbi_id": "128674", "genesymbol": "PROKR2", "go_terms": "protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930", "go_pmid_ids": "32296183 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10594", "ncbi_id": "10594", "genesymbol": "PRPF8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 17559875 | | | | 17559875 | | 16723661,17332742,18951082,20696395,22365833,22720776,23704370,23793891,26711270,27173435,28514442,30021884,32814053,33961781,35271311,39251607,9774689 | 22658674,22681889 | 20595234", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1145", "ncbi_id": "1145", "genesymbol": "CHRNE", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "7531341 | 8872460 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200021", "nando_id": "NANDO:1200021", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性筋無力症候群", "nando_label_en": "Congenital myasthenic syndrome", "mondo_id": "MONDO:0018940", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1200", "ncbi_id": "1200", "genesymbol": "TPP1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422", "nando": "http://nanbyodata.jp/ontology/NANDO_1200150", "nando_id": "NANDO:1200150", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "セロイドリポフスチノーシス", "nando_label_en": "Neuronal ceroid-lipofuscinosis", "mondo_id": "MONDO:0016295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1259", "ncbi_id": "1259", "genesymbol": "CNGA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "34699778 | 34699778 | | | 34699778 | 34699778 | | 20890309", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1258", "ncbi_id": "1258", "genesymbol": "CNGB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 7682292 | 34699778 | | 20890309 | 34699778 | | 24164424,34699778 | 24164424,34699778", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1280", "ncbi_id": "1280", "genesymbol": "COL2A1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "32296183,32814053 | 29030641 | | 8660302 | 27559042,28327460,28344315,28675934,8660302 | 9354468 | 8900172", "nando": "http://nanbyodata.jp/ontology/NANDO_1200373", "nando_id": "NANDO:1200373", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性大腿骨頭壊死症", "nando_label_en": "Idiopathic osteonecrosis of femoral head", "mondo_id": "MONDO:0012126", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1312", "ncbi_id": "1312", "genesymbol": "COMT", "go_terms": "O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding", "go_ids": "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", "go_pmid_ids": "1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200339", "nando_id": "NANDO:1200339", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0018923", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1380", "ncbi_id": "1380", "genesymbol": "CR2", "go_terms": "complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding", "go_ids": "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", "go_pmid_ids": "2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1387", "ncbi_id": "1387", "genesymbol": "CREBBP", "go_terms": "histone H3K18 acetyltransferase activity | histone H2AK9 acetyltransferase activity | histone H4K16 acetyltransferase activity | histone H3K122 acetyltransferase activity | chromatin binding | acetyltransferase activity | protein-containing complex binding | 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activity | damaged DNA binding | histone H2BK5 acetyltransferase activity", "go_ids": "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 | 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"ルビンシュタイン・テイビ症候群", "nando_label_en": "Rubinstein-Taybi syndrome", "mondo_id": "MONDO:0019188", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1493", "ncbi_id": "1493", "genesymbol": "CTLA4", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "11279501,11279502,20587542,21982860,25241761,26206937,32296183,33961781,7807015,9398332,9813138", "nando": "http://nanbyodata.jp/ontology/NANDO_1200263", "nando_id": "NANDO:1200263", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "多発血管炎性肉芽腫症", "nando_label_en": "Granulomatosis with polyangiitis", "mondo_id": "MONDO:0012105", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1497", "ncbi_id": "1497", "genesymbol": "CTNS", "go_terms": "L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295", "go_pmid_ids": "11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465", "nando": "http://nanbyodata.jp/ontology/NANDO_1200161", "nando_id": "NANDO:1200161", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シスチン症", "nando_label_en": "Cystinosis", "mondo_id": "MONDO:0016239", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1509", "ncbi_id": "1509", "genesymbol": "CTSD", "go_terms": "peptidase activity | cysteine-type endopeptidase activity | aspartic-type endopeptidase activity | protein binding | aspartic-type peptidase activity", "go_ids": "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", "go_pmid_ids": "16997486,17188016 | | | 17112520,28493053,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200150", "nando_id": "NANDO:1200150", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "セロイドリポフスチノーシス", "nando_label_en": "Neuronal ceroid-lipofuscinosis", "mondo_id": "MONDO:0016295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1536", "ncbi_id": "1536", "genesymbol": "CYBB", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0070402 | 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"genesymbol": "HGSNAT", "go_terms": "acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019", "go_pmid_ids": "19823584,20650889 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200100", "nando_id": "NANDO:1200100", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サンフィリッポ症候群", "nando_label_en": "Sanfilippo disease", "mondo_id": "MONDO:0018937", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/138050", "ncbi_id": "138050", "genesymbol": "HGSNAT", "go_terms": "acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019", "go_pmid_ids": "19823584,20650889 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/165918", "ncbi_id": "165918", "genesymbol": "RNF168", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200336", "nando_id": "NANDO:1200336", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "RIDDLE症候群", "nando_label_en": "RIDDLE syndrome", "mondo_id": "MONDO:0012764", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1785", "ncbi_id": "1785", "genesymbol": "DNM2", "go_terms": "SH3 domain binding | microtubule binding | GTP binding | GTPase activity | enzyme binding | protein binding | membrane scission GTPase motor activity | 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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", "go_ids": "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", "go_pmid_ids": " | | | | | | 16540465 | | | | | | 16540465 | | | | 12176997,17544405,19713527,20059950,25036637,25241761,33961781 | | 10092583 | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200563", "nando_id": "NANDO:1200563", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "片側巨脳症", "nando_label_en": "Hemimegalencephaly", "mondo_id": "MONDO:0020492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3730", "ncbi_id": "3730", "genesymbol": "ANOS1", "go_terms": "protein binding | heparin binding | serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent", "go_ids": "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", "go_pmid_ids": "19696444,32296183 | | | 8842728", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": 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"NANDO:1200462", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "CFC症候群", "nando_label_en": "CFC Syndrome", "mondo_id": "MONDO:0015280", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3909", "ncbi_id": "3909", "genesymbol": "LAMA3", "go_terms": "signaling receptor binding | structural molecule activity | extracellular matrix structural constituent", "go_ids": "http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198 | http://purl.obolibrary.org/obo/GO_0005201", "go_pmid_ids": " | 8586427 | 27068509", "nando": "http://nanbyodata.jp/ontology/NANDO_1200236", "nando_id": "NANDO:1200236", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "接合部型表皮水疱症", "nando_label_en": "Junctional epidermolysis bullosa", "mondo_id": "MONDO:0017612", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3914", "ncbi_id": "3914", "genesymbol": "LAMB3", "go_terms": "extracellular matrix structural constituent | structural molecule activity | protein binding | protein-containing complex binding", "go_ids": "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", "go_pmid_ids": "25037231 | 7550320 | 19275936 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200236", "nando_id": "NANDO:1200236", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "接合部型表皮水疱症", "nando_label_en": "Junctional epidermolysis bullosa", "mondo_id": "MONDO:0017612", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3918", "ncbi_id": "3918", "genesymbol": "LAMC2", "go_terms": "extracellular matrix structural constituent | heparin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0008201", "go_pmid_ids": "25037231,28675934 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200236", "nando_id": "NANDO:1200236", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "接合部型表皮水疱症", "nando_label_en": "Junctional epidermolysis bullosa", "mondo_id": "MONDO:0017612", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3949", "ncbi_id": "3949", "genesymbol": "LDLR", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0001540 | http://purl.obolibrary.org/obo/GO_0005041 | http://purl.obolibrary.org/obo/GO_0060090 | 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"nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3988", "ncbi_id": "3988", "genesymbol": "LIPA", "go_terms": "lipase activity | sterol esterase activity | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": "1718995 | 15269241,1718995,7204383,8112342,9633819 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200142", "nando_id": "NANDO:1200142", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "酸性リパーゼ欠損症", "nando_label_en": "Acid lipase deficiency", "mondo_id": "MONDO:0019148", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10461", "ncbi_id": "10461", "genesymbol": "MERTK", "go_terms": "ATP binding | epidermal growth factor receptor activity | GPI-linked ephrin receptor activity | protein tyrosine kinase collagen receptor activity | vascular 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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", "go_pmid_ids": " | | | | | 20103767 | | | | | | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10002", "ncbi_id": "10002", "genesymbol": "NR2E3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22174013 | | 10220376 | 10220376 | | | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6775", "ncbi_id": "6775", "genesymbol": "STAT4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22740693,32814053 | | | 31562212,37256972 | 18591661", "nando": "http://nanbyodata.jp/ontology/NANDO_1200471", "nando_id": "NANDO:1200471", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "関節型若年性特発性関節炎", "nando_label_en": "Articular-type juvenile idiopathic arthritis", "mondo_id": "MONDO:0019433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6870", "ncbi_id": "6870", "genesymbol": "TACR3", "go_terms": "tachykinin receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004995 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 12716968,23597562", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6892", "ncbi_id": "6892", "genesymbol": "TAPBP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "36104323 | 12788224 | 12047747,12788224,22638925 | 12788224 | 12213826,15793001,17055437,18802093,19201886,22810586 | 12047747,12788224,22638925 | 17947644 | 17947644 | 12788224 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200328", "nando_id": "NANDO:1200328", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MHCクラスI欠損症", "nando_label_en": "MHC class I deficiency", "mondo_id": "MONDO:0011476", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6925", "ncbi_id": "6925", "genesymbol": "TCF4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200440", "nando_id": "NANDO:1200440", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性硬化性胆管炎", "nando_label_en": "Primary sclerosing cholangitis", "mondo_id": "MONDO:0013433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/49855", "ncbi_id": "49855", "genesymbol": "SCAPER", "go_terms": "protein binding | nucleic acid binding | zinc ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003676 | http://purl.obolibrary.org/obo/GO_0008270", "go_pmid_ids": "17698606,32814053 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64581", "ncbi_id": "64581", "genesymbol": "CLEC7A", "go_terms": "metal ion binding | (1->3)-beta-D-glucan binding | MHC protein binding | pattern recognition receptor activity | identical protein binding | carbohydrate binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 22267217,24721111,25251945 | 11567029 | 11567029 | 32296183 | 11567029 | 21516116,23674515,25416956,31515488,31875558,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200363", "nando_id": "NANDO:1200363", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64421", "ncbi_id": "64421", "genesymbol": "DCLRE1C", "go_terms": "5'-3' exonuclease activity | damaged DNA binding | endonuclease activity | 5'-3' DNA exonuclease activity | protein binding | single-stranded DNA endodeoxyribonuclease activity", "go_ids": "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", "go_pmid_ids": "11955432 | | | | 22529269,23219551,23523427,25941166,28780862,33961781 | 11955432", "nando": "http://nanbyodata.jp/ontology/NANDO_1200324", "nando_id": "NANDO:1200324", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "オーメン症候群", "nando_label_en": "Omenn syndrome", "mondo_id": "MONDO:0011338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/115650", "ncbi_id": "115650", "genesymbol": "TNFRSF13C", "go_terms": "signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23495", "ncbi_id": "23495", "genesymbol": "TNFRSF13B", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "10801128,10880535,10956646,20676093,25416956,25910212,32296183 | 9311921", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/50939", "ncbi_id": "50939", "genesymbol": "IMPG2", "go_terms": "heparin binding | hyaluronic acid binding | extracellular matrix structural constituent", "go_ids": "http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005540 | http://purl.obolibrary.org/obo/GO_0005201", "go_pmid_ids": " | 10702256 | 10702256", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/346007", "ncbi_id": "346007", "genesymbol": "EYS", "go_terms": "calcium ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005509", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23418", "ncbi_id": "23418", "genesymbol": "CRB1", "go_terms": "protein binding | calcium ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509", "go_pmid_ids": "11927608,15914641,17920587,33758649 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/84140", "ncbi_id": "84140", "genesymbol": "FAM161A", "go_terms": "microtubule binding | identical protein binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22791751 | 22791751,25416956,32296183 | 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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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200461", "nando_id": "NANDO:1200461", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ルビンシュタイン・テイビ症候群", "nando_label_en": "Rubinstein-Taybi syndrome", "mondo_id": "MONDO:0019188", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2153", "ncbi_id": "2153", "genesymbol": "F5", "go_terms": "copper ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 2844223,28514442,33961781,6323392,9556620", "nando": "http://nanbyodata.jp/ontology/NANDO_1200437", "nando_id": "NANDO:1200437", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "バッド・キアリ症候群", "nando_label_en": "Budd-Chiari syndrome", "mondo_id": "MONDO:0010947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2253", "ncbi_id": "2253", "genesymbol": "FGF8", "go_terms": "type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity", "go_ids": "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", "go_pmid_ids": "16384934 | 16384934 | 17265164,8891346 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2260", "ncbi_id": "2260", "genesymbol": "FGFR1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2717", "ncbi_id": "2717", "genesymbol": "GLA", "go_terms": "protein binding | signaling receptor binding | protein homodimerization activity | catalytic activity | hydrolase activity | galactoside binding | alpha-galactosidase activity", "go_ids": "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", "go_pmid_ids": "1332979,21949853,33961781,6313412 | 1332979 | 6256390 | 39940 | 7911050 | | 10838196,16372133,27211852,39940,8804427", "nando": "http://nanbyodata.jp/ontology/NANDO_1200157", "nando_id": "NANDO:1200157", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファブリー病", "nando_label_en": "Fabry disease", "mondo_id": "MONDO:0010526", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6890", "ncbi_id": "6890", "genesymbol": "TAP1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200328", "nando_id": "NANDO:1200328", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MHCクラスI欠損症", "nando_label_en": "MHC class I deficiency", "mondo_id": "MONDO:0011476", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2798", "ncbi_id": "2798", "genesymbol": "GNRHR", "go_terms": "gonadotropin-releasing hormone receptor activity | peptide binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004968 | http://purl.obolibrary.org/obo/GO_0042277", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2812", "ncbi_id": "2812", "genesymbol": "GP1BB", "go_terms": "identical protein binding | transmembrane signaling receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "18674540 | 3353370 | 11943773,18674540,18789323,4044584", "nando": "http://nanbyodata.jp/ontology/NANDO_1200339", "nando_id": "NANDO:1200339", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0018923", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2859", "ncbi_id": "2859", "genesymbol": "GPR35", "go_terms": "C-X-C chemokine receptor activity | G protein-coupled receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016494 | http://purl.obolibrary.org/obo/GO_0004930", "go_pmid_ids": "25411203,29068046,29875152 | 16754668,17940199", "nando": "http://nanbyodata.jp/ontology/NANDO_1200440", "nando_id": "NANDO:1200440", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性硬化性胆管炎", "nando_label_en": "Primary sclerosing cholangitis", "mondo_id": "MONDO:0013433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4282", "ncbi_id": "4282", "genesymbol": "MIF", "go_terms": "identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity", "go_ids": "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", "go_pmid_ids": "20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494", "nando": "http://nanbyodata.jp/ontology/NANDO_1200469", "nando_id": "NANDO:1200469", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "若年性特発性関節炎", "nando_label_en": "Juvenile idiopathic arthritis", "mondo_id": "MONDO:0011429", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4282", "ncbi_id": "4282", "genesymbol": "MIF", "go_terms": "identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity", "go_ids": "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", "go_pmid_ids": "20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494", "nando": "http://nanbyodata.jp/ontology/NANDO_1200470", "nando_id": "NANDO:1200470", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身型若年性特発性関節炎", "nando_label_en": "Systemic juvenile idiopathic arthritis", "mondo_id": "MONDO:0019434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4359", "ncbi_id": "4359", "genesymbol": "MPZ", "go_terms": "structural molecule activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005198", "go_pmid_ids": "7693129", "nando": "http://nanbyodata.jp/ontology/NANDO_1200016", "nando_id": "NANDO:1200016", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シャルコー・マリー・トゥース病", "nando_label_en": "Charcot-Marie-Tooth disease", "mondo_id": "MONDO:0015626", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4485", "ncbi_id": "4485", "genesymbol": "MST1", "go_terms": "protein binding | endopeptidase activity | serine-type endopeptidase activity | histone kinase activity | receptor tyrosine kinase binding", "go_ids": "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", "go_pmid_ids": "22087277,25193665,32296183 | | | | 22087277", "nando": "http://nanbyodata.jp/ontology/NANDO_1200440", "nando_id": "NANDO:1200440", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "原発性硬化性胆管炎", "nando_label_en": "Primary sclerosing cholangitis", "mondo_id": "MONDO:0013433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4615", "ncbi_id": "4615", "genesymbol": "MYD88", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200362", "nando_id": "NANDO:1200362", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MyD88欠損症", "nando_label_en": "MyD88 deficiency", "mondo_id": "MONDO:0012839", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4683", "ncbi_id": "4683", "genesymbol": "NBN", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200296", "nando_id": "NANDO:1200296", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性再生不良性貧血", "nando_label_en": "Idiopathic aplastic anemia", "mondo_id": "MONDO:0012197", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4763", "ncbi_id": "4763", "genesymbol": "NF1", "go_terms": "GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding", "go_ids": "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", "go_pmid_ids": "1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824", "nando": "http://nanbyodata.jp/ontology/NANDO_1200225", "nando_id": "NANDO:1200225", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "神経線維腫症", "nando_label_en": "Neurofibromatosis", "mondo_id": "MONDO:0018975", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4763", "ncbi_id": "4763", "genesymbol": "NF1", "go_terms": "GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding", "go_ids": "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", "go_pmid_ids": "1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824", "nando": "http://nanbyodata.jp/ontology/NANDO_1200226", "nando_id": "NANDO:1200226", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "神経線維腫症I型", "nando_label_en": "Neurofibromatosis type 1", "mondo_id": "MONDO:0018975", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4790", "ncbi_id": "4790", "genesymbol": "NFKB1", "go_terms": "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 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"go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4791", "ncbi_id": "4791", 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"9128", "genesymbol": "PRPF4", "go_terms": "U6 snRNA binding | protein binding | U4 snRNA binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017070 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030621", "go_pmid_ids": " | 16723661,19615732,22365833,23793891,25383878,26030138,28935721,29997244,33961781,9570313 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/84818", "ncbi_id": "84818", "genesymbol": "IL17RC", "go_terms": "signaling receptor binding | coreceptor activity | protein binding | interleukin-17 receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0015026 | 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| 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", "go_pmid_ids": " | 21393508,21593763 | 16339847 | 18675812,19013155,29568380 | 11571652,12189203,16027149,16339847,16481441,17356572,17689978,19694902,23296780,28102227,28298427,28734904,29568380,31286866,32296183 | | 25692595 | | 25692595", "nando": "http://nanbyodata.jp/ontology/NANDO_1200552", "nando_id": "NANDO:1200552", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "痙攣重積型（二相性）急性脳症", "nando_label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "mondo_id": "MONDO:0018198", "nando2mondo_match": "exactMatch" }, { "glycogene": 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"genesymbol": "APOB", "go_terms": "lipase binding | cholesterol transfer activity | low-density lipoprotein particle receptor binding | phospholipid binding | protein binding | receptor ligand activity | heparin binding", "go_ids": "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", "go_pmid_ids": "9685400 | 15797858 | 15797858,2563166,27477018 | 7126555 | 16203724,21911577,22580899,24447298,25108285,26224785,27138255,27487388,8245722 | 27477018 | 16233946", "nando": "http://nanbyodata.jp/ontology/NANDO_1200394", "nando_id": "NANDO:1200394", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性高コレステロール血症ホモ接合体", "nando_label_en": "Homozygous familial hypercholesterolemia", "mondo_id": 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"go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200462", "nando_id": "NANDO:1200462", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "CFC症候群", "nando_label_en": "CFC Syndrome", "mondo_id": "MONDO:0015280", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5605", "ncbi_id": "5605", "genesymbol": "MAP2K2", "go_terms": "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 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"nando_id": "NANDO:1200563", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "片側巨脳症", "nando_label_en": "Hemimegalencephaly", "mondo_id": "MONDO:0020492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5426", "ncbi_id": "5426", "genesymbol": "POLE", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "16762037 | 16762037 | 16762037 | | 10801849,28514442,32296183,33961781 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200406", "nando_id": "NANDO:1200406", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "IMAge症候群", "nando_label_en": "IMAge syndrome", "mondo_id": "MONDO:0013873", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5447", "ncbi_id": "5447", "genesymbol": "POR", "go_terms": "NADPH-hemoprotein reductase activity | flavin adenine dinucleotide binding | protein binding | FMN binding | NADP binding", "go_ids": "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", "go_pmid_ids": "10048323,19448135,2513880 | | 21081644,35271311 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200402", "nando_id": "NANDO:1200402", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "P450酸化還元酵素欠損症", "nando_label_en": "P450 oxidoreductase deficiency", "mondo_id": "MONDO:0013310", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5551", "ncbi_id": "5551", "genesymbol": "PRF1", "go_terms": "pore-forming activity | protein binding | identical protein binding | wide pore channel activity | calcium ion binding", "go_ids": "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", "go_pmid_ids": " | 11911826,25416956,32296183 | 21037563,21685908 | 20038786,20889983,24558045 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200296", "nando_id": "NANDO:1200296", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性再生不良性貧血", "nando_label_en": "Idiopathic aplastic 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| | | 11909529,15696169 | | 23006999 | 11909529,12138178,12612081,14966296,17210636,23006999 | 15592458", "nando": "http://nanbyodata.jp/ontology/NANDO_1200471", "nando_id": "NANDO:1200471", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "関節型若年性特発性関節炎", "nando_label_en": "Articular-type juvenile idiopathic arthritis", "mondo_id": "MONDO:0019433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5949", "ncbi_id": "5949", "genesymbol": "RBP3", "go_terms": "serine-type peptidase activity | retinol binding | retinoid binding | retinal binding | protein binding", "go_ids": "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", "go_pmid_ids": " | | | | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5961", "ncbi_id": "5961", "genesymbol": "PRPH2", "go_terms": "protein homodimerization activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6010", "ncbi_id": "6010", "genesymbol": "RHO", "go_terms": "metal ion binding | G protein-coupled photoreceptor activity | 11-cis retinal binding 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| receptor ligand activity | signaling receptor binding | protein binding | cytokine activity", "go_ids": "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", "go_pmid_ids": " | | 9560343 | 14961121,23438059,29657270,32296183,32814053 | 21525013", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8565", "ncbi_id": "8565", "genesymbol": "YARS1", "go_terms": "tRNA binding | protein binding | interleukin-8 receptor binding | small molecule binding | ATP binding | RNA binding | tyrosine-tRNA ligase activity", "go_ids": 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http://purl.obolibrary.org/obo/GO_0120020 | http://purl.obolibrary.org/obo/GO_0042626", "go_pmid_ids": "16893193 | 16870176 | | 16893193 | | 16870176,17474147,27144356 | 14504269 | 27144356", "nando": "http://nanbyodata.jp/ontology/NANDO_1200394", "nando_id": "NANDO:1200394", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性高コレステロール血症ホモ接合体", "nando_label_en": "Homozygous familial hypercholesterolemia", "mondo_id": "MONDO:0018328", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64241", "ncbi_id": "64241", "genesymbol": "ABCG8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "14504269 | 16893193 | | 16870176,27144356,32296183 | 16893193 | 16870176 | | 27144356", "nando": "http://nanbyodata.jp/ontology/NANDO_1200394", "nando_id": "NANDO:1200394", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性高コレステロール血症ホモ接合体", "nando_label_en": "Homozygous familial hypercholesterolemia", "mondo_id": "MONDO:0018328", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/255738", "ncbi_id": "255738", "genesymbol": "PCSK9", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22848640 | 18039658 | | | 12552133 | | 17461796,18250299,18753623,18799458,22081141,22493497,22580899,22848640,25613181 | 22493497 | 18039658 | 17080197,17452316,22081141,22848640 | 22658674", "nando": "http://nanbyodata.jp/ontology/NANDO_1200394", "nando_id": "NANDO:1200394", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性高コレステロール血症ホモ接合体", "nando_label_en": "Homozygous familial hypercholesterolemia", "mondo_id": "MONDO:0018328", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8822", "ncbi_id": "8822", "genesymbol": "FGF17", "go_terms": "type 2 fibroblast growth factor receptor binding | growth factor activity | protein binding | type 1 fibroblast growth factor receptor binding", "go_ids": "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", "go_pmid_ids": "16384934 | | 32296183 | 16384934", "nando": "http://nanbyodata.jp/ontology/NANDO_1200388", "nando_id": "NANDO:1200388", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴナドトロピン分泌低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/29851", "ncbi_id": "29851", "genesymbol": "ICOS", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "11956294,16951355,18641334,27135603 | 33033255", "nando": "http://nanbyodata.jp/ontology/NANDO_1200344", "nando_id": "NANDO:1200344", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8842", "ncbi_id": "8842", "genesymbol": "PROM1", "go_terms": "cadherin binding | protein binding | actinin binding | cholesterol binding", "go_ids": "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", "go_pmid_ids": "18654668 | 18654668,23084749,24556617 | 18654668 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/144811", "ncbi_id": "144811", "genesymbol": "LACC1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "31978345 | 31978345 | | | 31978345 | 31978345 | 27478939,28514442,31875558,33961781 | 27959965,31978345", "nando": "http://nanbyodata.jp/ontology/NANDO_1200470", "nando_id": "NANDO:1200470", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "全身型若年性特発性関節炎", "nando_label_en": "Systemic juvenile idiopathic arthritis", "mondo_id": "MONDO:0019434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3373", "ncbi_id": "3373", "genesymbol": "HYAL1", "go_terms": "hyaluronan synthase activity | chondroitin hydrolase activity | hyalurononglucosaminidase activity | virus receptor activity", "go_ids": "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", "go_pmid_ids": " | | 11296287,11944887,12084718,17170110,18390475,19478093,20473947,20572808,21695196,21699545,9223416 | 11296287", "nando": "http://nanbyodata.jp/ontology/NANDO_1200115", "nando_id": "NANDO:1200115", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヒアルロニダーゼ欠損症", "nando_label_en": "Hyaluronidase deficiency", "mondo_id": "MONDO:0011093", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3419", "ncbi_id": "3419", "genesymbol": "IDH3A", "go_terms": "isocitrate dehydrogenase (NAD+) activity | protein binding | NAD binding | magnesium ion binding", "go_ids": "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", "go_pmid_ids": "14555658,16737955,17432878,28098230,33349631,4336621 | 14555658,28098230,28514442,30613765,31515270,33961781 | | 28098230", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3420", "ncbi_id": "3420", "genesymbol": "IDH3B", "go_terms": "electron transfer activity | protein binding | magnesium ion binding | NAD binding | isocitrate dehydrogenase (NAD+) activity", "go_ids": "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", "go_pmid_ids": "10601238 | 31515270 | | | 10601238", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3423", "ncbi_id": "3423", "genesymbol": "IDS", "go_terms": "protein binding | calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_1200097", "nando_id": "NANDO:1200097", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Hunter症候群", "nando_label_en": "Hunter syndrome", "mondo_id": "MONDO:0010674", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3458", "ncbi_id": "3458", "genesymbol": "IFNG", "go_terms": "type II interferon receptor binding | cytokine activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005133 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 16914093,26227742 | 11250200,18252829,28514442,33961781,7617032", "nando": "http://nanbyodata.jp/ontology/NANDO_1200296", "nando_id": "NANDO:1200296", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "特発性再生不良性貧血", "nando_label_en": "Idiopathic aplastic anemia", "mondo_id": "MONDO:0012197", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3593", "ncbi_id": "3593", "genesymbol": "IL12B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11023671 | 7527811 | | 10899108,11023671,11114383,12023369,18680750,29997244,7527811 | 11023671,1674604 | 1674604,7584494 | 11114383 | 1674604,9603733 | 1674604 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200251", "nando_id": "NANDO:1200251", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "高安動脈炎", "nando_label_en": "Takayasu arteritis", "mondo_id": "MONDO:0017991", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/567", "ncbi_id": "567", "genesymbol": "B2M", "go_terms": "identical protein binding | MHC class II protein complex binding | peptide antigen binding | structural molecule activity | protein binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200328", "nando_id": "NANDO:1200328", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MHCクラスI欠損症", "nando_label_en": "MHC class I deficiency", "mondo_id": "MONDO:0011476", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/583", "ncbi_id": "583", "genesymbol": "BBS2", "go_terms": "RNA polymerase II-specific DNA-binding transcription factor binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22302990 | 16189514,16327777,17574030,18000879,18762586,20080638,22139371,22500027,25416956,25552655,27173435,28514442,29039417,32296183,33144677,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200431", "nando_id": "NANDO:1200431", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "網膜色素変性症", "nando_label_en": "Retinitis pigmentosa", "mondo_id": "MONDO:0019200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/120227", "ncbi_id": "120227", "genesymbol": "CYP2R1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18511070 | | 18511070 | 18511070 | 18511070 | 15465040,18511070", "nando": "http://nanbyodata.jp/ontology/NANDO_1200782", "nando_id": "NANDO:1200782", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ビタミンD依存症1型", "nando_label_en": "Vitamin D-dependent rickets, type 1", "mondo_id": "MONDO:0009924", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10483", "ncbi_id": "10483", "genesymbol": "SEC23B", "go_terms": "GTPase activator activity | zinc ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | | 16189514,21516116,25416956,26522472,27551091,31515488,32296183,32814053,33961781,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_1200887", "nando_id": "NANDO:1200887", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性赤血球形成異常性貧血 Type II", "nando_label_en": "Congenital dyserythropoietic anemia type II", "mondo_id": "MONDO:0009134", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10522", "ncbi_id": "10522", "genesymbol": "DEAF1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "24726472 | | | | 24726472 | 20368287,21988832,22442688,29636529,30824926,32296183,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200687", "nando_id": "NANDO:1200687", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/90", "ncbi_id": "90", "genesymbol": "ACVR1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 26598555 | 12065756 | 8242742 | 19506109,19736306,8242742 | | 19736306 | 11266516,18436533,21791611,31483918,8242742,8555189 | 26598555 | 12065756 | 8242742 | 12702211 | | 18436533 | 8242742 | 12065756 | 12065756", "nando": "http://nanbyodata.jp/ontology/NANDO_1200871", "nando_id": "NANDO:1200871", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "進行性骨化性線維異形成症", "nando_label_en": "Fibrodysplasia ossificans progressiva", "mondo_id": "MONDO:0007606", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1080", "ncbi_id": "1080", "genesymbol": "CFTR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200921", "nando_id": "NANDO:1200921", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1080", "ncbi_id": "1080", "genesymbol": "CFTR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200922", "nando_id": "NANDO:1200922", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1080", "ncbi_id": "1080", "genesymbol": "CFTR", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0071889 | 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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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201021", "nando_id": "NANDO:1201021", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "膵囊胞線維症", "nando_label_en": "Pancreatic cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22802", "ncbi_id": "22802", "genesymbol": "CLCA4", "go_terms": "metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity", "go_ids": "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", "go_pmid_ids": " | | 10437792 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200922", "nando_id": "NANDO:1200922", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22802", "ncbi_id": "22802", "genesymbol": "CLCA4", "go_terms": "metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity", "go_ids": "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", "go_pmid_ids": " | | 10437792 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201021", "nando_id": "NANDO:1201021", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "膵囊胞線維症", "nando_label_en": "Pancreatic cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1277", "ncbi_id": "1277", "genesymbol": "COL1A1", "go_terms": "protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding", "go_ids": "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", "go_pmid_ids": "19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200646", "nando_id": "NANDO:1200646", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "古典型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, classical type", "mondo_id": "MONDO:0007522", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1277", "ncbi_id": "1277", "genesymbol": "COL1A1", "go_terms": "protease binding | identical protein binding | extracellular matrix structural constituent conferring tensile strength | platelet-derived growth factor binding | metal ion binding | protein binding", "go_ids": "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", "go_pmid_ids": "19932771 | 17211858 | 20551380,25037231,27559042,28327460,28344315,28675934 | 8900172 | | 14749390,18375391,20015075,20541508,25290767,26848503,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200650", "nando_id": "NANDO:1200650", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "多発関節弛緩型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, arthrochalasis type", "mondo_id": "MONDO:0007525", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1278", "ncbi_id": "1278", "genesymbol": "COL1A2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18375391,25416956,26848503,26871637,32095531,32296183 | | 18375391 | | 17211858 | 8900172 | 8982144 | 19932771 | 20551380,25037231,27559042,28327460,28344315,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1200650", "nando_id": "NANDO:1200650", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "多発関節弛緩型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, arthrochalasis type", "mondo_id": "MONDO:0007525", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1278", "ncbi_id": "1278", "genesymbol": "COL1A2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18375391,25416956,26848503,26871637,32095531,32296183 | | 18375391 | | 17211858 | 8900172 | 8982144 | 19932771 | 20551380,25037231,27559042,28327460,28344315,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1201086", "nando_id": "NANDO:1201086", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "心臓弁型エーラス・ダンロス症候群", "nando_label_en": "Cardiac-valvular Ehlers-Danlos syndrome", "mondo_id": "MONDO:0009159", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1289", "ncbi_id": "1289", "genesymbol": "COL5A1", "go_terms": "extracellular matrix structural constituent conferring tensile strength | metal ion binding | heparin binding | protein binding | integrin binding | proteoglycan binding | platelet-derived growth factor binding", "go_ids": "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", "go_pmid_ids": "20551380,25037231,27559042,28327460,28344315,28675934 | | 2203476 | 20979576,28514442,33961781 | 14970208 | 9099729 | 8900172", "nando": "http://nanbyodata.jp/ontology/NANDO_1200646", "nando_id": "NANDO:1200646", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "古典型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, classical type", "mondo_id": "MONDO:0007522", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1290", "ncbi_id": "1290", "genesymbol": "COL5A2", "go_terms": "SMAD binding | metal ion binding | extracellular matrix structural constituent conferring tensile strength", "go_ids": "http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0030020", "go_pmid_ids": " | | 25037231,27068509,27559042,28327460,28344315,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1200646", "nando_id": "NANDO:1200646", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "古典型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, classical type", "mondo_id": "MONDO:0007522", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1501", "ncbi_id": "1501", "genesymbol": "CTNND2", "go_terms": "cadherin binding | protein binding | beta-catenin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013", "go_pmid_ids": " | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484", "nando": "http://nanbyodata.jp/ontology/NANDO_1200684", "nando_id": "NANDO:1200684", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "5p欠失症候群", "nando_label_en": "5p deletion syndrome", "mondo_id": "MONDO:0007404", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1593", "ncbi_id": "1593", "genesymbol": "CYP27A1", "go_terms": "cholesterol 26-hydroxylase activity | cholestanetetraol 26-dehydrogenase activity | vitamin D3 25-hydroxylase activity | steroid hydroxylase activity | iron ion binding | heme binding", "go_ids": "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", "go_pmid_ids": "12077124,9660774 | 11412116 | 15465040 | | | 9660774", "nando": "http://nanbyodata.jp/ontology/NANDO_1200856", "nando_id": "NANDO:1200856", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳腱黄色腫症", "nando_label_en": "Cerebrotendinous xanthomatosis", "mondo_id": "MONDO:0008948", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1594", "ncbi_id": "1594", "genesymbol": "CYP27B1", "go_terms": "calcidiol 1-monooxygenase activity | heme binding | secalciferol 1-monooxygenase activity | iron ion binding", "go_ids": "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", "go_pmid_ids": "15795327,16549446,17023519,22862690,9415400 | | 10518789 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200782", "nando_id": "NANDO:1200782", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ビタミンD依存症1型", "nando_label_en": "Vitamin D-dependent rickets, type 1", "mondo_id": "MONDO:0009924", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1629", "ncbi_id": "1629", "genesymbol": "DBT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22291014,28514442,33961781 | | 3593587 | 19725078 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200791", "nando_id": "NANDO:1200791", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "メープルシロップ尿症", "nando_label_en": "Maple syrup urine disease", "mondo_id": "MONDO:0009563", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1717", "ncbi_id": "1717", "genesymbol": "DHCR7", "go_terms": "7-dehydrocholesterol reductase activity | cholesterol-5,6-oxide hydrolase activity | NADP binding | protein binding", "go_ids": "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", "go_pmid_ids": "38297129,38297130,9465114 | 20615952 | | 25637936,32694168", "nando": "http://nanbyodata.jp/ontology/NANDO_1200961", "nando_id": "NANDO:1200961", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "スミス・レムリ・オピッツ症候群", "nando_label_en": "Smith-lemli-opitz syndrome", "mondo_id": "MONDO:0010035", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/19", "ncbi_id": "19", "genesymbol": "ABCA1", "go_terms": "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 | 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| 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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200854", "nando_id": "NANDO:1200854", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "タンジール病", "nando_label_en": "Tangier disease", "mondo_id": "MONDO:0008783", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3931", "ncbi_id": "3931", "genesymbol": "LCAT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10559507,11966470,26195816,3458198,4335615 | 8016111 | 8016111 | 8016111 | 11435418,14967812,15654758,1587806,17676061,32814053 | 1587806", "nando": "http://nanbyodata.jp/ontology/NANDO_1200852", "nando_id": "NANDO:1200852", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "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", "nando_label_en": "Lecithin cholesterol acyltransferase deficiency", "mondo_id": "MONDO:0009515", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/38", "ncbi_id": "38", "genesymbol": "ACAT1", "go_terms": "coenzyme A binding | C-acetyltransferase activity | cholesterol O-acyltransferase activity | identical protein binding | potassium ion binding | enzyme binding | acetyl-CoA C-acetyltransferase activity", "go_ids": "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", "go_pmid_ids": " | 17371050 | 32944968 | | 17371050 | | 17371050,1979337,8103405", "nando": "http://nanbyodata.jp/ontology/NANDO_1200987", "nando_id": "NANDO:1200987", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "β-ケトチオラーゼ欠損症", "nando_label_en": "Beta-ketothiolase deficiency", "mondo_id": "MONDO:0008760", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10743", "ncbi_id": "10743", "genesymbol": "RAI1", "go_terms": "metal ion binding | protein binding | zinc ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270", "go_pmid_ids": " | 16189514,25416956 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200687", "nando_id": "NANDO:1200687", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6804", "ncbi_id": "6804", "genesymbol": "STX1A", "go_terms": "SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | SNARE binding", "go_ids": "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", "go_pmid_ids": " | 24722188,32296183 | 12730201 | | 10321247,10481273,12730201,15459722,16169070,19748891,20798282,24722188,26635000,30610939,32296183 | 18570918 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200922", "nando_id": "NANDO:1200922", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6804", "ncbi_id": "6804", "genesymbol": "STX1A", "go_terms": "SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | SNARE binding", "go_ids": "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", "go_pmid_ids": " | 24722188,32296183 | 12730201 | | 10321247,10481273,12730201,15459722,16169070,19748891,20798282,24722188,26635000,30610939,32296183 | 18570918 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201021", "nando_id": "NANDO:1201021", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "膵囊胞線維症", "nando_label_en": "Pancreatic cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25861", "ncbi_id": "25861", "genesymbol": "WHRN", "go_terms": "identical protein binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 16434480,17584769,23023331,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200943", "nando_id": "NANDO:1200943", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "アッシャー症候群2型", "nando_label_en": "Usher syndrome Type II", "mondo_id": "MONDO:0016484", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23512", "ncbi_id": "23512", "genesymbol": "SUZ12", "go_terms": "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 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"glycogene": "http://glycosmos.org/glycogene/11330", "ncbi_id": "11330", "genesymbol": "CTRC", "go_terms": "protein binding | serine-type endopeptidase activity | peptidase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008233", "go_pmid_ids": "25416956,28514442,32296183,33961781 | | 8635596", "nando": "http://nanbyodata.jp/ontology/NANDO_1200921", "nando_id": "NANDO:1200921", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23096", "ncbi_id": "23096", "genesymbol": "IQSEC2", "go_terms": "guanyl-nucleotide exchange factor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "26793055 | 30842726,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_1200687", "nando_id": "NANDO:1200687", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23005", "ncbi_id": "23005", "genesymbol": "MAPKBP1", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22700971,25416956,28089251,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1201036", "nando_id": "NANDO:1201036", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ネフロン癆", "nando_label_en": "Nephronophthisis", "mondo_id": "MONDO:0009728", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2006", "ncbi_id": "2006", "genesymbol": "ELN", "go_terms": "extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding", "go_ids": "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", "go_pmid_ids": "27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771", "nando": "http://nanbyodata.jp/ontology/NANDO_1200664", "nando_id": "NANDO:1200664", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2109", "ncbi_id": "2109", "genesymbol": "ETFB", "go_terms": "electron transfer activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0009055 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": 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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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200659", "nando_id": "NANDO:1200659", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィーバー症候群", "nando_label_en": "Weaver syndrome", "mondo_id": "MONDO:0010193", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2200", "ncbi_id": "2200", "genesymbol": "FBN1", "go_terms": "calcium ion binding | hormone activity | heparin binding | protein binding | integrin 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"10075728,12845333,15485867,16199874,17053787,21220346,24000169,35182466,9312027 | 21330551,9858576 | 28473536 | 21330551 | | 9312027 | 29325903 | 24000169 | 9566909 | | | 21330551 | 21220346 | | 21220346,21330551 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200709", "nando_id": "NANDO:1200709", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファロー四徴症", "nando_label_en": "Tetralogy of Fallot", "mondo_id": "MONDO:0008542", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2639", "ncbi_id": "2639", "genesymbol": "GCDH", "go_terms": "glutaryl-CoA dehydrogenase activity | fatty-acyl-CoA binding | flavin adenine dinucleotide binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004361 | http://purl.obolibrary.org/obo/GO_0000062 | http://purl.obolibrary.org/obo/GO_0050660", "go_pmid_ids": "8541831 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200800", "nando_id": "NANDO:1200800", 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http://purl.obolibrary.org/obo/GO_0031683", "go_pmid_ids": "10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201075", "nando_id": "NANDO:1201075", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "偽性副甲状腺機能低下症Ia型", "nando_label_en": "Pseudohypoparathyroidism type 1A", "mondo_id": "MONDO:0007078", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2817", "ncbi_id": "2817", "genesymbol": "GPC1", "go_terms": "fibroblast growth factor binding | copper ion binding | laminin binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 12732622 | | 30282023", "nando": 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26875626,27839871 | 17526495,20890276,23933819,23933820,24504326,26875626,26919761,27288002,28095420,28126851,28242877,29644724,36117210,38307912,38538865", "nando": "http://nanbyodata.jp/ontology/NANDO_1200602", "nando_id": "NANDO:1200602", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ランドウ・クレフナー症候群", "nando_label_en": "Landau-Kleffner syndrome", "mondo_id": "MONDO:0009509", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2969", "ncbi_id": "2969", "genesymbol": "GTF2I", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0003700 | http://purl.obolibrary.org/obo/GO_0005515 | 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"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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200922", "nando_id": "NANDO:1200922", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7040", "ncbi_id": "7040", "genesymbol": "TGFB1", "go_terms": "type II transforming growth factor beta receptor binding | transforming growth factor beta receptor binding | enzyme binding | type III transforming growth 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"transcription coactivator activity | protein binding | zinc ion binding | metal ion binding | ubiquitin protein ligase activity | ubiquitin-protein transferase activity", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200686", "nando_id": "NANDO:1200686", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "アンジェルマン症候群", "nando_label_en": "Angelman syndrome", "mondo_id": "MONDO:0007113", 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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", "go_pmid_ids": "22465068 | 16427310 | 10679295 | 11067884 | | 11006133,9268641 | 18660822,23086448", "nando": "http://nanbyodata.jp/ontology/NANDO_1200709", "nando_id": "NANDO:1200709", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファロー四徴症", "nando_label_en": "Tetralogy of Fallot", "mondo_id": "MONDO:0008542", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9493", "ncbi_id": "9493", "genesymbol": "KIF23", "go_terms": "microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding | microtubule binding", "go_ids": "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", "go_pmid_ids": " | | | 11782313,14676191,15161933,15197175,15778465,16236794,16431929,18201571,18329369,19468300,20451386,22522702,22580824,22750944,26496610,27528609,28514442,32203420,33961781,35271311,36931259,39251607 | 11782313", "nando": "http://nanbyodata.jp/ontology/NANDO_1200888", "nando_id": "NANDO:1200888", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性赤血球形成異常性貧血 Type III", "nando_label_en": "Congenital dyserythropoietic anemia type III", "mondo_id": "MONDO:0007109", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9031", "ncbi_id": "9031", "genesymbol": "BAZ1B", "go_terms": "histone binding | non-membrane spanning protein tyrosine kinase activity | histone kinase activity | zinc ion binding | protein binding | ATP binding | histone H2AXY142 kinase activity", "go_ids": "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", "go_pmid_ids": " | | | 11124022 | 11980720,15543136,16514417,30021884,33961781,35271311 | | 19092802", "nando": "http://nanbyodata.jp/ontology/NANDO_1200664", "nando_id": "NANDO:1200664", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9401", "ncbi_id": "9401", "genesymbol": "RECQL4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200671", "nando_id": "NANDO:1200671", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ロスムンド・トムソン症候群", "nando_label_en": "Rothmund-Thomson syndrome", "mondo_id": "MONDO:0010002", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9401", "ncbi_id": "9401", "genesymbol": "RECQL4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201058", "nando_id": "NANDO:1201058", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ラパデリノ症候群", "nando_label_en": "RAPADILINO syndrome", "mondo_id": "MONDO:0009955", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9401", "ncbi_id": "9401", "genesymbol": "RECQL4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201059", "nando_id": "NANDO:1201059", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "バレー・ジェロルド症候群", "nando_label_en": "Baller-Gerold syndrome", "mondo_id": "MONDO:0009039", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26608", "ncbi_id": "26608", "genesymbol": "TBL2", "go_terms": "protein binding | phosphoprotein binding | protein kinase binding | translation initiation factor binding | RNA binding", "go_ids": "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", "go_pmid_ids": "20562859,33961781 | 25393282 | 25393282 | 25393282 | 22658674", "nando": "http://nanbyodata.jp/ontology/NANDO_1200664", "nando_id": "NANDO:1200664", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/715", "ncbi_id": "715", "genesymbol": "C1R", "go_terms": "serine-type endopeptidase activity | identical protein binding | calcium ion binding | protein binding | serine-type peptidase activity | molecular sequestering activity", "go_ids": "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", "go_pmid_ids": "11823416 | 20970424,31749804 | 20178990 | 12788922,17996945,2387866,28514442,28742139,31749804,33961781 | 2834284 | 20178990", "nando": "http://nanbyodata.jp/ontology/NANDO_1201091", "nando_id": "NANDO:1201091", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "歯周型エーラス・ダンロス症候群", "nando_label_en": "Periodontal Ehlers-Danlos syndrome", "mondo_id": "MONDO:0007527", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/716", "ncbi_id": "716", "genesymbol": "C1S", "go_terms": "protein binding | serine-type endopeptidase activity | calcium ion binding | metal ion binding | identical protein binding", "go_ids": "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", "go_pmid_ids": "12788922,17996945,2387866,25359215,25910212,28514442,28742139,31749804,32296183,33961781 | 11527969 | | | 12788922,2387866", "nando": "http://nanbyodata.jp/ontology/NANDO_1201091", "nando_id": "NANDO:1201091", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "歯周型エーラス・ダンロス症候群", "nando_label_en": "Periodontal Ehlers-Danlos syndrome", "mondo_id": "MONDO:0007527", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7399", "ncbi_id": "7399", "genesymbol": "USH2A", "go_terms": "identical protein binding | collagen binding | protein binding | myosin binding", "go_ids": "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", "go_pmid_ids": " | 14676276 | 16301216,16434480,20440071,23351521 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200943", "nando_id": "NANDO:1200943", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "アッシャー症候群2型", "nando_label_en": "Usher syndrome Type II", "mondo_id": "MONDO:0016484", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51085", "ncbi_id": "51085", "genesymbol": "MLXIPL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "11230181 | | 10780788,11230181 | 18591247 | 21084751 | | 11230181 | | 21084751 | | 10780788 | 11230181", "nando": "http://nanbyodata.jp/ontology/NANDO_1200664", "nando_id": "NANDO:1200664", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7468", "ncbi_id": "7468", "genesymbol": "NSD2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "24595546,33941880 | | | | 19481544,21293379,32296183 | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200683", "nando_id": "NANDO:1200683", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "4p欠失症候群", "nando_label_en": "4p deletion syndrome", "mondo_id": "MONDO:0008684", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7469", "ncbi_id": "7469", "genesymbol": "NELFA", "go_terms": "chromatin binding | protein binding | molecular adaptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0060090", "go_pmid_ids": " | 12612062,20211142,24981860,25416956,26496610,28298427,28514442,32296183,33961781 | 30135580", "nando": "http://nanbyodata.jp/ontology/NANDO_1200683", "nando_id": "NANDO:1200683", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "4p欠失症候群", "nando_label_en": "4p deletion syndrome", "mondo_id": "MONDO:0008684", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/846", "ncbi_id": "846", "genesymbol": "CASR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 27434672 | 27434672 | 34194040 | 16740594,27434672 | 7874174 | 20361938 | 27434672 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200921", "nando_id": "NANDO:1200921", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55746", "ncbi_id": "55746", "genesymbol": "NUP133", "go_terms": "structural constituent of nuclear pore | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017056 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "11684705 | 11564755,15146057,17363900,24315095,24725412,24947832,26411495,26496610,27194810,30179222,31046837,33961781,34819669,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_1200713", "nando_id": "NANDO:1200713", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ギャロウェイ・モワト症候群", "nando_label_en": "Galloway-Mowat syndrome", "mondo_id": "MONDO:0009627", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7461", "ncbi_id": "7461", "genesymbol": "CLIP2", "go_terms": "microtubule binding | microtubule plus-end binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0051010", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200664", "nando_id": "NANDO:1200664", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/53834", "ncbi_id": "53834", "genesymbol": "FGFRL1", "go_terms": "fibroblast growth factor receptor activity | identical protein binding | heparin binding | fibroblast growth factor binding", "go_ids": "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", "go_pmid_ids": "12813049 | 18061161 | 12813049,18061161 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200683", "nando_id": "NANDO:1200683", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "4p欠失症候群", "nando_label_en": "4p deletion syndrome", "mondo_id": "MONDO:0008684", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3000", "ncbi_id": "3000", "genesymbol": "GUCY2D", "go_terms": "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", "go_ids": "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 | 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"go_ids": "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", "go_pmid_ids": " | 24789103 | 26581570 | | | 28473536 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200657", "nando_id": "NANDO:1200657", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "VATER症候群", "nando_label_en": "VATER syndrome", "mondo_id": "MONDO:0008642", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5213", "ncbi_id": "5213", "genesymbol": "PFKM", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721", "nando": "http://nanbyodata.jp/ontology/NANDO_1200823", "nando_id": "NANDO:1200823", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋型糖原病", "nando_label_en": "Muscle glycogen storage disease", "mondo_id": "MONDO:0009295", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5644", "ncbi_id": "5644", "genesymbol": "PRSS1", "go_terms": "metal ion binding | serine-type endopeptidase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004252", "go_pmid_ids": " | 8841182", "nando": "http://nanbyodata.jp/ontology/NANDO_1200921", "nando_id": "NANDO:1200921", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5645", "ncbi_id": "5645", "genesymbol": "PRSS2", "go_terms": "serine-type endopeptidase activity | protein binding | calcium ion binding | serine-type peptidase activity | metalloendopeptidase activity", "go_ids": "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 | 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binding", "go_ids": "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", "go_pmid_ids": " | | 16713569 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200675", "nando_id": "NANDO:1200675", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "鰓耳腎症候群", "nando_label_en": "Branchio-oto-renal syndrome", "mondo_id": "MONDO:0007029", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4070", "ncbi_id": "4070", "genesymbol": "TACSTD2", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "15607035,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1201006", "nando_id": "NANDO:1201006", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "膠様滴状角膜ジストロフィー", "nando_label_en": "Gelatinous drop-like 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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", "go_pmid_ids": "16893193 | 16870176 | | 16893193 | | 16870176,17474147,27144356 | 14504269 | 27144356", "nando": "http://nanbyodata.jp/ontology/NANDO_1200853", "nando_id": "NANDO:1200853", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シトステロール血症", "nando_label_en": "Sitosterolemia", "mondo_id": "MONDO:0008863", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64241", "ncbi_id": "64241", "genesymbol": "ABCG8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "14504269 | 16893193 | | 16870176,27144356,32296183 | 16893193 | 16870176 | | 27144356", "nando": "http://nanbyodata.jp/ontology/NANDO_1200853", "nando_id": "NANDO:1200853", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シトステロール血症", "nando_label_en": "Sitosterolemia", "mondo_id": "MONDO:0008863", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64324", "ncbi_id": "64324", "genesymbol": "NSD1", "go_terms": "histone H4K20 methyltransferase activity | nuclear estrogen receptor binding | chromatin binding | transcription corepressor activity | nuclear androgen receptor binding | nuclear 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"http://nanbyodata.jp/ontology/NANDO_1200678", "nando_id": "NANDO:1200678", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "プラダー・ウィリ症候群", "nando_label_en": "Prader-Willi syndrome", "mondo_id": "MONDO:0008300", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4000", "ncbi_id": "4000", "genesymbol": "LMNA", "go_terms": "structural molecule activity | identical protein binding | protein binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton", "go_ids": "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", "go_pmid_ids": "3453101,8344919 | 25910212 | 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"go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200744", "nando_id": "NANDO:1200744", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "オスラー病", "nando_label_en": "Osler disease", "mondo_id": "MONDO:0019180", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/93183", "ncbi_id": "93183", "genesymbol": "PIGM", "go_terms": "alpha-1,4-mannosyltransferase activity | mannosyltransferase activity | glycolipid mannosyltransferase activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0051751 | http://purl.obolibrary.org/obo/GO_0000030 | http://purl.obolibrary.org/obo/GO_0004376 | 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chaperone activity | ATP-dependent chromatin remodeler activity | DNA binding | DNA clamp loader activity | four-way junction helicase activity", "go_ids": "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", "go_pmid_ids": "22658674,22681889 | 21516116,25416956,29153328,32296183 | | | | | | | | | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200591", "nando_id": "NANDO:1200591", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "レノックス・ガストー症候群", "nando_label_en": "Lennox-Gastaut syndrome", "mondo_id": "MONDO:0016532", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1303", "ncbi_id": "1303", "genesymbol": "COL12A1", "go_terms": "extracellular matrix structural constituent conferring tensile strength", "go_ids": "http://purl.obolibrary.org/obo/GO_0030020", "go_pmid_ids": "1427837,20551380,23979707,25037231,28327460,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1201090", "nando_id": "NANDO:1201090", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ミオパチー型エーラス・ダンロス症候群", "nando_label_en": "Myopathic Ehlers-Danlos syndrome", "mondo_id": "MONDO:0034022", "nando2mondo_match": 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"COMT", "go_terms": "O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding", "go_ids": "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", "go_pmid_ids": "1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200688", "nando_id": "NANDO:1200688", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "22q11.2欠失症候群", "nando_label_en": "22q11.2 deletion syndrome", "mondo_id": "MONDO:0018923", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10297", "ncbi_id": "10297", "genesymbol": "APC2", "go_terms": "protein binding | beta-catenin binding | microtubule binding | 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| 1495999,16437163,17828305,18692472,20802515,29374162,9516124 | 7957082,8649415", "nando": "http://nanbyodata.jp/ontology/NANDO_1200746", "nando_id": "NANDO:1200746", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肺胞蛋白症", "nando_label_en": "Pulmonary alveolar proteinosis", "mondo_id": "MONDO:0012580", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1439", "ncbi_id": "1439", "genesymbol": "CSF2RB", "go_terms": "interleukin-3 receptor activity | cytokine receptor activity | signaling receptor activity | interleukin-5 receptor activity | protein binding | coreceptor activity", "go_ids": "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", "go_pmid_ids": "9410898 | | 9410898 | 9410898 | 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http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042803", "go_pmid_ids": "18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846", "nando": "http://nanbyodata.jp/ontology/NANDO_1200903", "nando_id": "NANDO:1200903", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1910", "ncbi_id": "1910", "genesymbol": "EDNRB", "go_terms": "endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding", "go_ids": "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", "go_pmid_ids": "1713452,19767294,28236341 | 1713452 | | 23597562", "nando": "http://nanbyodata.jp/ontology/NANDO_1200903", "nando_id": "NANDO:1200903", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10555", "ncbi_id": "10555", "genesymbol": "AGPAT2", "go_terms": "1-acylglycerol-3-phosphate O-acyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003841", "go_pmid_ids": "15629135,19075029,21873652,9212163,9242711,9461603", "nando": "http://nanbyodata.jp/ontology/NANDO_1200859", "nando_id": "NANDO:1200859", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性全身性脂肪萎縮症", "nando_label_en": "Generalized congenital lipodystrophy", "mondo_id": "MONDO:0018883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/24", "ncbi_id": "24", "genesymbol": "ABCA4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | 23144455 | 24097981 | | 24097981 | 20404325,29847635,33375396 | | 29847635,33375396 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200933", "nando_id": "NANDO:1200933", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Stargardt病", "nando_label_en": "Stargardt disease", "mondo_id": "MONDO:0019353", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3663", "ncbi_id": "3663", "genesymbol": "IRF5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201010", "nando_id": "NANDO:1201010", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "びまん皮膚硬化型全身性強皮症", "nando_label_en": "Diffuse cutaneous systemic sclerosis", "mondo_id": "MONDO:0016356", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3663", "ncbi_id": "3663", "genesymbol": "IRF5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "23332764 | 25326418 | 25326418 | 22412986 | 28473536 | 12600985 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | 18836453 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201011", "nando_id": "NANDO:1201011", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "限局皮膚硬化型全身性強皮症", "nando_label_en": "Limited cutaneous systemic sclerosis", "mondo_id": "MONDO:0016358", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3736", "ncbi_id": "3736", "genesymbol": "KCNA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10585425 | | 10585425,19912772 | 19912772,8845167 | 11937501,19968958,23903368,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200593", "nando_id": "NANDO:1200593", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3845", "ncbi_id": "3845", "genesymbol": "KRAS", "go_terms": "GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715", "nando": "http://nanbyodata.jp/ontology/NANDO_1200680", "nando_id": "NANDO:1200680", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6792", "ncbi_id": "6792", "genesymbol": "CDKL5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860", "nando": "http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6792", "ncbi_id": "6792", "genesymbol": "CDKL5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860", "nando": "http://nanbyodata.jp/ontology/NANDO_1200593", "nando_id": "NANDO:1200593", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6785", "ncbi_id": "6785", "genesymbol": "ELOVL4", "go_terms": "fatty acid elongase activity | G protein-coupled photoreceptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0009922 | http://purl.obolibrary.org/obo/GO_0008020 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 11138005 | 20937905,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200933", "nando_id": "NANDO:1200933", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Stargardt病", "nando_label_en": "Stargardt disease", "mondo_id": "MONDO:0019353", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/223117", "ncbi_id": "223117", "genesymbol": "SEMA3D", "go_terms": "semaphorin receptor binding | neuropilin binding | chemorepellent activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499", "go_pmid_ids": " | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200903", "nando_id": "NANDO:1200903", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6812", "ncbi_id": "6812", "genesymbol": "STXBP1", "go_terms": "protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding", "go_ids": "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", "go_pmid_ids": " | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6812", "ncbi_id": "6812", "genesymbol": "STXBP1", "go_terms": "protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding", "go_ids": "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", "go_pmid_ids": " | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200593", "nando_id": "NANDO:1200593", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23236", "ncbi_id": "23236", "genesymbol": "PLCB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23236", "ncbi_id": "23236", "genesymbol": "PLCB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200595", "nando_id": "NANDO:1200595", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遊走性焦点発作を伴う乳児てんかん", "nando_label_en": "Epilepsy of infancy with migrating focal seizures", "mondo_id": "MONDO:0017385", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25939", "ncbi_id": "25939", "genesymbol": "SAMHD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318", "nando": "http://nanbyodata.jp/ontology/NANDO_1200996", "nando_id": "NANDO:1200996", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "エカルディ・グティエール症候群", "nando_label_en": "Aicardi-Goutières Syndrome", "mondo_id": "MONDO:0018866", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23522", "ncbi_id": "23522", "genesymbol": "KAT6B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | 11965546 | | | | 10497217,11965546 | 11965546 | | | | | | | | | | | | | | | 11965546 | | 16387653", "nando": "http://nanbyodata.jp/ontology/NANDO_1200681", "nando_id": "NANDO:1200681", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヤング・シンプソン症候群", "nando_label_en": "Young-Simpson syndrome", "mondo_id": "MONDO:0011365", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23389", "ncbi_id": "23389", "genesymbol": "MED13L", "go_terms": "transcription coactivator activity | transcription coregulator activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0003712", "go_pmid_ids": "22249253 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200698", "nando_id": "NANDO:1200698", "nando_category": "指定難病", "nando_category_en": "Designated intractable 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"go_pmid_ids": "18854353 | 18854353 | 22628566 | 15882967 | | | | 16682347,16802858,17577209,21934712,22628566,26496610", "nando": "http://nanbyodata.jp/ontology/NANDO_1200960", "nando_id": "NANDO:1200960", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11152", "ncbi_id": "11152", "genesymbol": "WDR45", "go_terms": "protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding", "go_ids": "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 | 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31439799 | | 11157796,17850748,21446998,31413325 | 7489725 | 17057366 | 10496225,15381419,22658674,22681889 | 17417632 | 11157796 | 12927206,23235829 | 17057366 | 24658146", "nando": "http://nanbyodata.jp/ontology/NANDO_1200692", "nando_id": "NANDO:1200692", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脆弱X症候群", "nando_label_en": "Fragile X syndrome", "mondo_id": "MONDO:0010383", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2353", "ncbi_id": "2353", "genesymbol": "FOS", "go_terms": "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 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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", "go_pmid_ids": "16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914", "nando": "http://nanbyodata.jp/ontology/NANDO_1200591", "nando_id": "NANDO:1200591", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "レノックス・ガストー症候群", "nando_label_en": "Lennox-Gastaut syndrome", "mondo_id": "MONDO:0016532", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2562", "ncbi_id": "2562", "genesymbol": "GABRB3", "go_terms": "identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0030594 | 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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", "go_ids": "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", "go_pmid_ids": "10829012,25242331,31535977,8493557 | 10829012 | 22998873 | | 21994944,23333276,25416956,32296183 | 8493557,8988018 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200903", "nando_id": "NANDO:1200903", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2731", "ncbi_id": "2731", "genesymbol": "GLDC", "go_terms": "glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": " | | 28244183 | | | 2268343 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200984", "nando_id": "NANDO:1200984", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非ケトーシス型高グリシン血症", "nando_label_en": "Nonketotic hyperglycinemia", "mondo_id": "MONDO:0011612", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2778", "ncbi_id": "2778", "genesymbol": "GNAS", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201076", "nando_id": "NANDO:1201076", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "偽性副甲状腺機能低下症Ib型", "nando_label_en": "Pseudohypoparathyroidism type 1B", "mondo_id": "MONDO:0011301", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2778", "ncbi_id": "2778", "genesymbol": "GNAS", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201077", "nando_id": "NANDO:1201077", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "偽性副甲状腺機能低下症Ic型", "nando_label_en": "Pseudohypoparathyroidism type 1C", "mondo_id": "MONDO:0012911", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2812", "ncbi_id": "2812", "genesymbol": "GP1BB", "go_terms": "identical protein binding | transmembrane signaling receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004888 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "18674540 | 3353370 | 11943773,18674540,18789323,4044584", "nando": "http://nanbyodata.jp/ontology/NANDO_1200688", "nando_id": "NANDO:1200688", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "22q11.2欠失症候群", "nando_label_en": "22q11.2 deletion syndrome", "mondo_id": "MONDO:0018923", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2904", "ncbi_id": "2904", "genesymbol": "GRIN2B", "go_terms": "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", "go_ids": "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 | 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http://purl.obolibrary.org/obo/GO_0003779 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802", "go_pmid_ids": "11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247", "nando": "http://nanbyodata.jp/ontology/NANDO_1200863", "nando_id": "NANDO:1200863", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性地中海熱", "nando_label_en": "Familial Mediterranean fever", "mondo_id": "MONDO:0018088", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4297", "ncbi_id": "4297", "genesymbol": "KMT2A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200960", "nando_id": "NANDO:1200960", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4512", "ncbi_id": "4512", "genesymbol": "COX1", "go_terms": "heme binding | metal ion binding | protein binding | cytochrome-c oxidase activity", "go_ids": "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", "go_pmid_ids": " | | 12762840,23260140,26321642,29154948,33961781 | 12140182", "nando": "http://nanbyodata.jp/ontology/NANDO_1200940", "nando_id": "NANDO:1200940", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "レーベル遺伝性視神経症", "nando_label_en": "Leber hereditary optic neuropathy", "mondo_id": "MONDO:0010788", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4540", "ncbi_id": "4540", "genesymbol": "ND5", "go_terms": "NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137", "go_pmid_ids": " | 15250827,3921850", "nando": "http://nanbyodata.jp/ontology/NANDO_1200940", "nando_id": "NANDO:1200940", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "レーベル遺伝性視神経症", "nando_label_en": "Leber hereditary optic neuropathy", "mondo_id": "MONDO:0010788", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4598", "ncbi_id": "4598", "genesymbol": "MVK", "go_terms": "ATP binding | protein binding | mevalonate kinase activity | magnesium ion binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 21044950,32296183 | 10369261,1377680,14680974,14730012,18302342,9325256 | | 16189514,25502805,26871637,31515488,32296183,9325256", "nando": "http://nanbyodata.jp/ontology/NANDO_1200866", "nando_id": "NANDO:1200866", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "高IgD症候群", "nando_label_en": "Hyper IgD syndrome", "mondo_id": "MONDO:0012481", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4720", "ncbi_id": "4720", "genesymbol": "NDUFS2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "30922174 | | 15250827,19463981,19688755,20406883,24089531,24344204,27499296,28514442,32807793,33961781 | | 9647766 | 19725078 | | 22036843,28031252,30922174,9647766,9878551 | 14749350 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200940", "nando_id": "NANDO:1200940", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "レーベル遺伝性視神経症", "nando_label_en": "Leber hereditary optic neuropathy", "mondo_id": "MONDO:0010788", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4893", "ncbi_id": "4893", "genesymbol": "NRAS", "go_terms": "GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding", "go_ids": "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", "go_pmid_ids": "30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200680", "nando_id": "NANDO:1200680", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4915", "ncbi_id": "4915", "genesymbol": "NTRK2", "go_terms": "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 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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", "go_pmid_ids": " | | | 17341134,35384245,35840571 | | | | | 11738045 | | | 15494731 | | 26094765 | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23129", "ncbi_id": "23129", "genesymbol": "PLXND1", "go_terms": "semaphorin receptor activity | protein domain specific binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | 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"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 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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", "go_pmid_ids": " | | | 18348280 | | | | | 14976552 | | | | 14976552 | | | | | | | | 18348280 | | | | 16306228,32707033,36931259 | | 14976552,18348280 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200593", "nando_id": "NANDO:1200593", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9414", "ncbi_id": "9414", "genesymbol": "TJP2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "25468996 | 23885123 | | 23885123 | 8824195 | 21679692 | 15975580,18823282,22665060,23885123 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201046", "nando_id": "NANDO:1201046", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "進行性家族性肝内胆汁うっ滞症4型", "nando_label_en": "Progressive familial intrahepatic cholestasis type 4", "mondo_id": "MONDO:0014381", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/221037", "ncbi_id": 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{ "glycogene": "http://glycosmos.org/glycogene/7353", "ncbi_id": "7353", "genesymbol": "UFD1", "go_terms": "protein binding | cysteine-type deubiquitinase activity | polyubiquitin modification-dependent protein binding | K48-linked polyubiquitin modification-dependent protein binding", "go_ids": "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", "go_pmid_ids": "11574150,17681147,18775313,20414249,21645854,25959826,26712280,32296183,32814053,33961781,35271311 | 9063746 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200688", "nando_id": "NANDO:1200688", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "22q11.2欠失症候群", "nando_label_en": "22q11.2 deletion syndrome", "mondo_id": "MONDO:0018923", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57468", "ncbi_id": "57468", "genesymbol": "SLC12A5", "go_terms": "metal ion binding | potassium:chloride symporter activity | protein kinase binding | ammonium transmembrane transporter activity | chloride transmembrane transporter activity", "go_ids": "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", "go_pmid_ids": " | 12106695 | 24393035 | | 26333769", "nando": "http://nanbyodata.jp/ontology/NANDO_1200595", "nando_id": "NANDO:1200595", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遊走性焦点発作を伴う乳児てんかん", "nando_label_en": "Epilepsy of infancy with migrating focal seizures", "mondo_id": "MONDO:0017385", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9091", "ncbi_id": "9091", "genesymbol": "PIGQ", "go_terms": "protein binding", "go_ids": 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coactivator activity | nucleosome binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 11734557 | | 12200431,33961781,35271311,36950384", "nando": "http://nanbyodata.jp/ontology/NANDO_1200670", "nando_id": "NANDO:1200670", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コフィン・シリス症候群", "nando_label_en": "Coffin-Siris syndrome", "mondo_id": "MONDO:0015452", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57582", "ncbi_id": "57582", "genesymbol": "KCNT1", "go_terms": "metal ion binding | intracellular sodium-activated potassium channel activity | outward rectifier potassium channel activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005228 | http://purl.obolibrary.org/obo/GO_0015271", "go_pmid_ids": " | 37494189 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200595", "nando_id": "NANDO:1200595", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遊走性焦点発作を伴う乳児てんかん", "nando_label_en": "Epilepsy of infancy with migrating focal seizures", "mondo_id": "MONDO:0017385", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/103", "ncbi_id": "103", "genesymbol": "ADAR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_1200996", "nando_id": "NANDO:1200996", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "エカルディ・グティエール症候群", "nando_label_en": "Aicardi-Goutières Syndrome", "mondo_id": "MONDO:0018866", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57697", "ncbi_id": "57697", "genesymbol": "FANCM", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0016887 | 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"go_ids": "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", "go_pmid_ids": "11470797 | 35156780 | 11470797 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201089", "nando_id": "NANDO:1201089", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋拘縮型エーラス・ダンロス症候群", "nando_label_en": "Musculocontractural Ehlers-Danlos syndrome", "mondo_id": "MONDO:0011142", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9126", "ncbi_id": "9126", "genesymbol": "SMC3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200960", "nando_id": "NANDO:1200960", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55209", "ncbi_id": "55209", "genesymbol": "SETD5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | 25416956,32296183 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200960", "nando_id": "NANDO:1200960", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55215", "ncbi_id": "55215", "genesymbol": "FANCI", "go_terms": "DNA binding | DNA polymerase binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0070182 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 19995904 | 17460694,20603015,31240132", "nando": "http://nanbyodata.jp/ontology/NANDO_1200891", "nando_id": "NANDO:1200891", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファンコニ貧血", "nando_label_en": "Fanconi anemia", "mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/165", "ncbi_id": "165", "genesymbol": "AEBP1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 15654748 | | 29606302 | 15654748 | | 20551380,25037231,28327460,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1201085", "nando_id": "NANDO:1201085", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "類古典型エーラス・ダンロス症候群", "nando_label_en": "Classical-like Ehlers-Danlos syndrome", "mondo_id": "MONDO:0054813", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/249", "ncbi_id": "249", "genesymbol": "ALPL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12162492,33821301 | | | 12162492,19874193 | 11395499 | 2220817 | 12162492,2220817 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200656", "nando_id": "NANDO:1200656", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "低ホスファターゼ症", "nando_label_en": "Hypophosphatasia", "mondo_id": "MONDO:0018570", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/275", "ncbi_id": "275", "genesymbol": "AMT", "go_terms": "protein binding | transaminase activity | aminomethyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008483 | http://purl.obolibrary.org/obo/GO_0004047", "go_pmid_ids": "32296183 | | 16051266", "nando": "http://nanbyodata.jp/ontology/NANDO_1200984", "nando_id": "NANDO:1200984", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非ケトーシス型高グリシン血症", "nando_label_en": "Nonketotic hyperglycinemia", "mondo_id": "MONDO:0011612", 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"Homozygous familial hypobetalipoproteinemia 1", "mondo_id": "MONDO:0014252", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/359", "ncbi_id": "359", "genesymbol": "AQP2", "go_terms": "glycerol transmembrane transporter activity | water transmembrane transporter activity | protein binding | water channel activity", "go_ids": "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", "go_pmid_ids": "8584435 | 8584435,9321919 | 25910212,32176498,32296183,36117171 | 11076974,8140421,9829975", "nando": "http://nanbyodata.jp/ontology/NANDO_1200742", "nando_id": "NANDO:1200742", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性腎性尿崩症", "nando_label_en": "Congenital nephrogenic diabetes insipidus", "mondo_id": "MONDO:0016383", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/84823", "ncbi_id": "84823", "genesymbol": "LMNB2", "go_terms": "structural constituent of cytoskeleton | identical protein binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005200 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32296183 | 24981860,26524528,29568061,30021884,32296183,33961781,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_1200862", "nando_id": "NANDO:1200862", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "後天性部分性脂肪萎縮症", "nando_label_en": "Acquired partial lipodystrophy", "mondo_id": "MONDO:0012104", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9051", "ncbi_id": "9051", "genesymbol": "PSTPIP1", "go_terms": "actin filament binding | protein binding | identical protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042802", "go_pmid_ids": " | 11971877,16318909,17964261,18480402,19807924,21516116,24407287,25040622,25416956,25910212,26871637,32296183,35152348,9422760 | 17964261,35152348", "nando": "http://nanbyodata.jp/ontology/NANDO_1200868", "nando_id": "NANDO:1200868", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群", "nando_label_en": "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome", "mondo_id": "MONDO:0011462", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/672", "ncbi_id": "672", "genesymbol": "BRCA1", "go_terms": "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", "go_ids": "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 | 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"http://nanbyodata.jp/ontology/NANDO_1200891", "nando_id": "NANDO:1200891", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファンコニ貧血", "nando_label_en": "Fanconi anemia", "mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/675", "ncbi_id": "675", "genesymbol": "BRCA2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200891", "nando_id": "NANDO:1200891", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファンコニ貧血", "nando_label_en": "Fanconi anemia", "mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7401", "ncbi_id": "7401", "genesymbol": "CLRN1", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", 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17178841,24981860,27705803,32296183,33961781,34667079", "nando": "http://nanbyodata.jp/ontology/NANDO_1200672", "nando_id": "NANDO:1200672", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "歌舞伎症候群", "nando_label_en": "Kabuki syndrome", "mondo_id": "MONDO:0016512", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7466", "ncbi_id": "7466", "genesymbol": "WFS1", "go_terms": "calmodulin binding | calcium-dependent protein binding | ubiquitin protein ligase binding | protein binding | DNA-binding transcription factor binding | proteasome binding | protein carrier chaperone | ATPase binding", "go_ids": "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", "go_pmid_ids": " | | 20160352 | 17947299,21044950,23035048,25274773,32296183,32814053 | | | 20160352 | 17947299", "nando": "http://nanbyodata.jp/ontology/NANDO_1200757", "nando_id": "NANDO:1200757", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウォルフラム症候群", "nando_label_en": "Wolfram syndrome", "mondo_id": "MONDO:0018105", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7508", "ncbi_id": "7508", "genesymbol": "XPC", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200608", "nando_id": "NANDO:1200608", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "色素性乾皮症", "nando_label_en": "Xeroderma pigmentosum", "mondo_id": "MONDO:0019600", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/867", "ncbi_id": "867", "genesymbol": "CBL", "go_terms": "ephrin receptor binding | ubiquitin-protein transferase activity | 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"phospholipid binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "30293840 | 16189514,25416956,30901948,30970241,31515488,31708432,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200859", "nando_id": "NANDO:1200859", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性全身性脂肪萎縮症", "nando_label_en": "Generalized congenital lipodystrophy", "mondo_id": "MONDO:0018883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/950", "ncbi_id": "950", "genesymbol": "SCARB2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200953", "nando_id": "NANDO:1200953", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "進行性ミオクローヌスてんかん", "nando_label_en": "Progressive myoclonus epilepsy", "mondo_id": "MONDO:0020074", "nando2mondo_match": "exactMatch" }, { "glycogene": 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200726", "nando_id": "NANDO:1200726", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "一次性膜性増殖性糸球体腎炎I型", "nando_label_en": "Primary membranoproliferative glomerulonephritis type I", "mondo_id": "MONDO:0014005", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3075", "ncbi_id": "3075", "genesymbol": "CFH", "go_terms": "identical protein binding | complement component C3b binding | protein binding | heparan sulfate proteoglycan binding | heparin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001851 | http://purl.obolibrary.org/obo/GO_0005515 | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200859", "nando_id": "NANDO:1200859", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性全身性脂肪萎縮症", "nando_label_en": "Generalized congenital lipodystrophy", "mondo_id": "MONDO:0018883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5573", "ncbi_id": "5573", "genesymbol": "PRKAR1A", "go_terms": "cAMP binding | protein domain specific binding | protein binding | cAMP-dependent protein kinase inhibitor activity | ubiquitin 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"http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6495", "ncbi_id": "6495", "genesymbol": "SIX1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_1990837 | http://purl.obolibrary.org/obo/GO_0000981 | 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"genesymbol": "SKI", "go_terms": "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", "go_ids": "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 | 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"go_pmid_ids": "12917342 | | 8804307 | 12917342,15985610,16189514,18303029,21516116,21988832,24421395,24434208,24981860,25416956,31515488,32296183,32459350,32814053,33961781,34591612,35271311 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200670", "nando_id": "NANDO:1200670", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コフィン・シリス症候群", "nando_label_en": "Coffin-Siris syndrome", "mondo_id": "MONDO:0015452", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6605", "ncbi_id": "6605", "genesymbol": "SMARCE1", "go_terms": "nuclear receptor binding | chromatin binding | nucleosomal DNA binding | transcription coactivator activity | DNA binding | N-acetyltransferase activity | protein binding | RNA binding", "go_ids": "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 | 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"genesymbol": "SOS1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 9790532 | 27056844 | 1371879,16483568,7731718 | 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"go_pmid_ids": " | | 14679214,17474147,19380743,20936779,21706016,21988832,28514442,31980649,33961781,7629138", "nando": "http://nanbyodata.jp/ontology/NANDO_1200680", "nando_id": "NANDO:1200680", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6709", "ncbi_id": "6709", "genesymbol": "SPTAN1", "go_terms": "cadherin binding | calcium ion binding | actin filament binding | structural constituent of cytoskeleton | protein binding | calmodulin binding | actin binding", "go_ids": "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", "go_pmid_ids": "25468996 | | | 2307671 | 12571280,12820899,15328537,16336193,17043677,19102630,20706999,29961565,30021884,31413325,35271311 | | 2307671", "nando": "http://nanbyodata.jp/ontology/NANDO_1200592", "nando_id": "NANDO:1200592", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウエスト症候群", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64324", "ncbi_id": "64324", "genesymbol": "NSD1", "go_terms": "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 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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", "go_pmid_ids": "22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536", "nando": "http://nanbyodata.jp/ontology/NANDO_1200593", "nando_id": "NANDO:1200593", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/29072", "ncbi_id": "29072", "genesymbol": "SETD2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 28753426 | 27518565 | 17500595,19141475,21988832,28753426,36537238 | | | 19141475,23043551,23325844,23622243,24843002,26002201,27474439,28753426", "nando": "http://nanbyodata.jp/ontology/NANDO_1200679", "nando_id": "NANDO:1200679", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ソトス症候群", "nando_label_en": "Sotos syndrome", "mondo_id": "MONDO:0019349", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/29940", "ncbi_id": "29940", "genesymbol": "DSE", "go_terms": "chondroitin-glucuronate 5-epimerase activity | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0047757 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": "16505484 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201089", "nando_id": "NANDO:1201089", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋拘縮型エーラス・ダンロス症候群", "nando_label_en": "Musculocontractural Ehlers-Danlos syndrome", "mondo_id": "MONDO:0011142", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22901", "ncbi_id": "22901", "genesymbol": "ARSG", "go_terms": "arylsulfatase activity | metal ion binding | N-sulfoglucosamine-3-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004065 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0033889", "go_pmid_ids": "12461688,16174644,18283100,29300381 | | 22689975", "nando": "http://nanbyodata.jp/ontology/NANDO_1200944", "nando_id": "NANDO:1200944", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "アッシャー症候群3型", "nando_label_en": "Usher syndrome 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"MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8526", "ncbi_id": "8526", "genesymbol": "DGKE", "go_terms": "ATP-dependent diacylglycerol kinase activity | zinc ion binding | kinase activity | ATP binding", "go_ids": "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", "go_pmid_ids": "15544348,18004883,19744926,22108654 | | 18004883 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200726", "nando_id": "NANDO:1200726", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "一次性膜性増殖性糸球体腎炎I型", "nando_label_en": "Primary membranoproliferative glomerulonephritis type I", "mondo_id": "MONDO:0014005", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8788", "ncbi_id": "8788", "genesymbol": "DLK1", "go_terms": "protein binding | calcium ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509", "go_pmid_ids": "32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200685", "nando_id": "NANDO:1200685", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "第14番染色体父親性ダイソミー症候群", "nando_label_en": "Paternal uniparental disomy of chromosome 14", "mondo_id": "MONDO:0011975", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8647", "ncbi_id": "8647", "genesymbol": "ABCB11", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22262466,24711118,32203132 | | 22262466,32296183 | | 20010382,20398791,29507376 | 18245269 | 15791618,15901796,18985798,32203132", "nando": "http://nanbyodata.jp/ontology/NANDO_1201044", "nando_id": "NANDO:1201044", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "進行性家族性肝内胆汁うっ滞症2型", "nando_label_en": "Progressive familial intrahepatic cholestasis type 2", "mondo_id": "MONDO:0011156", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8514", "ncbi_id": "8514", "genesymbol": "KCNAB2", "go_terms": "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)", "go_ids": "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", "go_pmid_ids": "21357749,32814053,33961781 | 7649300 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200682", "nando_id": "NANDO:1200682", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "1ｐ36欠失症候群", "nando_label_en": "1p36 deletion syndrome", "mondo_id": "MONDO:0011929", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4089", "ncbi_id": "4089", "genesymbol": "SMAD4", "go_terms": "DNA-binding transcription factor activity, RNA polymerase II-specific | protein homodimerization activity | metal ion binding | identical protein 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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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200744", "nando_id": "NANDO:1200744", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "オスラー病", "nando_label_en": "Osler disease", "mondo_id": "MONDO:0019180", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8085", "ncbi_id": "8085", "genesymbol": "KMT2D", "go_terms": "histone H3K4 monomethyltransferase activity | metal ion binding | transcription cis-regulatory region 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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 | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201160", "nando_id": "NANDO:1201160", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファイファー症候群1型", "nando_label_en": "Pfeiffer syndrome type 1", "mondo_id": "MONDO:0019659", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2263", "ncbi_id": "2263", "genesymbol": "FGFR2", "go_terms": "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 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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", "go_ids": "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 | 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"genesymbol": "OCRL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 12915445 | | | | 12915445,16902405,19536138,21233288,21378754,22543976,25107275,25869668,26496610,26824392,27107012,28514442,29125462,32296183,33961781,35271311 | 12915445 | | 1321346,25869668 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201116", "nando_id": "NANDO:1201116", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ロウ症候群", "nando_label_en": "Lowe syndrome", "mondo_id": "MONDO:0010645", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7046", "ncbi_id": "7046", "genesymbol": "TGFBR1", "go_terms": "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 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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", "go_pmid_ids": " | | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1201159", "nando_id": "NANDO:1201159", "nando_category": "指定難病", "nando_category_en": 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http://purl.obolibrary.org/obo/GO_0034714", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_1201159", "nando_id": "NANDO:1201159", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ロイス・ディーツ症候群", "nando_label_en": "Loeys–Dietz syndrome", "mondo_id": "MONDO:0018954", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7056", "ncbi_id": "7056", "genesymbol": "THBD", "go_terms": "calcium ion binding | transmembrane signaling receptor activity | protein binding | signaling receptor activity", "go_ids": "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", "go_pmid_ids": " | | 14691232,17379830,32296183 | 10761923", "nando": "http://nanbyodata.jp/ontology/NANDO_1201115", "nando_id": "NANDO:1201115", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "TM/TAFI 異常症", "nando_label_en": "Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor", "mondo_id": "MONDO:0013775", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/950", "ncbi_id": "950", "genesymbol": "SCARB2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2100237", "nando_id": "NANDO:2100237", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "進行性ミオクローヌスてんかん", "nando_label_en": "Progressive myoclonus epilepsy", "mondo_id": "MONDO:0020074", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5054", "ncbi_id": "5054", "genesymbol": "SERPINE1", "go_terms": "protease binding | protein binding | signaling receptor binding | serine-type endopeptidase inhibitor activity", "go_ids": "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", "go_pmid_ids": "12114510,15853774,2503541,8508955,8626514 | 16272158,22449964,25416956,28296156,32296183,33961781 | 8626514 | 1695900,8508955", "nando": "http://nanbyodata.jp/ontology/NANDO_1201113", "nando_id": "NANDO:1201113", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "PAI-1 欠乏症", "nando_label_en": "PAI-1 deficiency", "mondo_id": "MONDO:0013227", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5345", "ncbi_id": "5345", "genesymbol": "SERPINF2", "go_terms": "protein homodimerization activity | serine-type endopeptidase inhibitor activity | endopeptidase inhibitor activity | protein binding | protease binding", "go_ids": "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", "go_pmid_ids": "134998 | 12878203,134998 | 7679575 | 12878203,14687906 | 134998,15853774,17317851,6980881,7679575", "nando": "http://nanbyodata.jp/ontology/NANDO_1201114", "nando_id": "NANDO:1201114", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "α2-PI 欠乏症", "nando_label_en": "α2-plasmin inhibitor deficiency", "mondo_id": "MONDO:0009883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4001", "ncbi_id": "4001", "genesymbol": "LMNB1", "go_terms": "phospholipase binding | structural constituent of nuclear lamina | structural constituent of cytoskeleton | sequence-specific double-stranded DNA binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 7557986 | | | 21346760,21988832,25158218,26496610,26524528,29568061,29997244,30021884,31467278,32296183,32814053,33961781,35271311,37398436", "nando": "http://nanbyodata.jp/ontology/NANDO_1201107", "nando_id": "NANDO:1201107", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "LMNB1 関連大脳白質脳症", "nando_label_en": "Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy", "mondo_id": "MONDO:0008215", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10568", "ncbi_id": "10568", "genesymbol": "SLC34A2", "go_terms": "phosphate ion binding | sodium:phosphate symporter activity | protein binding | sodium ion binding", "go_ids": "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", "go_pmid_ids": "12488042 | 10329428,10610722,12488042 | 32296183 | 12488042", "nando": "http://nanbyodata.jp/ontology/NANDO_2200202", "nando_id": "NANDO:2200202", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肺胞微石症", "nando_label_en": "Pulmonary alveolar microlithiasis", "mondo_id": "MONDO:0009928", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/58", "ncbi_id": "58", "genesymbol": "ACTA1", "go_terms": "ATP binding | hydrolase activity | ADP binding | myosin binding | structural constituent of cytoskeleton | protein binding", "go_ids": "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", "go_pmid_ids": "10508519 | | 10508519 | 10508519 | 10508519 | 12849983,18835984,28514442,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200483", "nando_id": "NANDO:1200483", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性筋線維タイプ不均等症", "nando_label_en": "Congenital fiber-type disproportion myopathy", "mondo_id": "MONDO:0009711", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/70", "ncbi_id": "70", "genesymbol": "ACTC1", "go_terms": "protein binding | microfilament motor activity | hydrolase activity | myosin binding | ATP binding", "go_ids": "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", "go_pmid_ids": "30021884,33961781 | 16611632,17765196 | | 16611632,19799913 | 16611632", "nando": "http://nanbyodata.jp/ontology/NANDO_2200229", "nando_id": "NANDO:2200229", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肥大型心筋症", "nando_label_en": "Hypertrophic cardiomyopathy", "mondo_id": "MONDO:0005045", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10128", "ncbi_id": "10128", "genesymbol": "LRPPRC", "go_terms": "actin filament binding | single-stranded DNA binding | protein binding | microtubule binding | beta-tubulin binding | ubiquitin protein ligase binding | RNA binding | mRNA 3'-UTR binding", "go_ids": "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", "go_pmid_ids": "12762840 | | 15161933,15907802,17050673,19262567,22045337,25959826,26496610,33961781,36931259 | 12762840 | 12762840 | 19725078 | 12832482,22658674,22681889 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200175", "nando_id": "NANDO:1200175", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "リー脳症", "nando_label_en": "Leigh's encephalomyelopathy", "mondo_id": "MONDO:0009723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1080", "ncbi_id": "1080", "genesymbol": "CFTR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200205", "nando_id": "NANDO:2200205", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1103", "ncbi_id": "1103", "genesymbol": "CHAT", "go_terms": "protein binding | choline O-acetyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004102", "go_pmid_ids": "32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201057", "nando_id": "NANDO:1201057", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "発作性無呼吸を伴う先天性筋無力症", "nando_label_en": "Congenital myasthenic syndrome with episodic apnoea", "mondo_id": "MONDO:0009689", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22802", "ncbi_id": "22802", "genesymbol": "CLCA4", "go_terms": "metal ion binding | metalloendopeptidase activity | chloride channel activity | intracellular calcium activated chloride channel activity", "go_ids": "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", "go_pmid_ids": " | | 10437792 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200205", "nando_id": "NANDO:2200205", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1188", "ncbi_id": "1188", "genesymbol": "CLCNKB", "go_terms": "voltage-gated chloride channel activity | metal ion binding | chloride channel activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | 12111250 | 12111250", "nando": "http://nanbyodata.jp/ontology/NANDO_2200145", "nando_id": "NANDO:2200145", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ギッテルマン症候群", "nando_label_en": "Gitelman syndrome", "mondo_id": "MONDO:0009904", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/285362", "ncbi_id": "285362", "genesymbol": "SUMF1", "go_terms": "oxidoreductase activity | protein binding | cupric ion binding | formylglycine-generating oxidase activity | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 15962010,28514442,33961781 | 25931126 | 21224894,25931126 | 15962010", "nando": "http://nanbyodata.jp/ontology/NANDO_1200083", "nando_id": "NANDO:1200083", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "マルチプルサルファターゼ欠損症", "nando_label_en": "Multiple sulfatase deficiency", "mondo_id": "MONDO:0010088", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10382", "ncbi_id": "10382", "genesymbol": "TUBB4A", "go_terms": "GTP binding | protein binding | structural constituent of cytoskeleton | calcium ion binding | GTPase activity", "go_ids": "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", "go_pmid_ids": " | 20195357,24275654,31046837 | | 10211825 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200515", "nando_id": "NANDO:1200515", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT4ジストニア", "nando_label_en": "Dystonia 4", "mondo_id": "MONDO:0007493", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1371", "ncbi_id": "1371", "genesymbol": "CPOX", "go_terms": "structural constituent of eye lens | coproporphyrinogen oxidase activity | protein homodimerization activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005212 | http://purl.obolibrary.org/obo/GO_0004109 | http://purl.obolibrary.org/obo/GO_0042803", "go_pmid_ids": " | 7987309 | 16176984", "nando": "http://nanbyodata.jp/ontology/NANDO_1200813", "nando_id": "NANDO:1200813", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性コプロポルフィリン症", "nando_label_en": "Hereditary coproporphyria", "mondo_id": "MONDO:0007369", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1373", "ncbi_id": "1373", "genesymbol": "CPS1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 26592762 | 20031578 | 6249820,8486760,9711878 | 26592762 | | | | 12620389,15161933,20618440 | 26592762 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200803", "nando_id": "NANDO:1200803", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "CPSI欠損症", "nando_label_en": "Carbamoyl phosphate synthetase I deficiency", "mondo_id": "MONDO:0009376", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1374", "ncbi_id": "1374", "genesymbol": "CPT1A", "go_terms": "protein-macromolecule adaptor activity | identical protein binding | carnitine O-palmitoyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0030674 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0004095", "go_pmid_ids": "38016475 | | 11350182,14517221,7892212,9691089", "nando": "http://nanbyodata.jp/ontology/NANDO_1200970", "nando_id": "NANDO:1200970", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "カルニチンパルミトイルトランスフェラーゼI欠損症", "nando_label_en": "Carnitine palmitoyltransferase I deficiency", "mondo_id": "MONDO:0009705", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1476", "ncbi_id": "1476", "genesymbol": "CSTB", "go_terms": "cysteine-type endopeptidase inhibitor activity | protease binding | RNA binding | endopeptidase inhibitor activity", "go_ids": "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", "go_pmid_ids": "3488317,6203523 | 11514663,6203523 | 22658674 | 3053245", "nando": "http://nanbyodata.jp/ontology/NANDO_1200954", "nando_id": "NANDO:1200954", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウンフェルリヒト・ルントボルグ病", "nando_label_en": "Unverricht-Lundborg disease", "mondo_id": "MONDO:0009698", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1636", "ncbi_id": "1636", "genesymbol": "ACE", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200121", "nando_id": "NANDO:2200121", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "IgA腎症", "nando_label_en": "IgA nephropathy", "mondo_id": "MONDO:0005342", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1674", "ncbi_id": "1674", "genesymbol": "DES", "go_terms": "cytoskeletal protein binding | identical protein binding | structural constituent of cytoskeleton | protein binding", "go_ids": "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", "go_pmid_ids": "11309420 | 21135508,32296183 | | 11353857,16923132,20706999,21135508,23615443,24940650,25416956,26816005,26871637,27107012,27733623,28470624,28514442,32296183,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200232", "nando_id": "NANDO:2200232", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "拡張型心筋症", "nando_label_en": "Dilated cardiomyopathy", "mondo_id": 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18668123,23624386,23637801,28734930 | | 10692483,12297500,17380124,32493513 | 12297500 | 2531656,8301582 | | | 33571431 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200522", "nando_id": "NANDO:1200522", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT11ジストニア", "nando_label_en": "Dystonia 11", "mondo_id": "MONDO:0000903", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1861", "ncbi_id": "1861", "genesymbol": "TOR1A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "15505207,24930953 | 10814722 | 15147511,15505207,15767459,18167355,18827015,21102408,23569223,25416956,25910212,32296183,32814053,33961781 | 23569223 | | 20015956,24930953 | | 14970196 | 16361107,18827015", "nando": "http://nanbyodata.jp/ontology/NANDO_1200512", "nando_id": "NANDO:1200512", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT1ジストニア", "nando_label_en": "Dystonia 1", "mondo_id": "MONDO:0007492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1861", "ncbi_id": "1861", "genesymbol": "TOR1A", "go_terms": "ATP-dependent protein folding chaperone | unfolded protein binding | protein binding | ATP hydrolysis activity | ATP binding | identical protein binding | misfolded protein binding | kinesin binding | 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activity | protein binding | voltage-gated potassium channel activity", "go_ids": "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", "go_pmid_ids": "12954870 | | | | 20533308 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200503", "nando_id": "NANDO:1200503", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性低カリウム性周期性四肢麻痺", "nando_label_en": "Hereditary hypokalemic periodic paralysis", "mondo_id": "MONDO:0008223", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6804", "ncbi_id": "6804", "genesymbol": "STX1A", "go_terms": "SNAP receptor activity | identical protein binding | kinase binding | calcium channel inhibitor activity | protein binding | chloride channel inhibitor activity | 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"http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129", "go_pmid_ids": "23260140,26321642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200175", "nando_id": "NANDO:1200175", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "リー脳症", "nando_label_en": "Leigh's encephalomyelopathy", "mondo_id": "MONDO:0009723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23090", "ncbi_id": "23090", "genesymbol": "ZNF423", "go_terms": "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", "go_ids": "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 | 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"nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "顔面肩甲上腕型筋ジストロフィー", "nando_label_en": "Facioscapulohumeral muscular dystrophy", "mondo_id": "MONDO:0001347", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23005", "ncbi_id": "23005", "genesymbol": "MAPKBP1", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22700971,25416956,28089251,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200140", "nando_id": "NANDO:2200140", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ネフロン癆", "nando_label_en": "Nephronophthisis", "mondo_id": "MONDO:0009728", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2212", "ncbi_id": "2212", "genesymbol": "FCGR2A", "go_terms": "IgG binding | protein binding | IgG receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019770", "go_pmid_ids": " | 25416956,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200205", "nando_id": "NANDO:2200205", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "嚢胞性線維症", "nando_label_en": "Cystic fibrosis", "mondo_id": "MONDO:0009061", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2218", "ncbi_id": "2218", "genesymbol": "FKTN", "go_terms": "phosphotransferase activity, for other substituted phosphate groups | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0016780 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "26923585,27194101,29477842 | 17034757,27601598,28514442,29477842,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200494", "nando_id": "NANDO:1200494", "nando_category": "指定難病", "nando_category_en": 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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", "go_ids": "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 | 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protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0015234 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200175", "nando_id": "NANDO:1200175", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "リー脳症", "nando_label_en": "Leigh's encephalomyelopathy", "mondo_id": "MONDO:0009723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/950", "ncbi_id": "950", "genesymbol": "SCARB2", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0051087 | http://purl.obolibrary.org/obo/GO_0042803 | 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"protein-containing complex binding | protein binding | zinc ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270", "go_pmid_ids": " | 14645515,16417580,16442230,17030191,18922795,18976727,25416956,25910212,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200954", "nando_id": "NANDO:1200954", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウンフェルリヒト・ルントボルグ病", "nando_label_en": "Unverricht-Lundborg disease", "mondo_id": "MONDO:0009698", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/378884", "ncbi_id": "378884", "genesymbol": "NHLRC1", "go_terms": "zinc ion binding | protein binding | ubiquitin protein ligase activity | translation repressor activity | metal ion binding | ubiquitin-protein transferase activity", "go_ids": "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", "go_pmid_ids": " | 15930137,17908927,21505799,22578008,22961547,33961781 | | | | 15930137,18070875", "nando": "http://nanbyodata.jp/ontology/NANDO_1200955", "nando_id": "NANDO:1200955", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ラフォラ病", "nando_label_en": "Lafora disease", "mondo_id": "MONDO:0009697", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3077", "ncbi_id": "3077", "genesymbol": "HFE", "go_terms": "peptide antigen binding | beta-2-microglobulin binding | co-receptor binding | transferrin receptor binding | signaling receptor binding | protein binding", "go_ids": "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", "go_pmid_ids": "8696333,9546397 | 9465039,9546397,9990067 | 22728873 | 18353247,22728873,9465039,9546397,9990067 | 10638746,24904118 | 14691533,15880641,15965644,20133674,20618438,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200814", "nando_id": "NANDO:1200814", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "異型ポルフィリン症", "nando_label_en": "Variegate porphyria", "mondo_id": "MONDO:0008297", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/427", "ncbi_id": "427", "genesymbol": "ASAH1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22927646 | 10610716,11451951,12764132,12815059,7744740 | 15655246 | 22927646 | | 22927646,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200086", "nando_id": "NANDO:1200086", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ファーバー病", "nando_label_en": "Farber disease", "mondo_id": "MONDO:0009218", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/445", "ncbi_id": "445", "genesymbol": "ASS1", "go_terms": "protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity", "go_ids": "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", "go_pmid_ids": "12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870", "nando": "http://nanbyodata.jp/ontology/NANDO_1200805", "nando_id": "NANDO:1200805", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "古典型シトルリン血症", "nando_label_en": "Classic citrullinemia", "mondo_id": "MONDO:0008988", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5048", "ncbi_id": "5048", "genesymbol": "PAFAH1B1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11889140 | 8028668 | 10729324 | 10931877,11163258,11940666,16754861,20133715,20360068,22159412,27173435,28514442,29961565,31413325,33961781,38547289 | | | | 11056532 | | 8028668", "nando": "http://nanbyodata.jp/ontology/NANDO_1201083", "nando_id": "NANDO:1201083", "nando_category": "指定難病", "nando_category_en": 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"exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5213", "ncbi_id": "5213", "genesymbol": "PFKM", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721", "nando": "http://nanbyodata.jp/ontology/NANDO_1200829", "nando_id": "NANDO:1200829", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋型糖原病VII型", "nando_label_en": "Glycogen storage diseases type VII", "mondo_id": "MONDO:0009295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5224", "ncbi_id": "5224", "genesymbol": "PGAM2", "go_terms": "bisphosphoglycerate mutase activity | identical protein binding | phosphoglycerate mutase activity | 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity | protein binding | hydrolase activity", "go_ids": "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", "go_pmid_ids": " | 32296183 | 4827367,6262916 | | 28514442,32296183,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200832", "nando_id": "NANDO:1200832", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋型糖原病X型", "nando_label_en": "Glycogen storage diseases type X", "mondo_id": "MONDO:0009865", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5376", "ncbi_id": "5376", "genesymbol": "PMP22", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "12107182,14709540,25416956,25910212,32296183,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200030", "nando_id": "NANDO:1200030", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "慢性炎症性脱髄性多発神経炎", "nando_label_en": "Chronic inflammatory demyelinating polyneuropathy", "mondo_id": "MONDO:0007691", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5052", "ncbi_id": "5052", "genesymbol": "PRDX1", "go_terms": "cadherin binding | identical protein binding | thioredoxin peroxidase activity | protein binding | peroxidase activity | RNA binding", "go_ids": "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", "go_pmid_ids": "25468996 | | 18606987 | 15105503,17909037,18172504,19369943,21044950,21969592,21988832,23386615,27607350,28671123,32814053,33961781 | 11986303 | 22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_1201040", "nando_id": "NANDO:1201040", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ホモシスチン尿症II型", "nando_label_en": "Homocystinuria type 2", "mondo_id": "MONDO:0010184", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51422", "ncbi_id": "51422", "genesymbol": "PRKAG2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279", "nando": 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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", "go_pmid_ids": "10698692 | 32814053 | 15877279 | 15877279 | 24563466 | 15877279 | 15877279 | | 17255938 | | 15877279", "nando": "http://nanbyodata.jp/ontology/NANDO_2200229", "nando_id": "NANDO:2200229", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肥大型心筋症", "nando_label_en": "Hypertrophic cardiomyopathy", "mondo_id": "MONDO:0005045", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5836", "ncbi_id": "5836", "genesymbol": "PYGL", "go_terms": "protein binding | identical protein binding | AMP binding | purine nucleobase binding | SHG alpha-glucan phosphorylase activity | glycogen 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" | 1150650,8316268 | | | | 24722188,25416956,31515488,32296183,33961781,36217029 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200828", "nando_id": "NANDO:1200828", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋型糖原病V型", "nando_label_en": "Glycogen storage diseases type V", "mondo_id": "MONDO:0009293", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6261", "ncbi_id": "6261", "genesymbol": "RYR1", "go_terms": "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", "go_ids": "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 | 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"http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248", "go_pmid_ids": "30190309 | 12766226,30190309", "nando": "http://nanbyodata.jp/ontology/NANDO_1200504", "nando_id": "NANDO:1200504", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性高カリウム性周期性四肢麻痺", "nando_label_en": "Hereditary hyperkalemic periodic paralysis", "mondo_id": "MONDO:0008224", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6331", "ncbi_id": "6331", "genesymbol": "SCN5A", "go_terms": "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 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dehydrogenase (ubiquinone) activity | electron transfer activity | protein binding", "go_ids": "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", "go_pmid_ids": " | 24781757,7550341 | | 15961414,19628817,19688755,23747254,24606901,26496610,26618866,26749241,28330616,28514442,29924966,31324722,33961781,35156780", "nando": "http://nanbyodata.jp/ontology/NANDO_1200175", "nando_id": "NANDO:1200175", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "リー脳症", "nando_label_en": "Leigh's encephalomyelopathy", "mondo_id": "MONDO:0009723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8910", "ncbi_id": "8910", "genesymbol": "SGCE", "go_terms": "", "go_ids": "", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200522", "nando_id": "NANDO:1200522", "nando_category": "指定難病", 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"24431302,8647801 | | 19561609 | 19561609 | 11472839,8906787 | | | 19561609,29954986,29995851,30139912 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201073", "nando_id": "NANDO:1201073", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "裂脳症", "nando_label_en": "Schizencephaly", "mondo_id": "MONDO:0010011", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6559", "ncbi_id": "6559", "genesymbol": "SLC12A3", "go_terms": "ATP binding | sodium:potassium:chloride symporter activity | sodium:chloride symporter activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | 18270262,36351028,36792826 | 22406640", "nando": "http://nanbyodata.jp/ontology/NANDO_2200145", "nando_id": "NANDO:2200145", "nando_category": "小児慢性特定疾病", 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http://purl.obolibrary.org/obo/GO_0015199 | http://purl.obolibrary.org/obo/GO_0015226", "go_pmid_ids": "15523054 | 15238359 | | | 17509700,20722056,23877104,33334877 | 10454528,10966938,23567998,9618255 | 15523054,28514442,32296183,33961781 | 33124720 | 10454528,10966938,17855766,9685390,9916797", "nando": "http://nanbyodata.jp/ontology/NANDO_1200973", "nando_id": "NANDO:1200973", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "カルニチントランスポーター欠損症", "nando_label_en": "Systemic primary carnitine deficiency", "mondo_id": "MONDO:0008919", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8803", "ncbi_id": "8803", "genesymbol": "SUCLA2", "go_terms": "succinate-CoA ligase (ADP-forming) activity | ATP binding | magnesium ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004775 | http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0000287 | 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binding | DNA-binding transcription factor binding", "go_ids": "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", "go_pmid_ids": "12816872 | | | 12816872 | | | | | 12816872 | | | | | 19049980,21516122,30462309 | 25578880", "nando": "http://nanbyodata.jp/ontology/NANDO_2200231", "nando_id": "NANDO:2200231", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic 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kinase A regulatory subunit binding | guanyl-nucleotide exchange factor activity | protein binding | GABA receptor binding", "go_ids": "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", "go_pmid_ids": " | 12571360 | 10212200,15385626 | 10716990,15705715,16866877,19332778,22084092,33961781,35271311 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201079", "nando_id": "NANDO:1201079", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳室周囲結節状異所性灰白質", "nando_label_en": "Periventricular nodular heterotopia", "mondo_id": "MONDO:0020341", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10382", "ncbi_id": "10382", "genesymbol": "TUBB4A", "go_terms": "GTP binding | protein binding | structural constituent of cytoskeleton | calcium ion binding | GTPase activity", "go_ids": "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", "go_pmid_ids": " | 20195357,24275654,31046837 | | 10211825 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200578", "nando_id": "NANDO:1200578", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "基底核および小脳萎縮を伴う髄鞘形成不全症", "nando_label_en": "Hypomyelination with atrophy of the basal ganglia and cerebellum", "mondo_id": "MONDO:0012905", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/161582", "ncbi_id": "161582", "genesymbol": "DNAAF4", "go_terms": "protein binding | nuclear estrogen receptor binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331", "go_pmid_ids": 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"Alport syndrome", "mondo_id": "MONDO:0018965", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1356", "ncbi_id": "1356", "genesymbol": "CP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 19996109 | 10481051,10508415 | 10481051,10508415 | 14623105 | | 14623105,16150804,29183916", "nando": "http://nanbyodata.jp/ontology/NANDO_1200540", "nando_id": "NANDO:1200540", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳内鉄沈着神経変性症4型", "nando_label_en": "Neurodegeneration with brain iron accumulation type 4", "mondo_id": "MONDO:0011426", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1376", "ncbi_id": "1376", "genesymbol": "CPT2", "go_terms": "carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding", "go_ids": "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", "go_pmid_ids": "1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200971", "nando_id": "NANDO:1200971", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "カルニチンパルミトイルトランスフェラーゼII欠損症", "nando_label_en": "Carnitine palmitoyltransferase II deficiency", "mondo_id": "MONDO:0015515", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22854", "ncbi_id": "22854", "genesymbol": "NTNG1", "go_terms": "cell-cell adhesion mediator activity | protein binding | cell adhesion molecule binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0098632 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0050839", "go_pmid_ids": "23986473 | 14595443,21946559,33961781 | 23986473", "nando": "http://nanbyodata.jp/ontology/NANDO_1200605", "nando_id": "NANDO:1200605", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非典型的レット症候群", "nando_label_en": "Atypical Rett syndrome", "mondo_id": "MONDO:0017746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10020", "ncbi_id": "10020", "genesymbol": "GNE", "go_terms": "N-acylmannosamine kinase activity | hydrolase activity, hydrolyzing O-glycosyl compounds | UDP-N-acetylglucosamine 2-epimerase activity | ATP binding | metal ion binding | protein binding", "go_ids": "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", "go_pmid_ids": "14707127 | | 14707127,26980148,2808337 | | | 18560563,25416956,31515488,32296183,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200218", "nando_id": "NANDO:1200218", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "縁取り空胞を伴う遠位型ミオパチー", "nando_label_en": "Distal myopathy with rimmed vacuoles", "mondo_id": "MONDO:0011603", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1438", "ncbi_id": "1438", "genesymbol": "CSF2RA", "go_terms": "signaling receptor activity | growth hormone receptor activity | cytokine receptor activity | protein binding | peptide hormone binding | cytokine binding", "go_ids": "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", "go_pmid_ids": "1358805 | | | 25416956 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200200", "nando_id": "NANDO:2200200", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性肺胞蛋白症", "nando_label_en": "Congenital alveolar proteinosis", "mondo_id": "MONDO:0012580", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1439", "ncbi_id": "1439", "genesymbol": "CSF2RB", "go_terms": "interleukin-3 receptor activity | cytokine receptor activity | signaling receptor activity | interleukin-5 receptor activity | protein binding | coreceptor activity", "go_ids": "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", "go_pmid_ids": "9410898 | | 9410898 | 9410898 | 1495999,16437163,17828305,18692472,20802515,29374162,9516124 | 7957082,8649415", "nando": "http://nanbyodata.jp/ontology/NANDO_2200200", "nando_id": "NANDO:2200200", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性肺胞蛋白症", "nando_label_en": "Congenital alveolar proteinosis", "mondo_id": "MONDO:0012580", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1501", "ncbi_id": "1501", "genesymbol": "CTNND2", "go_terms": "cadherin binding | protein binding | beta-catenin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013", "go_pmid_ids": " | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484", "nando": "http://nanbyodata.jp/ontology/NANDO_1200956", "nando_id": "NANDO:1200956", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "良性成人型家族性ミオクローヌスてんかん", "nando_label_en": "Benign adult familial myoclonus epilepsy", "mondo_id": "MONDO:0019448", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/220296", "ncbi_id": "220296", "genesymbol": "HEPACAM", "go_terms": "", "go_ids": "", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_1200950", "nando_id": "NANDO:1200950", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "皮質下嚢胞をもつ大頭型白質脳症", "nando_label_en": "Megaloencephalic leukoencephalopathy with subcortical cysts", "mondo_id": "MONDO:0011391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22897", "ncbi_id": "22897", "genesymbol": "CEP164", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22863007,23530209,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1201049", "nando_id": "NANDO:1201049", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "セニオール・ローケン症候群", "nando_label_en": "Senior-Loken syndrome", "mondo_id": "MONDO:0017842", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1767", "ncbi_id": "1767", "genesymbol": "DNAH5", "go_terms": "dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding", "go_ids": "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", "go_pmid_ids": " | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1770", "ncbi_id": "1770", "genesymbol": "DNAH9", "go_terms": "dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding", "go_ids": "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", "go_pmid_ids": " | | | | | 30471718", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1829", "ncbi_id": "1829", "genesymbol": "DSG2", "go_terms": "cell adhesion molecule binding | protein binding | calcium ion binding | cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication", "go_ids": "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", "go_pmid_ids": "17559062 | 11790773,29910125 | | 16505173", "nando": "http://nanbyodata.jp/ontology/NANDO_2200230", "nando_id": "NANDO:2200230", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "不整脈源性右室心筋症", "nando_label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "mondo_id": "MONDO:0016587", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1837", "ncbi_id": "1837", "genesymbol": "DTNA", "go_terms": "PDZ domain binding | zinc ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0030165 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | | 10767429,11353857,19931615,21115837,33961781,35271311,9356463", "nando": "http://nanbyodata.jp/ontology/NANDO_2200231", "nando_id": "NANDO:2200231", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "心筋緻密化障害", "nando_label_en": "Non-compaction of the ventricle", "mondo_id": "MONDO:0018901", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/200373", "ncbi_id": "200373", "genesymbol": "CFAP221", "go_terms": "calmodulin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005516", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10142", "ncbi_id": "10142", "genesymbol": "AKAP9", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3728", "ncbi_id": "3728", "genesymbol": "JUP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200230", "nando_id": "NANDO:2200230", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "不整脈源性右室心筋症", "nando_label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "mondo_id": "MONDO:0016587", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3753", "ncbi_id": "3753", "genesymbol": "KCNE1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "11697903 | 11101505,11697903,19521339,20196769,20533308,25037568,9230439 | | 10400998 | 10400998,11299204,12522251,19646991,24269949,8900283,9354802 | | 17289006,9230439 | 9354802 | 10400998,11220365,12522251,19219384,8900283", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3757", "ncbi_id": "3757", "genesymbol": "KCNH2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3762", "ncbi_id": "3762", "genesymbol": "KCNJ5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3784", "ncbi_id": "3784", "genesymbol": "KCNQ1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3920", "ncbi_id": "3920", "genesymbol": "LAMP2", "go_terms": "signaling adaptor activity | ion channel inhibitor activity | enzyme binding | protein domain specific binding | protein binding", "go_ids": "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", "go_pmid_ids": "36586411 | 37390818 | 22641697 | | 20797626,21194361,26212789,28514442,32814053,36481789,37390818", "nando": "http://nanbyodata.jp/ontology/NANDO_1200222", "nando_id": "NANDO:1200222", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ダノン病", "nando_label_en": "Danon disease", "mondo_id": "MONDO:0010281", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3939", "ncbi_id": "3939", "genesymbol": "LDHA", "go_terms": "cadherin binding | identical protein binding | L-lactate dehydrogenase activity | protein binding", "go_ids": "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", "go_pmid_ids": "25468996 | 21988832,25502805,31515488,34381247 | 1953713,34381247 | 21988832,23523103,25416956,25910212,28514442,31515488,32296183,33406399,33961781,34381247,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_1200833", "nando_id": "NANDO:1200833", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "筋型糖原病XI型", "nando_label_en": "Glycogen storage diseases type XI", "mondo_id": "MONDO:0013047", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6792", "ncbi_id": "6792", "genesymbol": "CDKL5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860", "nando": "http://nanbyodata.jp/ontology/NANDO_1200605", "nando_id": "NANDO:1200605", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非典型的レット症候群", "nando_label_en": "Atypical Rett syndrome", "mondo_id": "MONDO:0017746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4131", "ncbi_id": "4131", "genesymbol": "MAP1B", "go_terms": "protein-containing complex binding | protein binding | microtubule binding | phospholipid binding | structural molecule activity | actin binding", "go_ids": "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", "go_pmid_ids": " | 12147674,15525354,18656471,24089205,24614691,24754922,25902260 | 26609151 | | 1881920 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201079", "nando_id": "NANDO:1201079", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳室周囲結節状異所性灰白質", "nando_label_en": "Periventricular nodular heterotopia", "mondo_id": "MONDO:0020341", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6812", "ncbi_id": "6812", "genesymbol": "STXBP1", "go_terms": "protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding", "go_ids": "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", "go_pmid_ids": " | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200605", "nando_id": "NANDO:1200605", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非典型的レット症候群", "nando_label_en": "Atypical Rett syndrome", "mondo_id": "MONDO:0017746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11155", "ncbi_id": "11155", "genesymbol": "LDB3", "go_terms": "protein binding | muscle alpha-actinin binding | protein kinase C binding | actin binding | metal ion binding | cytoskeletal protein binding", "go_ids": "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", "go_pmid_ids": "10427098 | | | | | 17987659", "nando": "http://nanbyodata.jp/ontology/NANDO_2200231", "nando_id": "NANDO:2200231", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "心筋緻密化障害", "nando_label_en": "Non-compaction of the ventricle", "mondo_id": "MONDO:0018901", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6900", "ncbi_id": "6900", "genesymbol": "CNTN2", "go_terms": "cell-cell adhesion mediator activity | carbohydrate binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0098632 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | | 32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200956", "nando_id": "NANDO:1200956", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "良性成人型家族性ミオクローヌスてんかん", "nando_label_en": "Benign adult familial myoclonus epilepsy", "mondo_id": "MONDO:0019448", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25978", "ncbi_id": "25978", "genesymbol": "CHMP2B", "go_terms": "protein binding | protein domain specific binding | cadherin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0045296", "go_pmid_ids": "16730941,17683935,17928862,21044950,21975012,22046132,23051622,26496610 | 17928862 | 25468996", "nando": "http://nanbyodata.jp/ontology/NANDO_1200549", "nando_id": "NANDO:1200549", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "（行動異常型）前頭側頭型認知症", "nando_label_en": "Behavioral variant frontotemporal dementia", "mondo_id": "MONDO:0017160", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25978", "ncbi_id": "25978", "genesymbol": "CHMP2B", "go_terms": "protein binding | protein domain specific binding | cadherin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0045296", "go_pmid_ids": "16730941,17683935,17928862,21044950,21975012,22046132,23051622,26496610 | 17928862 | 25468996", "nando": "http://nanbyodata.jp/ontology/NANDO_1200550", "nando_id": "NANDO:1200550", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "意味性認知症", "nando_label_en": "Semantic dementia", "mondo_id": "MONDO:0010857", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/115399", "ncbi_id": "115399", "genesymbol": "LRRC56", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "30388400,32296183,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25981", "ncbi_id": "25981", "genesymbol": "DNAH1", "go_terms": "ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding", "go_ids": "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", "go_pmid_ids": " | 9373155 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11128", "ncbi_id": "11128", "genesymbol": "POLR3A", "go_terms": "zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial 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11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371", "nando": "http://nanbyodata.jp/ontology/NANDO_1200583", "nando_id": "NANDO:1200583", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "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", "nando_label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "mondo_id": "MONDO:0018655", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11128", "ncbi_id": "11128", "genesymbol": "POLR3A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371", "nando": "http://nanbyodata.jp/ontology/NANDO_1200585", "nando_id": "NANDO:1200585", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "失調、歯牙低形成を伴う髄鞘形成不全症", "nando_label_en": 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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 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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 | | | | ", 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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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200569", "nando_id": "NANDO:1200569", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "限局性皮質異形成タイプ2b", "nando_label_en": "Focal cortical dysplasia type 2b", "mondo_id": "MONDO:0017102", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2626", "ncbi_id": "2626", "genesymbol": "GATA4", "go_terms": "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 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glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding", "go_ids": "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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_1200056", "nando_id": "NANDO:1200056", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴーシェ病", "nando_label_en": "Gaucher disease", "mondo_id": "MONDO:0018150", "nando2mondo_match": "exactMatch" }, { "glycogene": 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"nando_category_en": "Designated intractable disease", "nando_label": "大脳優位型アレキサンダー病", "nando_label_en": "Alexander disease type I", "mondo_id": "MONDO:0018209", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2670", "ncbi_id": "2670", "genesymbol": "GFAP", "go_terms": "identical protein binding | kinase binding | protein binding | structural constituent of cytoskeleton | integrin binding", "go_ids": "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", "go_pmid_ids": "25416956,25910212,32296183 | | 16189514,17500595,25416956,25910212,26871637,27229929,29892012,31515488,32296183,32814053,33961781,34819669 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200556", "nando_id": "NANDO:1200556", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", 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9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200604", "nando_id": "NANDO:1200604", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "典型的レット症候群", "nando_label_en": "Typical Rett syndrome", "mondo_id": "MONDO:0010726", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4204", "ncbi_id": "4204", "genesymbol": "MECP2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200605", "nando_id": "NANDO:1200605", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "非典型的レット症候群", "nando_label_en": "Atypical Rett syndrome", "mondo_id": "MONDO:0017746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4512", "ncbi_id": "4512", "genesymbol": "COX1", "go_terms": "heme binding | metal ion binding | protein binding | cytochrome-c oxidase activity", "go_ids": "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", "go_pmid_ids": " | | 12762840,23260140,26321642,29154948,33961781 | 12140182", "nando": "http://nanbyodata.jp/ontology/NANDO_1200176", "nando_id": "NANDO:1200176", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "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", "nando_label_en": "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome", "mondo_id": "MONDO:0010789", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4540", "ncbi_id": "4540", "genesymbol": "ND5", "go_terms": "NADH dehydrogenase activity | NADH dehydrogenase (ubiquinone) activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003954 | http://purl.obolibrary.org/obo/GO_0008137", "go_pmid_ids": " | 15250827,3921850", "nando": "http://nanbyodata.jp/ontology/NANDO_1200176", "nando_id": "NANDO:1200176", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "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", "nando_label_en": "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes 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http://purl.obolibrary.org/obo/GO_0004842 | http://purl.obolibrary.org/obo/GO_0015459", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1201079", "nando_id": "NANDO:1201079", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳室周囲結節状異所性灰白質", "nando_label_en": "Periventricular nodular heterotopia", "mondo_id": "MONDO:0020341", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23129", "ncbi_id": "23129", "genesymbol": "PLXND1", "go_terms": "semaphorin receptor activity | protein domain specific binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017154 | 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200134", "nando_id": "NANDO:2200134", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "リポタンパク糸球体症", "nando_label_en": "Lipoprotein glomerulopathy", "mondo_id": "MONDO:0012725", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9992", "ncbi_id": "9992", "genesymbol": "KCNE2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10219239 | | 10219239 | 10219239 | 11101505,20533308 | 10219239 | 10219239,19219384", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26503", "ncbi_id": "26503", "genesymbol": "SLC17A5", "go_terms": "sialic acid:proton symporter activity | D-glucuronate transmembrane transporter activity | sialic acid transmembrane transporter activity | carbohydrate:proton symporter activity", "go_ids": "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", "go_pmid_ids": " | | 10581036 | 10581036", "nando": "http://nanbyodata.jp/ontology/NANDO_1200582", "nando_id": "NANDO:1200582", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サラ病", "nando_label_en": "Salla disease", "mondo_id": "MONDO:0011449", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7415", "ncbi_id": "7415", "genesymbol": "VCP", "go_terms": "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 | 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200549", "nando_id": "NANDO:1200549", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "（行動異常型）前頭側頭型認知症", "nando_label_en": "Behavioral variant frontotemporal dementia", "mondo_id": "MONDO:0017160", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/775", "ncbi_id": "775", "genesymbol": "CACNA1C", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/845", "ncbi_id": "845", "genesymbol": "CASQ2", "go_terms": "calcium ion sequestering activity | protein binding | calcium-dependent protein binding | protein homodimerization activity | calcium ion binding", "go_ids": "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", "go_pmid_ids": "16908766,21416293 | 22123818,32296183 | 15485681 | | 16601229,16908766,17881003", "nando": "http://nanbyodata.jp/ontology/NANDO_2200216", "nando_id": "NANDO:2200216", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "多源性心室期外収縮", "nando_label_en": "Polymorphic ventricular premature beat", "mondo_id": "MONDO:0017990", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/845", "ncbi_id": "845", "genesymbol": "CASQ2", "go_terms": "calcium ion sequestering activity | protein binding | calcium-dependent protein binding | protein homodimerization activity | calcium ion binding", "go_ids": "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", "go_pmid_ids": "16908766,21416293 | 22123818,32296183 | 15485681 | | 16601229,16908766,17881003", "nando": "http://nanbyodata.jp/ontology/NANDO_2200221", "nando_id": "NANDO:2200221", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カテコラミン誘発多形性心室頻拍", "nando_label_en": "Catecholaminergic polymorphic ventricular tachycardia", "mondo_id": "MONDO:0017990", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26146", "ncbi_id": "26146", "genesymbol": "TRAF3IP1", "go_terms": "protein binding | microtubule binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008017", "go_pmid_ids": "10791955,12812986,12935900,17043677,20391533,30021884,31413325,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201049", "nando_id": "NANDO:1201049", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "セニオール・ローケン症候群", "nando_label_en": "Senior-Loken syndrome", "mondo_id": "MONDO:0017842", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55703", "ncbi_id": "55703", "genesymbol": "POLR3B", "go_terms": "DNA-directed 5'-3' RNA polymerase activity | ribonucleoside binding | DNA binding | DNA/RNA hybrid binding | zinc ion binding", "go_ids": "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", "go_pmid_ids": "34675218 | | | 34675218 | 34675218", "nando": "http://nanbyodata.jp/ontology/NANDO_1200585", "nando_id": "NANDO:1200585", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "失調、歯牙低形成を伴う髄鞘形成不全症", "nando_label_en": "Ataxia, delayed dentition, and hypomyelination syndrome", "mondo_id": "MONDO:0011897", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3135", "ncbi_id": "3135", "genesymbol": "HLA-G", "go_terms": "protein binding | protein homodimerization activity | CD8 receptor binding | identical protein binding | signaling receptor binding | peptide antigen binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200197", "nando_id": "NANDO:2200197", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "気管支喘息", "nando_label_en": "Bronchial asthma", "mondo_id": "MONDO:0010940", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/410", "ncbi_id": "410", "genesymbol": "ARSA", "go_terms": "protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity", "go_ids": "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", "go_pmid_ids": "21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200078", "nando_id": "NANDO:1200078", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "異染性白質ジストロフィー", "nando_label_en": "Metachromatic leukodystrophy", "mondo_id": "MONDO:0018868", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5048", "ncbi_id": "5048", "genesymbol": "PAFAH1B1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11889140 | 8028668 | 10729324 | 10931877,11163258,11940666,16754861,20133715,20360068,22159412,27173435,28514442,29961565,31413325,33961781,38547289 | | | | 11056532 | | 8028668", "nando": "http://nanbyodata.jp/ontology/NANDO_1201070", "nando_id": "NANDO:1201070", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "皮質下帯状異所性灰白質", "nando_label_en": "Subcortical band heterotopia", "mondo_id": "MONDO:0020491", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5155", "ncbi_id": "5155", "genesymbol": "PDGFB", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "7073684 | 7073684 | 2836953 | 1661670,20534510,2439522,2536956,2836953 | 1396586,23139410,7679113 | 17942966 | 8900172 | 21245381 | 12070119 | 10806482,11297552,12070119,17981115,20534510,2536956,32296183,7679113", "nando": "http://nanbyodata.jp/ontology/NANDO_1200208", "nando_id": "NANDO:1200208", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性特発性基底核石灰化症", "nando_label_en": "Familial idiopathic basal ganglia calcification", "mondo_id": "MONDO:0024538", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5159", "ncbi_id": "5159", "genesymbol": "PDGFRB", "go_terms": "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 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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", "go_pmid_ids": " | 1653029 | 1314164,2536956,2554309,26599395,2850496 | | | 2536956 | | | | 2536956 | 1314164 | | 17470632 | 10821867 | | | 1653029 | | | 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"http://glycosmos.org/glycogene/5195", "ncbi_id": "5195", "genesymbol": "PEX14", "go_terms": "protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding", "go_ids": "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", "go_pmid_ids": "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", "nando": 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"http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248", "go_pmid_ids": "30190309 | 12766226,30190309", "nando": "http://nanbyodata.jp/ontology/NANDO_1200500", "nando_id": "NANDO:1200500", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ナトリウムチャネルミオトニー", "nando_label_en": "Sodium channel myotonia", "mondo_id": "MONDO:0018959", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6330", "ncbi_id": "6330", "genesymbol": "SCN4B", "go_terms": "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", "go_ids": "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 | 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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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200228", "nando_id": "NANDO:2200228", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "QT延長症候群", "nando_label_en": "Long qt syndrome", "mondo_id": "MONDO:0019171", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6356", "ncbi_id": "6356", "genesymbol": "CCL11", "go_terms": "CCR3 chemokine receptor binding | CCR chemokine receptor binding | protein dimerization activity | receptor ligand activity | protein binding | chemokine activity", "go_ids": "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", "go_pmid_ids": "11425309 | | 9712872 | 11425309 | 18275857,21314817,23597562,28381538 | 10072545", "nando": "http://nanbyodata.jp/ontology/NANDO_2200197", "nando_id": "NANDO:2200197", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "気管支喘息", "nando_label_en": "Bronchial asthma", "mondo_id": "MONDO:0010940", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6575", "ncbi_id": "6575", "genesymbol": "SLC20A2", "go_terms": "signaling receptor activity | sodium:phosphate symporter activity | virus receptor activity | inorganic phosphate transmembrane transporter activity", "go_ids": "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", "go_pmid_ids": "8302848 | 12205090,15955065,16790504,17494632,22327515,28722801,30704756 | 12205090,15955065 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200208", "nando_id": "NANDO:1200208", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性特発性基底核石灰化症", "nando_label_en": "Familial idiopathic basal ganglia calcification", "mondo_id": "MONDO:0024538", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6513", "ncbi_id": "6513", "genesymbol": "SLC2A1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690", "nando": "http://nanbyodata.jp/ontology/NANDO_1200520", "nando_id": "NANDO:1200520", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT9ジストニア", "nando_label_en": "Dystonia 9", "mondo_id": "MONDO:0010983", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6513", "ncbi_id": "6513", "genesymbol": "SLC2A1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18347014,23563491,25910212,25957687,35810171 | 10227690,1714544,18245775,21791420,2211693,25982116,27078104,28993322 | 1429721 | 10862609,9228080 | | | | | 10227690", "nando": "http://nanbyodata.jp/ontology/NANDO_1200531", "nando_id": "NANDO:1200531", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT18ジストニア", "nando_label_en": "Dystonia 18", "mondo_id": "MONDO:0012805", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6535", "ncbi_id": "6535", "genesymbol": "SLC6A8", "go_terms": "creatine:sodium symporter activity | creatine transmembrane transporter activity | gamma-aminobutyric acid:sodium:chloride symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005309 | http://purl.obolibrary.org/obo/GO_0005308 | http://purl.obolibrary.org/obo/GO_0005332", "go_pmid_ids": "17465020,22644605,25861866,7945388,7953292,9882430 | 8661037 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201035", "nando_id": "NANDO:1201035", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "クレアチントランスポーター欠損症", "nando_label_en": "Creatine transporter deficiency", "mondo_id": "MONDO:0010305", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6536", "ncbi_id": "6536", "genesymbol": "SLC6A9", "go_terms": "glycine transmembrane transporter activity | amino acid:sodium symporter activity | glycine:sodium symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015187 | http://purl.obolibrary.org/obo/GO_0005283 | http://purl.obolibrary.org/obo/GO_0015375", "go_pmid_ids": "11159884 | | 8183239", "nando": "http://nanbyodata.jp/ontology/NANDO_1200986", "nando_id": "NANDO:1200986", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "乳児型非ケトーシス型高グリシン血症", "nando_label_en": "Infantile nonketotic hyperglycinemia", "mondo_id": "MONDO:0017354", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6674", "ncbi_id": "6674", "genesymbol": "SPAG1", "go_terms": "GTP binding | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200203", "nando_id": "NANDO:2200203", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線毛機能不全症候群", "nando_label_en": "Primary ciliary dyskinesia", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8878", "ncbi_id": "8878", "genesymbol": "SQSTM1", "go_terms": "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 | 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http://purl.obolibrary.org/obo/GO_0043130 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0070530", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200218", "nando_id": "NANDO:1200218", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "縁取り空胞を伴う遠位型ミオパチー", "nando_label_en": "Distal myopathy with rimmed vacuoles", "mondo_id": "MONDO:0014945", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8878", "ncbi_id": "8878", "genesymbol": "SQSTM1", "go_terms": "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", "go_ids": "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 | 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12857745 | 27368102 | 28404643,29343546", "nando": "http://nanbyodata.jp/ontology/NANDO_1200549", "nando_id": "NANDO:1200549", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "（行動異常型）前頭側頭型認知症", "nando_label_en": "Behavioral variant frontotemporal dementia", "mondo_id": "MONDO:0017160", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54209", "ncbi_id": "54209", "genesymbol": "TREM2", "go_terms": "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 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"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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200550", "nando_id": "NANDO:1200550", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "意味性認知症", "nando_label_en": "Semantic dementia", "mondo_id": "MONDO:0010857", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/27130", "ncbi_id": "27130", "genesymbol": "INVS", "go_terms": "calmodulin binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 18371931,21565611,21602787,29959317,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1201049", "nando_id": "NANDO:1201049", "nando_category": 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22170710,22266943,24140098,36640554 | 22266943 | 2808364 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200373", "nando_id": "NANDO:2200373", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "17α-水酸化酵素欠損症", "nando_label_en": "17 alpha-hydroxylase deficiency", "mondo_id": "MONDO:0008730", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1589", "ncbi_id": "1589", "genesymbol": "CYP21A2", "go_terms": "steroid hydroxylase activity | iron ion binding | heme binding | progesterone 21-hydroxylase activity | 17-hydroxyprogesterone 21-hydroxylase activity | steroid binding | steroid 21-monooxygenase activity", "go_ids": "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", "go_pmid_ids": "16984992 | | 25855791 | 25855791 | 25855791 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200374", "nando_id": "NANDO:2200374", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "21-水酸化酵素欠損症", "nando_label_en": "21-Hydroxylase deficiency", "mondo_id": "MONDO:0008728", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1621", "ncbi_id": "1621", "genesymbol": "DBH", "go_terms": "copper ion binding | protein binding | catalytic activity | dopamine beta-monooxygenase activity | L-ascorbic acid binding", "go_ids": "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", "go_pmid_ids": "27152332,7961964 | 26199316,32296183,32814053 | 3443096 | 3443096,7961964 | ", "nando": 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"nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1893", "ncbi_id": "1893", "genesymbol": "ECM1", "go_terms": "extracellular matrix structural constituent | interleukin-2 receptor binding | protein binding | protease binding", "go_ids": "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", "go_pmid_ids": "25037231,27068509 | | 12604605,19275936,20870722,32296183 | 16512877", "nando": "http://nanbyodata.jp/ontology/NANDO_2200608", "nando_id": "NANDO:2200608", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "リポイドタンパク症", "nando_label_en": "Lipoid proteinosis", "mondo_id": "MONDO:0009530", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3651", "ncbi_id": "3651", "genesymbol": "PDX1", "go_terms": "DNA-binding transcription factor activity, RNA 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"go_terms": "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 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http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000822", "go_pmid_ids": " | | 37898605 | 10828023,30013099,37898605 | 10611319,19052258,19553469,21062895,25996873,28614305 | 37898605 | 8288584 | | 37898605 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200460", "nando_id": "NANDO:2200460", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "1型糖尿病", "nando_label_en": "Diabetes mellitus type 1", "mondo_id": "MONDO:0005147", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3767", "ncbi_id": "3767", "genesymbol": "KCNJ11", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "28842488 | 8923010 | 20610380 | 20610380 | 12860923 | | 19805355,32296183 | | 19805355 | 18945825", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": 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http://purl.obolibrary.org/obo/GO_0001618", "go_pmid_ids": " | 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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200602", "nando_id": "NANDO:2200602", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性高コレステロール血症", "nando_label_en": "Familial hypercholesterolemia", "mondo_id": "MONDO:0007750", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3990", "ncbi_id": "3990", "genesymbol": "LIPC", "go_terms": "phospholipase activity | carboxylic ester hydrolase activity | triglyceride lipase activity | 1-acyl-2-lysophosphatidylserine acylhydrolase activity | low-density lipoprotein particle binding | phospholipase A1 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"MONDO:0008721", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/35", "ncbi_id": "35", "genesymbol": "ACADS", "go_terms": "acyl-CoA dehydrogenase activity | short-chain-acyl-CoA dehydrogenase activity | flavin adenine dinucleotide binding | protein binding", "go_ids": "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", "go_pmid_ids": "11134486,3597357 | | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200514", "nando_id": "NANDO:2200514", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "短鎖アシルCoA脱水素酵素欠損症", "nando_label_en": "Short-chain acyl-CoA dehydrogenase deficiency", "mondo_id": "MONDO:0008722", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/37", "ncbi_id": "37", "genesymbol": "ACADVL", "go_terms": 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{ "glycogene": "http://glycosmos.org/glycogene/38", "ncbi_id": "38", "genesymbol": "ACAT1", "go_terms": "coenzyme A binding | C-acetyltransferase activity | cholesterol O-acyltransferase activity | identical protein binding | potassium ion binding | enzyme binding | acetyl-CoA C-acetyltransferase activity", "go_ids": "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", "go_pmid_ids": " | 17371050 | 32944968 | | 17371050 | | 17371050,1979337,8103405", "nando": "http://nanbyodata.jp/ontology/NANDO_2200493", "nando_id": "NANDO:2200493", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "β-ケトチオラーゼ欠損症", "nando_label_en": "Beta-ketothiolase deficiency", "mondo_id": "MONDO:0008760", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6775", "ncbi_id": "6775", "genesymbol": "STAT4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22740693,32814053 | | | 31562212,37256972 | 18591661", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6775", "ncbi_id": "6775", "genesymbol": "STAT4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22740693,32814053 | | | 31562212,37256972 | 18591661", "nando": "http://nanbyodata.jp/ontology/NANDO_2200422", "nando_id": "NANDO:2200422", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": 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"go_pmid_ids": "12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242", "nando": "http://nanbyodata.jp/ontology/NANDO_2200460", "nando_id": "NANDO:2200460", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "1型糖尿病", "nando_label_en": "Diabetes mellitus type 1", "mondo_id": "MONDO:0005147", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6927", "ncbi_id": "6927", "genesymbol": "HNF1A", "go_terms": "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 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"nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2006", "ncbi_id": "2006", "genesymbol": "ELN", "go_terms": "extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding", "go_ids": "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", "go_pmid_ids": "27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771", "nando": "http://nanbyodata.jp/ontology/NANDO_2200285", "nando_id": "NANDO:2200285", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大動脈弁上狭窄症", "nando_label_en": "Supravalvular aortic stenosis", "mondo_id": "MONDO:0008504", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2006", "ncbi_id": "2006", "genesymbol": "ELN", "go_terms": "extracellular matrix constituent conferring elasticity | extracellular matrix structural constituent | extracellular matrix binding | protein binding", "go_ids": "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", "go_pmid_ids": "27559042,28327460,28675934 | 25037231 | | 11805834,15790312,16478991,17035250,17324935,19570982,30676771", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2053", "ncbi_id": "2053", "genesymbol": "EPHX2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 10862610,21217101,22798687,8342951 | 15096040,18513744 | 12574510 | 22217705,22387545 | 12574508,15196990,24681163 | 15096040 | 12574510", "nando": "http://nanbyodata.jp/ontology/NANDO_2200602", "nando_id": "NANDO:2200602", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性高コレステロール血症", "nando_label_en": "Familial hypercholesterolemia", "mondo_id": "MONDO:0007750", 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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", "go_pmid_ids": "10382761,11567028,17474147,24642916,32814053,8577729,9148918,9603468 | 23921129,26871627 | 23921129 | 2142460 | | 2142460", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2215", "ncbi_id": "2215", "genesymbol": "FCGR3B", "go_terms": "IgG receptor activity | IgG binding | GPI anchor binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0019770 | http://purl.obolibrary.org/obo/GO_0019864 | http://purl.obolibrary.org/obo/GO_0034235", 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"genesymbol": "GALE", "go_terms": "identical protein binding | protein homodimerization activity | UDP-glucose 4-epimerase activity | UDP-N-acetylglucosamine 4-epimerase activity", "go_ids": "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", "go_pmid_ids": "16189514,25416956,25502805,31515488,32296183 | 16302980 | 16302980 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200534", "nando_id": "NANDO:2200534", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症", "nando_label_en": "UDP-galactose-4-epimerase deficiency", "mondo_id": "MONDO:0009257", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2584", "ncbi_id": "2584", "genesymbol": "GALK1", "go_terms": "galactose binding | ATP binding | galactokinase activity | protein binding", "go_ids": 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"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", "go_pmid_ids": " | | 2531080 | 17474147,17785206", "nando": "http://nanbyodata.jp/ontology/NANDO_2200645", "nando_id": "NANDO:2200645", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "免疫性血小板減少性紫斑病", "nando_label_en": "Immune thrombocytopenic purpura", "mondo_id": "MONDO:0008558", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55630", "ncbi_id": "55630", "genesymbol": "SLC39A4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 30793391 | 25882556 | 30874431 | 25882556,30793391 | 32348750 | 22242765,31164399", "nando": "http://nanbyodata.jp/ontology/NANDO_2200584", "nando_id": "NANDO:2200584", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性腸性肢端皮膚炎", "nando_label_en": "Acrodermatitis enteropathica", "mondo_id": "MONDO:0008713", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/149233", "ncbi_id": "149233", "genesymbol": "IL23R", "go_terms": "interleukin-12 receptor binding | peptide hormone binding | cytokine receptor activity | protein binding | cytokine binding | prolactin receptor activity | interleukin-23 binding | interleukin-23 receptor activity", "go_ids": 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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", "go_ids": "http://purl.obolibrary.org/obo/GO_0072371 | http://purl.obolibrary.org/obo/GO_0044022 | 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http://purl.obolibrary.org/obo/GO_0005524 | http://purl.obolibrary.org/obo/GO_0106310", "go_pmid_ids": " | | | | | | | | | | | 12517337 | | | | | 10983986,16540465,21432781,23444369 | | | | 10490823,10983986,12434148,16417406,16792529,17030088,19713527,20059950,20856200,21291857,21737686,22939624,23444369,23823123,27505672,28514442,32296183,33961781 | | | | 16540465 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/229", "ncbi_id": "229", "genesymbol": "ALDOB", "go_terms": "cytoskeletal protein binding | protein binding | ATPase binding | identical protein binding | fructose binding | molecular adaptor activity | fructose-1-phosphate aldolase activity | fructose-bisphosphate aldolase activity", "go_ids": "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", "go_pmid_ids": "9244396 | 18000879,21988832,33961781,35122041 | 17576770 | 10625657 | 10625657 | 35122041 | 10970798,2649152 | 10625657,10970798,17576770,35122041,9244396", "nando": "http://nanbyodata.jp/ontology/NANDO_2200531", "nando_id": "NANDO:2200531", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性フルクトース不耐症", "nando_label_en": "Hereditary fructose intolerance", "mondo_id": "MONDO:0009249", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9569", "ncbi_id": "9569", "genesymbol": "GTF2IRD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10575229 | 26275350,32296183 | 9774679 | 23229069,9774679 | 11438732", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/336", "ncbi_id": "336", "genesymbol": "APOA2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "11027668 | | 7918467,8245722 | 27477018 | 218942 | 14967812 | 1606170 | 17264082 | 14967812 | 11162594 | 10764676 | 14967812 | 27477018 | 218942 | 9651324 | 17264082 | 11991719,14967812,17786215,25416956,29892012,32296183 | 14967812", "nando": "http://nanbyodata.jp/ontology/NANDO_2200602", "nando_id": "NANDO:2200602", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性高コレステロール血症", "nando_label_en": "Familial hypercholesterolemia", "mondo_id": "MONDO:0007750", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9479", "ncbi_id": "9479", "genesymbol": "MAPK8IP1", "go_terms": "MAP-kinase scaffold activity | kinesin binding | protein binding | JUN kinase binding | protein kinase inhibitor activity", "go_ids": "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", "go_pmid_ids": "11238452 | 11238452 | 11517249,11724784,11726277,16273093,16840345,17709393,18286207,31413325,31980649,33961781,35914814 | | 9933567", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9031", "ncbi_id": "9031", "genesymbol": "BAZ1B", "go_terms": "histone binding | non-membrane spanning protein tyrosine kinase activity | histone kinase activity | zinc ion binding | protein binding | ATP binding | histone H2AXY142 kinase activity", "go_ids": "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", "go_pmid_ids": " | | | 11124022 | 11980720,15543136,16514417,30021884,33961781,35271311 | | 19092802", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26608", "ncbi_id": "26608", "genesymbol": "TBL2", "go_terms": "protein binding | phosphoprotein binding | protein kinase binding | translation initiation factor binding | RNA binding", "go_ids": "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", "go_pmid_ids": "20562859,33961781 | 25393282 | 25393282 | 25393282 | 22658674", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7372", "ncbi_id": "7372", "genesymbol": "UMPS", "go_terms": "orotate phosphoribosyltransferase activity | identical protein binding | orotidine-5'-phosphate decarboxylase activity | protein binding", "go_ids": "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", "go_pmid_ids": "11730338,6893554,9042911 | 18184586 | 11730338,18184586,6893554,9042911 | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200590", "nando_id": "NANDO:2200590", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "オロト酸尿症", "nando_label_en": "Orotic aciduria", "mondo_id": "MONDO:0009797", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51085", "ncbi_id": "51085", "genesymbol": "MLXIPL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "11230181 | | 10780788,11230181 | 18591247 | 21084751 | | 11230181 | | 21084751 | | 10780788 | 11230181", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7466", "ncbi_id": "7466", "genesymbol": "WFS1", "go_terms": "calmodulin binding | calcium-dependent protein binding | ubiquitin protein ligase binding | protein binding | DNA-binding transcription factor binding | proteasome binding | protein carrier chaperone | ATPase binding", "go_ids": "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", "go_pmid_ids": " | | 20160352 | 17947299,21044950,23035048,25274773,32296183,32814053 | | | 20160352 | 17947299", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/720", "ncbi_id": "720", "genesymbol": "C4A", "go_terms": "complement component C1q complex binding | endopeptidase inhibitor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "2395880 | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/720", "ncbi_id": "720", "genesymbol": "C4A", "go_terms": "complement component C1q complex binding | endopeptidase inhibitor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0001849 | http://purl.obolibrary.org/obo/GO_0004866 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "2395880 | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200422", "nando_id": "NANDO:2200422", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/721", "ncbi_id": "721", "genesymbol": "C4B", "go_terms": "protein binding | endopeptidase inhibitor activity | carbohydrate binding | complement binding | complement component C1q complex binding", "go_ids": "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", "go_pmid_ids": "22071314 | | 2395880 | 2395880 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7461", "ncbi_id": "7461", "genesymbol": "CLIP2", "go_terms": "microtubule binding | microtubule plus-end binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008017 | http://purl.obolibrary.org/obo/GO_0051010", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200286", "nando_id": "NANDO:2200286", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィリアムズ症候群", "nando_label_en": "Williams syndrome", "mondo_id": "MONDO:0008678", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79932", "ncbi_id": "79932", "genesymbol": "KIAA0319L", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "20697954,25416956", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3081", "ncbi_id": "3081", "genesymbol": "HGD", "go_terms": "metal ion binding | identical protein binding | homogentisate 1,2-dioxygenase activity | protein binding", "go_ids": "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", "go_pmid_ids": " | 25416956,32296183 | 8782815 | 21044950,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200504", "nando_id": "NANDO:2200504", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "アルカプトン尿症", "nando_label_en": "Alkaptonuria", "mondo_id": "MONDO:0008753", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3106", "ncbi_id": "3106", "genesymbol": "HLA-B", "go_terms": "signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding", "go_ids": "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", "go_pmid_ids": "20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949", "nando": "http://nanbyodata.jp/ontology/NANDO_2200422", "nando_id": "NANDO:2200422", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ベーチェット病", "nando_label_en": "Behcet's disease", "mondo_id": "MONDO:0007191", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3123", "ncbi_id": "3123", "genesymbol": "HLA-DRB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1281771 | 10425186,11144299,15795121,3129499,3456344 | 21081917,27114505,9354468 | 24942581 | 1448172,20543955,21502329,22733780,7477400,7606781 | 21502329 | 20458337 | 29884618", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3155", "ncbi_id": "3155", "genesymbol": "HMGCL", "go_terms": "magnesium ion binding | hydroxymethylglutaryl-CoA lyase activity | manganese ion binding | structural molecule activity | metal ion binding", "go_ids": "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", "go_pmid_ids": "9200711 | 12464283,22847177,22865860,8027038,8670134,9200711,9869651 | 9200711 | 12464283 | 16330550", "nando": "http://nanbyodata.jp/ontology/NANDO_2200497", "nando_id": "NANDO:2200497", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "3-ヒドロキシ-3-メチルグルタル酸血症", "nando_label_en": "3-hydroxy-3-methylglutaric acidemia", "mondo_id": "MONDO:0009520", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3172", "ncbi_id": "3172", "genesymbol": "HNF4A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0007452", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3172", "ncbi_id": "3172", "genesymbol": "HNF4A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/411", "ncbi_id": "411", "genesymbol": "ARSB", "go_terms": "N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065", "go_pmid_ids": "19306108 | | 2303452", "nando": "http://nanbyodata.jp/ontology/NANDO_2200551", "nando_id": "NANDO:2200551", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ムコ多糖症VI型", "nando_label_en": "Mucopolysaccharidosis type VI", "mondo_id": "MONDO:0009661", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/427", "ncbi_id": "427", "genesymbol": "ASAH1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22927646 | 10610716,11451951,12764132,12815059,7744740 | 15655246 | 22927646 | | 22927646,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_2200565", "nando_id": "NANDO:2200565", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ファーバー病", "nando_label_en": "Farber disease", "mondo_id": "MONDO:0009218", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/445", "ncbi_id": "445", "genesymbol": "ASS1", "go_terms": "protein binding | toxic substance binding | RNA binding | ATP binding | identical protein binding | amino acid binding | argininosuccinate synthase activity", "go_ids": "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", "go_pmid_ids": "12620389,17496144,28587924,28985504 | | 22658674 | | 16189514,21988832,25416956 | 7977368 | 18473344,27287393,28985504,7977368,8792870", "nando": "http://nanbyodata.jp/ontology/NANDO_2200480", "nando_id": "NANDO:2200480", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "アルギニノコハク酸合成酵素欠損症", "nando_label_en": "Argininosuccinate synthetase deficiency", "mondo_id": "MONDO:0008988", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5019", "ncbi_id": "5019", "genesymbol": "OXCT1", "go_terms": "succinyl-CoA:3-oxo-acid CoA-transferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0008260", "go_pmid_ids": "10964512,8751852", "nando": "http://nanbyodata.jp/ontology/NANDO_2200499", "nando_id": "NANDO:2200499", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症", "nando_label_en": "Succinyl-CoA:3-ketoacid CoA transferase deficiency", "mondo_id": "MONDO:0009492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5133", "ncbi_id": "5133", "genesymbol": "PDCD1", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "15240681,17489864,20587542,21982860,23417675,26602187,28046066,30487606 | 21276005,38377992", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5213", "ncbi_id": "5213", "genesymbol": "PFKM", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 25416956,6444721 | | 8780720 | 6444721 | | 25796446,6444532,6444721,8780720 | 8780720 | 12649290,21988832,25416956,25796446,28514442,33961781,6444721", "nando": "http://nanbyodata.jp/ontology/NANDO_2200543", "nando_id": "NANDO:2200543", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "糖原病VII型", "nando_label_en": "Glycogen storage disease type VII", "mondo_id": "MONDO:0009295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5468", "ncbi_id": "5468", "genesymbol": "PPARG", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5476", "ncbi_id": "5476", "genesymbol": "CTSA", "go_terms": "serine-type carboxypeptidase activity | carboxypeptidase activity | enzyme activator activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004185 | http://purl.obolibrary.org/obo/GO_0004180 | http://purl.obolibrary.org/obo/GO_0008047", "go_pmid_ids": "12505983,1907282 | 2244901 | 3107551", "nando": "http://nanbyodata.jp/ontology/NANDO_2200557", "nando_id": "NANDO:2200557", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ガラクトシアリドーシス", "nando_label_en": "Galactosialidosis", "mondo_id": "MONDO:0009737", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5506", "ncbi_id": "5506", "genesymbol": "PPP1R3A", "go_terms": "protein phosphatase 1 binding | glycogen binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008157 | http://purl.obolibrary.org/obo/GO_2001069", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5770", "ncbi_id": "5770", "genesymbol": "PTPN1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5836", "ncbi_id": "5836", "genesymbol": "PYGL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "25416956,25910212,32296183,33961781 | 10980448 | 10949035,10980448 | 12204691 | | 10980448,17705025,22225877,9529348 | | | 10949035 | 10980448,12204691 | | 12204691 | 12204691", "nando": "http://nanbyodata.jp/ontology/NANDO_2200542", "nando_id": "NANDO:2200542", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "糖原病VI型", "nando_label_en": "Glycogen storage disease type VI", "mondo_id": "MONDO:0009294", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5837", "ncbi_id": "5837", "genesymbol": "PYGM", "go_terms": "pyridoxal phosphate binding | glycogen phosphorylase activity | maltodextrin phosphorylase activity | linear malto-oligosaccharide phosphorylase activity | SHG alpha-glucan phosphorylase activity | protein binding | nucleotide binding", "go_ids": "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", "go_pmid_ids": " | 1150650,8316268 | | | | 24722188,25416956,31515488,32296183,33961781,36217029 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200541", "nando_id": "NANDO:2200541", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "糖原病V型", "nando_label_en": "Glycogen storage disease type V", "mondo_id": "MONDO:0009293", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5979", "ncbi_id": "5979", "genesymbol": "RET", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 7824936 | 10545102,11536047,16569669,17471236,20877310,21994944,25241761,25416956,25910212,28846097,28846099,28953886,35044719,35384245,39009827 | | 11445581,9575150 | | 24560924,28846099,31535977 | | | 7824936 | | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200406", "nando_id": "NANDO:2200406", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "多発性内分泌腫瘍2型", "nando_label_en": "Multiple endocrine neoplasia type 2", "mondo_id": "MONDO:0008234", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6340", "ncbi_id": "6340", "genesymbol": "SCNN1G", "go_terms": "WW domain binding | sodium channel activity | ligand-gated sodium channel activity | protein binding | monoatomic ion channel activity | ion channel activity", "go_ids": "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", "go_pmid_ids": "10642508 | 24124190,32729833 | | 11244092,16423824,21775436,22493497 | 22864553 | 22864553", "nando": "http://nanbyodata.jp/ontology/NANDO_2200363", "nando_id": "NANDO:2200363", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "リドル症候群", "nando_label_en": "Liddle syndrome", "mondo_id": "MONDO:0008323", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6584", "ncbi_id": "6584", "genesymbol": "SLC22A5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "15523054 | 15238359 | | | 17509700,20722056,23877104,33334877 | 10454528,10966938,23567998,9618255 | 15523054,28514442,32296183,33961781 | 33124720 | 10454528,10966938,17855766,9685390,9916797", "nando": "http://nanbyodata.jp/ontology/NANDO_2200508", "nando_id": "NANDO:2200508", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性カルニチン欠損症", "nando_label_en": "Organic cation transporter 2 deficiency", "mondo_id": "MONDO:0008919", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6514", "ncbi_id": "6514", "genesymbol": "SLC2A2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "8457197 | | | 23396969 | 23396969,28083649,29548810,8457197 | 23396969,28083649,29548810,8457197", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6519", "ncbi_id": "6519", "genesymbol": "SLC3A1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "8054986 | | 32494597 | 10799513 | 12167606,32494597 | 8054986", "nando": "http://nanbyodata.jp/ontology/NANDO_2200489", "nando_id": "NANDO:2200489", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "シスチン尿症", "nando_label_en": "Cystinuria", "mondo_id": "MONDO:0009067", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6696", "ncbi_id": "6696", "genesymbol": "SPP1", "go_terms": "cytokine activity | small molecule binding | integrin binding | extracellular matrix binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 33914399 | 25839998 | | 10747989,11162539,16189514,21988832,22582013,25416956,25789606,25910212,26091039,32296183,32814053,8560266", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64072", "ncbi_id": "64072", "genesymbol": "CDH23", "go_terms": "beta-catenin binding | calcium ion binding | protein binding | cadherin binding", "go_ids": "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", "go_pmid_ids": " | | 12485990 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200350", "nando_id": "NANDO:2200350", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "クッシング病", "nando_label_en": "Cushing disease", "mondo_id": "MONDO:0009050", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/56945", "ncbi_id": "56945", "genesymbol": "MRPS22", "go_terms": "structural constituent of ribosome | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0003735 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "10938081 | 30021884,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200384", "nando_id": "NANDO:2200384", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "卵巣形成不全", "nando_label_en": "Ovarian dysgenesis", "mondo_id": "MONDO:0009299", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54899", "ncbi_id": "54899", "genesymbol": "PXK", "go_terms": "phosphatidylinositol binding | protein kinase activity | protein binding | nucleotide binding | actin binding | ATP binding", "go_ids": "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", "go_pmid_ids": "16142408 | 16142408 | 16135750 | 16142408 | | 16142408", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8924", "ncbi_id": "8924", "genesymbol": "HERC2", "go_terms": "ubiquitin protein ligase binding | ubiquitin protein ligase activity | SUMO binding | guanyl-nucleotide exchange factor activity | protein binding | zinc ion binding", "go_ids": "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", "go_pmid_ids": "22508508 | 20304803 | 22508508 | 9949213 | 20023648,20304803,28514442,29426014,31413325,33961781,35140242 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200411", "nando_id": "NANDO:2200411", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "プラダー・ウィリ症候群", "nando_label_en": "Prader-Willi syndrome", "mondo_id": "MONDO:0008300", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64127", "ncbi_id": "64127", "genesymbol": "NOD2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200434", "nando_id": "NANDO:2200434", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ブラウ症候群", "nando_label_en": "Blau syndrome, early onset sarcoidosis", "mondo_id": "MONDO:0008523", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8660", "ncbi_id": "8660", "genesymbol": "IRS2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 15161933,15778465,17901049,21241768,23617393,26496610,28514442,33961781,36931259 | | | | | 15316008", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54551", "ncbi_id": "54551", "genesymbol": "MAGEL2", "go_terms": "protein binding | ubiquitin-protein transferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004842", "go_pmid_ids": "20864041,23452853,26365382,32296183 | 23452853", "nando": "http://nanbyodata.jp/ontology/NANDO_2200411", "nando_id": "NANDO:2200411", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "プラダー・ウィリ症候群", "nando_label_en": "Prader-Willi syndrome", "mondo_id": "MONDO:0008300", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5167", "ncbi_id": "5167", "genesymbol": "ENPP1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "7830796 | | | 12746903 | | | 11289049,26065921 | 10513816,11159191,25344812,7830796 | 7830796 | 22285541 | | 25344812 | 28964717,7830796 | | | 28592560 | 27467858 | | | | 7830796", "nando": "http://nanbyodata.jp/ontology/NANDO_2200461", "nando_id": "NANDO:2200461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型糖尿病", "nando_label_en": "Diabetes mellitus type 2", "mondo_id": "MONDO:0005148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3291", "ncbi_id": "3291", "genesymbol": "HSD11B2", "go_terms": "NAD binding | 11-beta-hydroxysteroid dehydrogenase (NAD+) activity | steroid binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0070523 | http://purl.obolibrary.org/obo/GO_0005496", "go_pmid_ids": " | 8538347 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200362", "nando_id": "NANDO:2200362", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "見かけの鉱質コルチコイド過剰症候群", "nando_label_en": "Apparent mineralocorticoid excess syndrome", "mondo_id": "MONDO:0009025", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3284", "ncbi_id": "3284", "genesymbol": "HSD3B2", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0004769 | http://purl.obolibrary.org/obo/GO_0005515 | 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"nando_label_en": "Mucopolysaccharidosis type I", "mondo_id": "MONDO:0001586", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3586", "ncbi_id": "3586", "genesymbol": "IL10", "go_terms": "protein dimerization activity | interleukin-10 receptor binding | protein binding | cytokine activity | growth factor activity", "go_ids": "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", "go_pmid_ids": "16982608 | 1847510 | 11485736,12513909,15837194,16982608,20462497,32296183 | 10443688,24994464 | 1371884", "nando": "http://nanbyodata.jp/ontology/NANDO_2200416", "nando_id": "NANDO:2200416", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全身性エリテマトーデス", "nando_label_en": "Systemic lupus erythematosus", "mondo_id": "MONDO:0007915", 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"go_terms": "protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930", "go_pmid_ids": "32296183 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200382", "nando_id": "NANDO:2200382", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "低ゴナドトロピン性性腺機能低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22800", "ncbi_id": "22800", "genesymbol": "RRAS2", "go_terms": "GTPase activity | GTP binding | protein binding | GDP binding", "go_ids": "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", "go_pmid_ids": "31130282 | | 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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", "go_pmid_ids": " | 12134079,17237713,19941651,22763445,25544563,32814053 | | | 9295267 | 18317235 | 10617131,10679303,10965052,11054422,12134079 | 10679303,10965052 | 18317235 | 11054422", "nando": "http://nanbyodata.jp/ontology/NANDO_2200573", "nando_id": "NANDO:2200573", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "神経セロイドリポフスチン症", "nando_label_en": "Neuronal ceroid lipofuscinoses", "mondo_id": "MONDO:0016295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1356", "ncbi_id": "1356", "genesymbol": "CP", "go_terms": "copper ion binding | protein-folding chaperone binding | glutathione peroxidase activity | phospholipid-hydroperoxide glutathione peroxidase activity | oxidoreductase activity, acting on metal ions, oxygen 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lipofuscinoses", "mondo_id": "MONDO:0016295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/138050", "ncbi_id": "138050", "genesymbol": "HGSNAT", "go_terms": "acyltransferase activity | heparan-alpha-glucosaminide N-acetyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0015019", "go_pmid_ids": "19823584,20650889 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200549", "nando_id": "NANDO:2200549", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ムコ多糖症III型", "nando_label_en": "Mucopolysaccharidosis type III", "mondo_id": "MONDO:0018937", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1630", "ncbi_id": "1630", "genesymbol": "DCC", "go_terms": "transmembrane signaling receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004888 | 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"mondo_id": "MONDO:0018883", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3630", "ncbi_id": "3630", "genesymbol": "INS", "go_terms": "insulin receptor binding | protein binding | hormone activity | identical protein binding | protease binding | insulin-like growth factor receptor binding", "go_ids": "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", "go_pmid_ids": "7556975,8452530,9667398 | 17051221,23302862,29512653,29764935,32296183,9388210,9773776 | 14986111,381941,9667398 | 17472440,20738396,22854022,23106816,23416304,23510797 | 20082125 | 8452530", "nando": "http://nanbyodata.jp/ontology/NANDO_2200462", "nando_id": "NANDO:2200462", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", 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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", "go_ids": "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", "go_pmid_ids": "28842488 | 8923010 | 20610380 | 20610380 | 12860923 | | 19805355,32296183 | | 19805355 | 18945825", "nando": "http://nanbyodata.jp/ontology/NANDO_2200462", "nando_id": "NANDO:2200462", 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10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715", "nando": "http://nanbyodata.jp/ontology/NANDO_2200413", "nando_id": "NANDO:2200413", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3988", "ncbi_id": "3988", "genesymbol": "LIPA", "go_terms": "lipase activity | sterol esterase activity | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": "1718995 | 15269241,1718995,7204383,8112342,9633819 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200570", "nando_id": "NANDO:2200570", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric 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"go_pmid_ids": "9806548 | 10627486,10652215,11063725,12649160,16189514,17060495,17289582,17396147,19102630,22458338,28514442,31467278,32296183,32814053,33961781,37398436", "nando": "http://nanbyodata.jp/ontology/NANDO_2200652", "nando_id": "NANDO:2200652", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ファンコニ貧血", "nando_label_en": "Fanconi anemia", "mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2253", "ncbi_id": "2253", "genesymbol": "FGF8", "go_terms": "type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity", "go_ids": "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", "go_pmid_ids": "16384934 | 16384934 | 17265164,8891346 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2253", "ncbi_id": "2253", "genesymbol": "FGF8", "go_terms": "type 2 fibroblast growth factor receptor binding | type 1 fibroblast growth factor receptor binding | growth factor activity | chemoattractant activity", "go_ids": "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", "go_pmid_ids": "16384934 | 16384934 | 17265164,8891346 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200382", "nando_id": "NANDO:2200382", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200382", "nando_id": "NANDO:2200382", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "低ゴナドトロピン性性腺機能低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2271", "ncbi_id": "2271", "genesymbol": "FH", "go_terms": "fumarate hydratase activity | protein binding | histone binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004333 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393", "go_pmid_ids": "26237645,29456767,30718813,30761759 | 25416956,26237645,32296183,39251607 | 26237645", "nando": "http://nanbyodata.jp/ontology/NANDO_2200520", "nando_id": "NANDO:2200520", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "フマラーゼ欠損症", "nando_label_en": "Fumarase deficiency", "mondo_id": "MONDO:0011730", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2353", "ncbi_id": "2353", "genesymbol": "FOS", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200465", "nando_id": "NANDO:2200465", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脂肪萎縮性糖尿病", "nando_label_en": "Lipoatrophic diabetes", "mondo_id": "MONDO:0018883", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2629", "ncbi_id": "2629", "genesymbol": "GBA1", "go_terms": "steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding", "go_ids": "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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_2200562", "nando_id": "NANDO:2200562", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ゴーシェ病", "nando_label_en": "Gaucher disease", "mondo_id": "MONDO:0018150", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2645", "ncbi_id": "2645", "genesymbol": "GCK", "go_terms": "mannokinase activity | glucose binding | glucokinase activity | glucose sensor activity | ATP binding | fructokinase activity | protein binding", "go_ids": "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", "go_pmid_ids": " | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200462", "nando_id": "NANDO:2200462", "nando_category": "小児慢性特定疾病", "nando_category_en": 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"ncbi_id": "2717", "genesymbol": "GLA", "go_terms": "protein binding | signaling receptor binding | protein homodimerization activity | catalytic activity | hydrolase activity | galactoside binding | alpha-galactosidase activity", "go_ids": "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", "go_pmid_ids": "1332979,21949853,33961781,6313412 | 1332979 | 6256390 | 39940 | 7911050 | | 10838196,16372133,27211852,39940,8804427", "nando": "http://nanbyodata.jp/ontology/NANDO_2200563", "nando_id": "NANDO:2200563", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ファブリー病", "nando_label_en": "Fabry disease", "mondo_id": "MONDO:0010526", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2720", "ncbi_id": "2720", "genesymbol": "GLB1", "go_terms": "protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166", "nando": "http://nanbyodata.jp/ontology/NANDO_2200558", "nando_id": "NANDO:2200558", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "GM1ガングリオシドーシス", "nando_label_en": "GM1 Gangliosidosis", "mondo_id": "MONDO:0018149", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2731", "ncbi_id": "2731", "genesymbol": "GLDC", "go_terms": "glycine binding | pyridoxal phosphate binding | glycine dehydrogenase (decarboxylating) activity | pyridoxal binding | lyase activity | electron transfer activity | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": " | | 28244183 | | | 2268343 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200476", "nando_id": "NANDO:2200476", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "非ケトーシス型高グリシン血症", "nando_label_en": "Nonketotic hyperglycinemia", "mondo_id": "MONDO:0011612", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2778", "ncbi_id": "2778", "genesymbol": "GNAS", "go_terms": "G protein activity | metal ion binding | adenylate cyclase regulator activity | 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http://purl.obolibrary.org/obo/GO_0031683", "go_pmid_ids": "10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200348", "nando_id": "NANDO:2200348", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "偽性偽性副甲状腺機能低下症", "nando_label_en": "Pseudopseudohypoparathyroidism", "mondo_id": "MONDO:0012912", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2778", "ncbi_id": "2778", "genesymbol": "GNAS", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10200251,17110384 | | 17110384 | | | 33571431 | | 9159128 | | 12719376,20852621,22177524,23353685,23994616,26823173,27120771,27621449,34110646 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200412", "nando_id": "NANDO:2200412", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "マッキューン・オルブライト症候群", "nando_label_en": "McCune-Albright syndrome", "mondo_id": "MONDO:0018919", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2798", "ncbi_id": "2798", "genesymbol": "GNRHR", "go_terms": "gonadotropin-releasing hormone receptor activity | peptide binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004968 | http://purl.obolibrary.org/obo/GO_0042277", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200382", "nando_id": "NANDO:2200382", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "低ゴナドトロピン性性腺機能低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6833", "ncbi_id": "6833", "genesymbol": "ABCC8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355", "nando": "http://nanbyodata.jp/ontology/NANDO_2200399", "nando_id": "NANDO:2200399", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性高インスリン血症", "nando_label_en": "Congenital hyperinsulinemia", "mondo_id": "MONDO:0017182", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6833", "ncbi_id": "6833", "genesymbol": "ABCC8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355", "nando": "http://nanbyodata.jp/ontology/NANDO_2200462", "nando_id": "NANDO:2200462", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年発症成人型糖尿病", "nando_label_en": "Maturity-onset diabetes of the young", "mondo_id": "MONDO:0018911", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4210", "ncbi_id": "4210", "genesymbol": "MEFV", "go_terms": "zinc ion binding | ubiquitin protein ligase activity | actin binding | protein binding | identical protein binding", "go_ids": "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", "go_pmid_ids": "11115844 | | 11468188 | 11498534,16785446,17964261,25006247,25127057,26347139,27030597 | 17964261,22829933,25006247", "nando": "http://nanbyodata.jp/ontology/NANDO_2200431", "nando_id": "NANDO:2200431", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性地中海熱", "nando_label_en": "Familial Mediterranean fever", "mondo_id": "MONDO:0018088", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4282", "ncbi_id": "4282", "genesymbol": "MIF", "go_terms": "identical protein binding | cytokine receptor binding | protein binding | protease binding | cytokine activity | chemoattractant activity | phenylpyruvate tautomerase activity | dopachrome isomerase activity", "go_ids": "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", "go_pmid_ids": "20534506,25416956,31515488,32296183 | 17045821,21817065 | 12681488,17526494,18677096,25416956,26280537,28726057,31515488 | | 12782713 | 19602265 | 16285950,21817065 | 17526494", "nando": "http://nanbyodata.jp/ontology/NANDO_2200415", "nando_id": "NANDO:2200415", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎", "nando_label_en": "Juvenile idiopathic arthritis", "mondo_id": "MONDO:0011429", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4352", "ncbi_id": "4352", "genesymbol": "MPL", "go_terms": "thrombopoietin receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0038164 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "25538044 | 24931576", "nando": "http://nanbyodata.jp/ontology/NANDO_2200643", "nando_id": "NANDO:2200643", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "真性多血症", "nando_label_en": "Polycythemia vera", "mondo_id": "MONDO:0009891", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4598", "ncbi_id": "4598", "genesymbol": "MVK", "go_terms": "ATP binding | protein binding | mevalonate kinase activity | magnesium ion binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 21044950,32296183 | 10369261,1377680,14680974,14730012,18302342,9325256 | | 16189514,25502805,26871637,31515488,32296183,9325256", "nando": "http://nanbyodata.jp/ontology/NANDO_2200436", "nando_id": "NANDO:2200436", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "高IgD症候群", "nando_label_en": "Hyper IgD syndrome", "mondo_id": "MONDO:0009849", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2908", "ncbi_id": "2908", "genesymbol": "NR3C1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200358", "nando_id": "NANDO:2200358", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "グルココルチコイド抵抗症", "nando_label_en": "Glucocorticoid resistance", "mondo_id": "MONDO:0014421", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4893", "ncbi_id": "4893", "genesymbol": "NRAS", "go_terms": "GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding", "go_ids": "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", "go_pmid_ids": "30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200413", "nando_id": "NANDO:2200413", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/284119", "ncbi_id": "284119", "genesymbol": "CAVIN1", "go_terms": "rRNA primary transcript binding | RNA binding | identical protein binding | protein binding", "go_ids": "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", "go_pmid_ids": "9582279 | 22658674 | 24013648,32296183 | 17026959,19525939,19726876,24013648,24567387,28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200465", "nando_id": "NANDO:2200465", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脂肪萎縮性糖尿病", "nando_label_en": "Lipoatrophic diabetes", "mondo_id": "MONDO:0018883", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7080", "ncbi_id": "7080", "genesymbol": "NKX2-1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "23143308 | 23382074 | 7635972 | 23143308 | 16960125,17220277,19176457,7559607,7713914 | 11152647,17474147,19010321 | | 17220277 | | 14960358,1735431,19176457,7559607", "nando": "http://nanbyodata.jp/ontology/NANDO_2200331", "nando_id": "NANDO:2200331", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "無甲状腺症", "nando_label_en": "Thyroid agenesis", "mondo_id": "MONDO:0019855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7253", "ncbi_id": "7253", "genesymbol": "TSHR", "go_terms": "protein binding | G protein-coupled peptide receptor activity | signaling receptor activity | protein-containing complex binding | thyroid-stimulating hormone receptor activity", "go_ids": "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", "go_pmid_ids": "15775968,28298427 | | 12045258 | 12045258 | 11847099", "nando": "http://nanbyodata.jp/ontology/NANDO_2200331", "nando_id": "NANDO:2200331", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "無甲状腺症", "nando_label_en": "Thyroid agenesis", "mondo_id": "MONDO:0019855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/123016", "ncbi_id": "123016", "genesymbol": "TTC8", "go_terms": "protein binding | RNA polymerase II-specific DNA-binding transcription factor binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061629", "go_pmid_ids": "14520415,16327777,17574030,18762586,24550735,24939912,25552655 | 22302990", "nando": "http://nanbyodata.jp/ontology/NANDO_2200414", "nando_id": "NANDO:2200414", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "バルデー・ビードル症候群", "nando_label_en": "Bardet-Biedl syndrome", "mondo_id": "MONDO:0015229", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55636", "ncbi_id": "55636", "genesymbol": "CHD7", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55636", "ncbi_id": "55636", "genesymbol": "CHD7", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0140849 | http://purl.obolibrary.org/obo/GO_0005515 | 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hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57697", "ncbi_id": "57697", "genesymbol": "FANCM", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 20347429 | | | 17289582,20347429,23932590,25416956,32296183,32769987,33961781 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200652", "nando_id": 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"NDNF", "go_terms": "heparin binding | glycosaminoglycan binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0005539", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79158", "ncbi_id": "79158", "genesymbol": "GNPTAB", "go_terms": "protein binding | calcium ion binding | UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0003976", "go_pmid_ids": "25416956,26385638,28514442,33961781,36074821 | | 19955174,23733939,25505245,25788519", "nando": 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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", "go_pmid_ids": "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 | | | 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"ncbi_id": "190", "genesymbol": "NR0B1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "19651776,32433991 | 15100213,17686645 | 17686645 | 10848616 | 16709599 | 12771131,16709599,16713569,17686645,25416956,25910212,32296183 | 19651776 | 11875111 | 9384387", "nando": "http://nanbyodata.jp/ontology/NANDO_2200357", "nando_id": 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pyoderma gangrenosum, acne syndrome", "mondo_id": "MONDO:0011462", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/659", "ncbi_id": "659", "genesymbol": "BMPR2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 21976273 | 26598555 | 26598555 | | | 12045205,15188402,15657086,19229295,19424179,21791611,21976273,24407287,33308444,36931259 | | | 19366699 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200298", "nando_id": "NANDO:2200298", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肺動脈性肺高血圧症", "nando_label_en": "Pulmonary arterial hypertension", "mondo_id": "MONDO:0015924", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/672", "ncbi_id": "672", "genesymbol": "BRCA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12419249 | 35351360 | 9662397 | | | 9662397 | | 15965487 | 12890688,17349954,19117993,20351172 | 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"mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/675", "ncbi_id": "675", "genesymbol": "BRCA2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "9824164 | 15314155 | 21601571,25282148 | 20729832 | 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| protein binding | SH3 domain binding | receptor tyrosine kinase binding | phosphotyrosine residue binding | calcium ion binding | phosphatidylinositol 3-kinase regulatory subunit binding", "go_ids": "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", "go_pmid_ids": "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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200413", "nando_id": "NANDO:2200413", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26580", "ncbi_id": "26580", "genesymbol": "BSCL2", "go_terms": "phospholipid binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005543 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "30293840 | 16189514,25416956,30901948,30970241,31515488,31708432,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_2200465", "nando_id": "NANDO:2200465", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脂肪萎縮性糖尿病", "nando_label_en": "Lipoatrophic diabetes", "mondo_id": "MONDO:0018883", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/256471", "ncbi_id": "256471", "genesymbol": "MFSD8", "go_terms": "fluoride channel activity | chloride channel activity | iodide transmembrane transporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0062054 | http://purl.obolibrary.org/obo/GO_0005254 | http://purl.obolibrary.org/obo/GO_0015111", "go_pmid_ids": "34910516 | 34910516 | 34910516", "nando": "http://nanbyodata.jp/ontology/NANDO_2200573", "nando_id": "NANDO:2200573", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "神経セロイドリポフスチン症", "nando_label_en": "Neuronal ceroid lipofuscinoses", "mondo_id": "MONDO:0016295", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26012", "ncbi_id": "26012", "genesymbol": "NSMF", "go_terms": "protein binding | calcium-dependent protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306", "go_pmid_ids": "32296183,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26012", "ncbi_id": "26012", "genesymbol": "NSMF", "go_terms": "protein binding | calcium-dependent protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0048306", "go_pmid_ids": "32296183,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200382", "nando_id": "NANDO:2200382", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "低ゴナドトロピン性性腺機能低下症", "nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7915", "ncbi_id": "7915", "genesymbol": "ALDH5A1", "go_terms": "succinate-semialdehyde dehydrogenase (NAD+) activity | identical protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004777 | http://purl.obolibrary.org/obo/GO_0042802", "go_pmid_ids": "16199352,7814412,9683595 | 16199352", "nando": "http://nanbyodata.jp/ontology/NANDO_2200599", "nando_id": "NANDO:2200599", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コハク酸セミアルデヒド脱水素酵素欠損症", "nando_label_en": "Succinic semialdehyde dehydrogenase deficiency", "mondo_id": "MONDO:0010083", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3030", "ncbi_id": "3030", "genesymbol": "HADHA", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 8135828 | | 8135828 | | 20562859,28514442,29915090,30850536,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200515", "nando_id": "NANDO:2200515", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "三頭酵素欠損症", "nando_label_en": "Trifunctional protein deficiency", "mondo_id": "MONDO:0012172", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3032", "ncbi_id": "3032", "genesymbol": "HADHB", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 8135828 | | 22658674 | 1550553 | 1550553 | | 20562859,21527675,28514442,29915090,30850536,32243843,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200515", "nando_id": "NANDO:2200515", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "三頭酵素欠損症", "nando_label_en": "Trifunctional protein deficiency", "mondo_id": "MONDO:0012172", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3043", "ncbi_id": "3043", "genesymbol": "HBB", "go_terms": "haptoglobin binding | metal ion binding | heme binding | hemoglobin binding | organic acid binding | peroxidase activity | protein binding | oxygen carrier activity | oxygen 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"mondo_id": "MONDO:0011382", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3106", "ncbi_id": "3106", "genesymbol": "HLA-B", "go_terms": "signaling receptor binding | protein-folding chaperone binding | protein binding | TAP binding | peptide antigen binding", "go_ids": "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", "go_pmid_ids": "20008523,8046333 | 15056662 | 12853576,19858347,24018270,26439010,27649529,28546555 | 8617941 | 22031944,23646949", "nando": "http://nanbyodata.jp/ontology/NANDO_2200423", "nando_id": "NANDO:2200423", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "高安動脈炎", "nando_label_en": "Takayasu arteritis", "mondo_id": "MONDO:0017991", "nando2mondo_match": "exactMatch" }, { "glycogene": 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"http://purl.obolibrary.org/obo/GO_0042605 | http://purl.obolibrary.org/obo/GO_0023026 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "20356827 | | 32296183,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_2200424", "nando_id": "NANDO:2200424", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "多発血管炎性肉芽腫症", "nando_label_en": "Granulomatosis with polyangiitis", "mondo_id": "MONDO:0012105", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3158", "ncbi_id": "3158", "genesymbol": "HMGCS2", "go_terms": "hydroxymethylglutaryl-CoA synthase activity | identical protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004421 | http://purl.obolibrary.org/obo/GO_0042802", "go_pmid_ids": "23751782 | 20346956", "nando": "http://nanbyodata.jp/ontology/NANDO_2200498", "nando_id": "NANDO:2200498", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症", "nando_label_en": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "mondo_id": "MONDO:0011614", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3172", "ncbi_id": "3172", "genesymbol": "HNF4A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200462", "nando_id": "NANDO:2200462", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年発症成人型糖尿病", "nando_label_en": "Maturity-onset diabetes of the young", "mondo_id": "MONDO:0018911", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3251", "ncbi_id": "3251", "genesymbol": "HPRT1", "go_terms": "magnesium ion binding | guanine phosphoribosyltransferase activity | hypoxanthine phosphoribosyltransferase activity | nucleotide binding | identical protein binding | protein binding", "go_ids": "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", "go_pmid_ids": "10360366 | 19527031,4208686 | 19527031,6300847,9521733 | | 25416956,25502805,31515488,32296183,8044844 | 16189514,19060904,25416956,25910212,31515488,32296183,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200586", "nando_id": "NANDO:2200586", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "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", "nando_label_en": "Lesch-Nyhan syndrome", "mondo_id": "MONDO:0010298", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/410", "ncbi_id": "410", "genesymbol": "ARSA", "go_terms": "protein binding | arylsulfatase activity | sulfuric ester hydrolase activity | calcium ion binding | cerebroside-sulfatase activity", "go_ids": "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", "go_pmid_ids": "21516116,25416956,25910212,26871637,32296183 | | 15962010 | 12888274 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200560", "nando_id": "NANDO:2200560", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "異染性白質ジストロフィー", "nando_label_en": "Metachromatic leukodystrophy", "mondo_id": "MONDO:0018868", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7849", "ncbi_id": "7849", "genesymbol": "PAX8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 9590296 | 9388203 | 9388203,9590296 | 15961562,8861958,9590296 | 28473536 | 19010321,20195357,32296183 | 15356023", "nando": "http://nanbyodata.jp/ontology/NANDO_2200330", "nando_id": "NANDO:2200330", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "異所性甲状腺", "nando_label_en": "Ectoic thyroid", "mondo_id": "MONDO:0019854", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7849", "ncbi_id": "7849", "genesymbol": "PAX8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 9590296 | 9388203 | 9388203,9590296 | 15961562,8861958,9590296 | 28473536 | 19010321,20195357,32296183 | 15356023", "nando": "http://nanbyodata.jp/ontology/NANDO_2200331", "nando_id": "NANDO:2200331", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "無甲状腺症", "nando_label_en": "Thyroid agenesis", "mondo_id": "MONDO:0019855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5091", "ncbi_id": "5091", "genesymbol": "PC", "go_terms": "identical protein binding | pyruvate carboxylase activity | ATP binding | biotin binding | metal ion binding | protein binding", "go_ids": "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", "go_pmid_ids": "18297087,34547241 | 12437512,9585002 | | 8048912 | | 23861867,34547241", "nando": "http://nanbyodata.jp/ontology/NANDO_2200519", "nando_id": "NANDO:2200519", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ピルビン酸カルボキシラーゼ欠損症", "nando_label_en": "Pyruvate carboxylase deficiency", "mondo_id": "MONDO:0009949", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5095", "ncbi_id": "5095", "genesymbol": "PCCA", "go_terms": "enzyme binding | metal ion binding | biotin binding | protein binding | ATP binding | propionyl-CoA carboxylase activity", "go_ids": "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", "go_pmid_ids": "19157941 | | 3460076 | 20725044,32296183,33961781 | | 6765947,8434582", "nando": "http://nanbyodata.jp/ontology/NANDO_2200492", "nando_id": "NANDO:2200492", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "プロピオン酸血症", "nando_label_en": "Propionic acidemia", "mondo_id": "MONDO:0011628", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5096", "ncbi_id": "5096", "genesymbol": "PCCB", "go_terms": "protein binding | propionyl-CoA carboxylase activity | ATP binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004658 | http://purl.obolibrary.org/obo/GO_0005524", "go_pmid_ids": "20725044,32296183,33961781 | 6765947 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200492", "nando_id": "NANDO:2200492", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "プロピオン酸血症", "nando_label_en": "Propionic acidemia", "mondo_id": "MONDO:0011628", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5105", "ncbi_id": "5105", "genesymbol": "PCK1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11851336 | 11851336,26971250,30193097,32322062 | 11851336 | 32322062 | 11851336 | 11851336", "nando": "http://nanbyodata.jp/ontology/NANDO_2200536", "nando_id": "NANDO:2200536", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ホスホエノールピルビン酸カルボキシキナーゼ欠損症", "nando_label_en": "Phosphoenolpyruvate carboxykinase deficiency", "mondo_id": "MONDO:0017320", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5106", "ncbi_id": "5106", "genesymbol": "PCK2", "go_terms": "protein binding | GTP binding | manganese ion binding | phosphoenolpyruvate carboxykinase activity | phosphoenolpyruvate carboxykinase (GTP) activity", "go_ids": "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", "go_pmid_ids": "21988832 | | 28955899 | 8645161 | 28955899,9657976", "nando": "http://nanbyodata.jp/ontology/NANDO_2200536", "nando_id": "NANDO:2200536", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ホスホエノールピルビン酸カルボキシキナーゼ欠損症", "nando_label_en": "Phosphoenolpyruvate carboxykinase deficiency", "mondo_id": "MONDO:0017320", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5195", "ncbi_id": "5195", "genesymbol": "PEX14", "go_terms": "protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200575", "nando_id": "NANDO:2200575", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ペルオキシソーム形成異常症", "nando_label_en": "Peroxisome biogenesis disorders", "mondo_id": "MONDO:0019234", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5265", "ncbi_id": "5265", "genesymbol": "SERPINA1", "go_terms": "protease binding | identical protein binding | protein binding | serine-type endopeptidase inhibitor activity", "go_ids": "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", "go_pmid_ids": "15853774 | 11057674,18923394,21909074,22405009 | 11057674,12860985,12878203,15271889,15845869,16192646,16321984,17380188,20477988,22115549,23826168,31142615,31358993,32814053,33741941 | 12878203,15795238", "nando": "http://nanbyodata.jp/ontology/NANDO_2200611", "nando_id": "NANDO:2200611", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "α1-アンチトリプシン欠損症", "nando_label_en": "Alpha-1-antitrypsin deficiency", "mondo_id": "MONDO:0013282", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5313", "ncbi_id": "5313", "genesymbol": "PKLR", "go_terms": "pyruvate kinase activity | kinase activity | monosaccharide binding | potassium ion binding | magnesium ion binding | ATP binding | protein binding", "go_ids": "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", "go_pmid_ids": "1445295 | | | | | | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200628", "nando_id": "NANDO:2200628", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ピルビン酸キナーゼ欠乏性貧血", "nando_label_en": "Hemolytic anemia due to red cell pyruvate kinase deficiency", "mondo_id": "MONDO:0009950", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5447", "ncbi_id": "5447", "genesymbol": "POR", "go_terms": "NADPH-hemoprotein reductase activity | flavin adenine dinucleotide binding | protein binding | FMN binding | NADP binding", "go_ids": "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", "go_pmid_ids": "10048323,19448135,2513880 | | 21081644,35271311 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200375", "nando_id": "NANDO:2200375", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "P450酸化還元酵素欠損症", "nando_label_en": "P450 oxidoreductase deficiency", "mondo_id": "MONDO:0013310", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5468", "ncbi_id": "5468", "genesymbol": "PPARG", "go_terms": "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 | 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200465", "nando_id": "NANDO:2200465", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脂肪萎縮性糖尿病", "nando_label_en": "Lipoatrophic diabetes", "mondo_id": "MONDO:0018883", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5657", "ncbi_id": "5657", "genesymbol": "PRTN3", "go_terms": "signaling receptor binding | enzyme binding | serine-type peptidase activity | serine-type endopeptidase activity | protein binding", "go_ids": "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", "go_pmid_ids": "17244676 | 17712045 | 2679910 | 11389039,22266279,23202369,28240246 | 16488976,28240246,30692621", "nando": "http://nanbyodata.jp/ontology/NANDO_2200424", "nando_id": "NANDO:2200424", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "多発血管炎性肉芽腫症", "nando_label_en": "Granulomatosis with polyangiitis", "mondo_id": "MONDO:0012105", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5781", "ncbi_id": "5781", "genesymbol": "PTPN11", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 15985432 | 10206955,15133037,17562706,22759635,23029125,26617336,26742426,28074573 | 15985432 | 7493946 | | | 15985432 | 10655584,16481357 | 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16669616,19438409,20980406,2204832,23219802,25012180,26049106,26823170,28387307,32296183 | 379653 | 28387307", "nando": "http://nanbyodata.jp/ontology/NANDO_2200622", "nando_id": "NANDO:2200622", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性球状赤血球症", "nando_label_en": "Hereditary spherocytosis", "mondo_id": "MONDO:0019350", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6654", "ncbi_id": "6654", "genesymbol": "SOS1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200413", "nando_id": "NANDO:2200413", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6655", "ncbi_id": "6655", "genesymbol": "SOS2", "go_terms": "protein heterodimerization activity | guanyl-nucleotide exchange factor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | | 14679214,17474147,19380743,20936779,21706016,21988832,28514442,31980649,33961781,7629138", "nando": "http://nanbyodata.jp/ontology/NANDO_2200413", "nando_id": "NANDO:2200413", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヌーナン症候群", "nando_label_en": "Noonan syndrome", "mondo_id": "MONDO:0018997", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6662", "ncbi_id": "6662", "genesymbol": "SOX9", "go_terms": "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 | 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20484372,20530484,21367821,22110751,31194875 | 20484372 | 10805756 | 20484372,21412441 | 28473536 | 20530484,22110751 | 31194875 | | 10805756,8640233 | 12810722,20530484,21346191,28263186 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200387", "nando_id": "NANDO:2200387", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "卵精巣性性分化疾患", "nando_label_en": "Ovotesticular dsd", "mondo_id": "MONDO:0016281", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6708", "ncbi_id": "6708", "genesymbol": "SPTA1", "go_terms": "calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding", "go_ids": "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", "go_pmid_ids": " | 12820899,20197550,32296183,33961781,9593709 | 1634521 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200622", "nando_id": "NANDO:2200622", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性球状赤血球症", "nando_label_en": "Hereditary spherocytosis", "mondo_id": "MONDO:0019350", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54756", "ncbi_id": "54756", "genesymbol": "IL17RD", "go_terms": "protein binding | interleukin-17 receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368", "go_pmid_ids": "33961781,34819669 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/389549", "ncbi_id": "389549", "genesymbol": "FEZF1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200381", "nando_id": "NANDO:2200381", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルマン症候群", "nando_label_en": "Kallmann syndrome", "mondo_id": "MONDO:0018800", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/29089", "ncbi_id": "29089", "genesymbol": "UBE2T", "go_terms": "chromatin binding | ATP binding | ubiquitin-protein transferase activity | protein binding | ubiquitin protein ligase binding | ubiquitin conjugating enzyme activity", "go_ids": "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", "go_pmid_ids": "17938197 | | 16916645,17938197,19111657,20061386 | 24389026,32814053 | 16916645,17938197,19111657 | 19589784", "nando": "http://nanbyodata.jp/ontology/NANDO_2200652", "nando_id": "NANDO:2200652", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ファンコニ貧血", "nando_label_en": "Fanconi anemia", "mondo_id": "MONDO:0019391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54790", "ncbi_id": "54790", "genesymbol": "TET2", "go_terms": "protein binding | methylcytosine dioxygenase activity | DNA binding | zinc ion binding | ferrous iron binding", "go_ids": "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", "go_pmid_ids": "23222540,23353889,25601757,28514442,29735542,32814053,33961781,34667079 | 21057493,23222540,24315485,32518946 | | 24315485 | 24315485", "nando": "http://nanbyodata.jp/ontology/NANDO_2200643", "nando_id": "NANDO:2200643", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "真性多血症", "nando_label_en": "Polycythemia vera", "mondo_id": "MONDO:0009891", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/27241", "ncbi_id": "27241", "genesymbol": "BBS9", "go_terms": "protein binding | molecular_function", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 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"nando_label_en": "Hypogonadotropic hypogonadism", "mondo_id": "MONDO:0018555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/56922", "ncbi_id": "56922", "genesymbol": "MCCC1", "go_terms": "ATP binding | biotin carboxylase activity | methylcrotonoyl-CoA carboxylase activity | metal ion binding | protein binding | biotin binding", "go_ids": "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", "go_pmid_ids": " | 22869039 | 11170888,11181649,11401427,17360195 | | 17360195,27499296,28514442,33961781 | 11401427", "nando": "http://nanbyodata.jp/ontology/NANDO_2200495", "nando_id": "NANDO:2200495", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "3-メチルクロトニルCoAカルボキシラーゼ欠損症", "nando_label_en": "3-methylcrotonyl-CoA carboxylase deficiency", "mondo_id": "MONDO:0018950", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8799", "ncbi_id": "8799", "genesymbol": "PEX11B", "go_terms": "identical protein binding | protein homodimerization activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "17408615 | 20826455 | 10704444,12096124,14709540,17408615,18782765,20531392,20826455,25416956,29997244,31467278,32814053,37398436", "nando": "http://nanbyodata.jp/ontology/NANDO_2200575", "nando_id": "NANDO:2200575", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ペルオキシソーム形成異常症", "nando_label_en": "Peroxisome biogenesis disorders", "mondo_id": "MONDO:0019234", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8504", "ncbi_id": "8504", "genesymbol": "PEX3", "go_terms": "protein binding | lipid binding | protein-macromolecule adaptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008289 | http://purl.obolibrary.org/obo/GO_0030674", "go_pmid_ids": "10704444,11883941,12096124,16189514,16280322,18174172,19715730,21102411,25416956,25502805,27107012,28514442,29997244,31467278,31515488,32296183,32814053,33961781,35271311,37398436,38225382 | 19715730 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200575", "nando_id": "NANDO:2200575", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ペルオキシソーム形成異常症", "nando_label_en": "Peroxisome biogenesis disorders", "mondo_id": "MONDO:0019234", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26060", "ncbi_id": "26060", "genesymbol": "APPL1", "go_terms": "protein homodimerization activity | phosphatidylinositol binding | beta-tubulin binding | 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calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_2200548", "nando_id": "NANDO:2200548", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ムコ多糖症II型", "nando_label_en": "Mucopolysaccharidosis type II", "mondo_id": "MONDO:0010674", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3480", "ncbi_id": "3480", "genesymbol": "IGF1R", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0031994 | http://purl.obolibrary.org/obo/GO_0005008 | 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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", "go_pmid_ids": "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 | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200320", "nando_id": "NANDO:2200320", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "インスリン様成長因子1不応症", "nando_label_en": "IGF1 insensitivity", "mondo_id": "MONDO:0010038", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3593", "ncbi_id": "3593", "genesymbol": "IL12B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11023671 | 7527811 | | 10899108,11023671,11114383,12023369,18680750,29997244,7527811 | 11023671,1674604 | 1674604,7584494 | 11114383 | 1674604,9603733 | 1674604 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200423", "nando_id": "NANDO:2200423", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "高安動脈炎", "nando_label_en": "Takayasu arteritis", "mondo_id": "MONDO:0017991", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/538", "ncbi_id": "538", "genesymbol": "ATP7A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200580", "nando_id": "NANDO:2200580", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "メンケス病", "nando_label_en": "Menkes disease", "mondo_id": "MONDO:0010651", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/538", "ncbi_id": "538", "genesymbol": "ATP7A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "14572476,15035611,31283225 | 10419525 | 15670166 | | | 19917612,9817923 | 16051599,16371425,16884690,21667063,23563491,26199316 | | | | 10497213,31283225 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200581", "nando_id": "NANDO:2200581", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "オクシピタル・ホーン症候群", "nando_label_en": "Occipital horn syndrome", "mondo_id": "MONDO:0010572", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/540", "ncbi_id": "540", "genesymbol": "ATP7B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 12029094,14709553 | 12968035,16554302,16676348,16884690,17919502 | 15205462,16567646 | 12763797,16472602,9837819 | | 26004889", "nando": "http://nanbyodata.jp/ontology/NANDO_2200579", "nando_id": "NANDO:2200579", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィルソン病", "nando_label_en": "Wilson disease", "mondo_id": "MONDO:0010200", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/554", "ncbi_id": "554", "genesymbol": "AVPR2", "go_terms": "protein binding | vasopressin receptor activity | peptide binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005000 | http://purl.obolibrary.org/obo/GO_0042277", "go_pmid_ids": "12409230,21056967,23236378,32296183 | 8882880,9322919 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200326", "nando_id": "NANDO:2200326", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腎性尿崩症", "nando_label_en": "Nephrogenic diabetes insipidus", "mondo_id": "MONDO:0016383", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/583", "ncbi_id": "583", "genesymbol": "BBS2", "go_terms": "RNA polymerase II-specific DNA-binding transcription factor binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0061629 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "22302990 | 16189514,16327777,17574030,18000879,18762586,20080638,22139371,22500027,25416956,25552655,27173435,28514442,29039417,32296183,33144677,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200414", "nando_id": "NANDO:2200414", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "バルデー・ビードル症候群", "nando_label_en": "Bardet-Biedl syndrome", "mondo_id": "MONDO:0015229", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3569", "ncbi_id": "3569", "genesymbol": "IL6", "go_terms": "identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding", "go_ids": "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", "go_pmid_ids": "8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960", "nando": "http://nanbyodata.jp/ontology/NANDO_2200851", "nando_id": "NANDO:2200851", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脳動静脈奇形", "nando_label_en": "Cerebral arteriovenous malformation", "mondo_id": "MONDO:0007154", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/58", "ncbi_id": "58", "genesymbol": "ACTA1", "go_terms": "ATP binding | hydrolase activity | ADP binding | myosin binding | structural constituent of cytoskeleton | protein binding", "go_ids": "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", "go_pmid_ids": "10508519 | | 10508519 | 10508519 | 10508519 | 12849983,18835984,28514442,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200868", "nando_id": "NANDO:2200868", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性筋線維不均等症", "nando_label_en": "Congenital fiber-type disproportion myopathy", "mondo_id": "MONDO:0009711", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10522", "ncbi_id": "10522", "genesymbol": "DEAF1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "24726472 | | | | 24726472 | 20368287,21988832,22442688,29636529,30824926,32296183,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200954", "nando_id": "NANDO:2200954", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/128674", "ncbi_id": "128674", "genesymbol": "PROKR2", "go_terms": "protein binding | neuropeptide Y receptor activity | G protein-coupled receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004983 | http://purl.obolibrary.org/obo/GO_0004930", "go_pmid_ids": "32296183 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200820", "nando_id": "NANDO:2200820", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "中隔視神経形成異常症", "nando_label_en": "Septo-optic dysplasia", "mondo_id": "MONDO:0008428", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/90", "ncbi_id": "90", "genesymbol": "ACVR1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 26598555 | 12065756 | 8242742 | 19506109,19736306,8242742 | | 19736306 | 11266516,18436533,21791611,31483918,8242742,8555189 | 26598555 | 12065756 | 8242742 | 12702211 | | 18436533 | 8242742 | 12065756 | 12065756", "nando": "http://nanbyodata.jp/ontology/NANDO_2201020", "nando_id": "NANDO:2201020", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "進行性骨化性線維異形成症", "nando_label_en": "Fibrodysplasia ossificans progressiva", "mondo_id": "MONDO:0007606", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1080", "ncbi_id": "1080", "genesymbol": "CFTR", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0071889 | http://purl.obolibrary.org/obo/GO_0015106 | http://purl.obolibrary.org/obo/GO_0005515 | 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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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200942", "nando_id": "NANDO:2200942", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1130", "ncbi_id": "1130", "genesymbol": "LYST", "go_terms": "protein binding | protein kinase binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901", "go_pmid_ids": "11984006 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200724", "nando_id": "NANDO:2200724", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "チェディアック・東症候群", "nando_label_en": "Chédiak-Higashi syndrome", "mondo_id": "MONDO:0008963", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1303", "ncbi_id": "1303", "genesymbol": "COL12A1", "go_terms": "extracellular matrix structural constituent conferring tensile strength", "go_ids": "http://purl.obolibrary.org/obo/GO_0030020", "go_pmid_ids": "1427837,20551380,23979707,25037231,28327460,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_2200862", "nando_id": "NANDO:2200862", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウルリヒ型先天性筋ジストロフィー", "nando_label_en": "Ullrich congenital muscular dystrophy", "mondo_id": "MONDO:0000355", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1291", "ncbi_id": "1291", "genesymbol": "COL6A1", "go_terms": "protein binding | platelet-derived growth factor binding | extracellular matrix structural constituent conferring tensile strength | collagen binding", "go_ids": "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", "go_pmid_ids": "33961781 | 8900172 | 20551380,25037231,27559042,28327460,28675934 | 18400749", "nando": "http://nanbyodata.jp/ontology/NANDO_2200862", "nando_id": "NANDO:2200862", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウルリヒ型先天性筋ジストロフィー", "nando_label_en": "Ullrich congenital muscular dystrophy", "mondo_id": "MONDO:0000355", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1292", "ncbi_id": "1292", "genesymbol": "COL6A2", "go_terms": "protein binding | extracellular matrix structural constituent conferring tensile strength | collagen binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030020 | http://purl.obolibrary.org/obo/GO_0005518", "go_pmid_ids": "12812986 | 20551380,25037231,27559042,28327460,28344315,28675934 | 18400749", "nando": "http://nanbyodata.jp/ontology/NANDO_2200862", "nando_id": "NANDO:2200862", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウルリヒ型先天性筋ジストロフィー", "nando_label_en": "Ullrich congenital muscular dystrophy", "mondo_id": "MONDO:0000355", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1293", "ncbi_id": "1293", "genesymbol": "COL6A3", "go_terms": "serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength", "go_ids": "http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020", "go_pmid_ids": " | 20551380,25037231,27559042,28327460,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_2200862", "nando_id": "NANDO:2200862", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウルリヒ型先天性筋ジストロフィー", "nando_label_en": "Ullrich congenital muscular dystrophy", "mondo_id": "MONDO:0000355", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1311", "ncbi_id": "1311", "genesymbol": "COMP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "11084047 | 17588949 | 12225811,15075323,16051604,16611630,17588949,18485748,25416956,31515488,32296183 | 18485748 | 29030641 | 17588949 | | | 10852928,11084047 | 20551380", "nando": "http://nanbyodata.jp/ontology/NANDO_2201018", "nando_id": "NANDO:2201018", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "偽性軟骨無形成症", "nando_label_en": "Pseudoachondroplasia", "mondo_id": "MONDO:0008322", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1476", "ncbi_id": "1476", "genesymbol": "CSTB", "go_terms": "cysteine-type endopeptidase inhibitor activity | protease binding | RNA binding | endopeptidase inhibitor activity", "go_ids": "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", "go_pmid_ids": "3488317,6203523 | 11514663,6203523 | 22658674 | 3053245", "nando": "http://nanbyodata.jp/ontology/NANDO_2200880", "nando_id": "NANDO:2200880", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウンフェルリヒト・ルントボルク病", "nando_label_en": "Unverricht-Lundborg disease", "mondo_id": "MONDO:0009698", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1501", "ncbi_id": "1501", "genesymbol": "CTNND2", "go_terms": "cadherin binding | protein binding | beta-catenin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0045296 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008013", "go_pmid_ids": " | 19706605,19706687,22022388,24550280,25009281,30126976 | 25807484", "nando": "http://nanbyodata.jp/ontology/NANDO_2200961", "nando_id": "NANDO:2200961", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "5p-症候群", "nando_label_en": "5p- syndrome", "mondo_id": "MONDO:0007404", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1861", "ncbi_id": "1861", "genesymbol": "TOR1A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "15505207,24930953 | 10814722 | 15147511,15505207,15767459,18167355,18827015,21102408,23569223,25416956,25910212,32296183,32814053,33961781 | 23569223 | | 20015956,24930953 | | 14970196 | 16361107,18827015", "nando": "http://nanbyodata.jp/ontology/NANDO_2200884", "nando_id": "NANDO:2200884", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "変形性筋ジストニー", "nando_label_en": "Dystonia musculorum deformans", "mondo_id": "MONDO:0007492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1991", "ncbi_id": "1991", "genesymbol": "ELANE", "go_terms": "protein binding | transcription corepressor activity | serine-type endopeptidase activity | heparin binding | peptidase activity | endopeptidase activity | cytokine binding | protease binding", "go_ids": "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", "go_pmid_ids": "12114510,12223522,14688365,19506020,21979170,25211214,33748632 | 19506020 | 29539421,36899106 | 11907569 | 11907569,20421939 | 12887060,6980881 | 12393522 | 6980881", "nando": "http://nanbyodata.jp/ontology/NANDO_2200746", "nando_id": "NANDO:2200746", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "周期性好中球減少症", "nando_label_en": "Cyclic neutropenia", "mondo_id": "MONDO:0008090", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3679", "ncbi_id": "3679", "genesymbol": "ITGA7", "go_terms": "metal ion binding | protein binding | integrin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178", "go_pmid_ids": " | 22779914 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200868", "nando_id": "NANDO:2200868", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性筋線維不均等症", "nando_label_en": "Congenital fiber-type disproportion myopathy", "mondo_id": "MONDO:0009711", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10008", "ncbi_id": "10008", "genesymbol": "KCNE3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12954870 | | | | 20533308 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201515", "nando_id": "NANDO:2201515", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性低カリウム性周期性四肢麻痺", "nando_label_en": "Hereditary hypokalemic periodic paralysis", "mondo_id": "MONDO:0008223", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3784", "ncbi_id": "3784", "genesymbol": "KCNQ1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200959", "nando_id": "NANDO:2200959", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ベックウィズ・ヴィーデマン症候群", "nando_label_en": "Beckwith-Wiedemann syndrome", "mondo_id": "MONDO:0007534", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3845", "ncbi_id": "3845", "genesymbol": "KRAS", "go_terms": "GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715", "nando": "http://nanbyodata.jp/ontology/NANDO_2200851", "nando_id": "NANDO:2200851", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脳動静脈奇形", "nando_label_en": "Cerebral arteriovenous malformation", "mondo_id": "MONDO:0007154", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10743", "ncbi_id": "10743", "genesymbol": "RAI1", "go_terms": "metal ion binding | protein binding | zinc ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008270", "go_pmid_ids": " | 16189514,25416956 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200954", "nando_id": "NANDO:2200954", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6729", "ncbi_id": "6729", "genesymbol": "SRP54", "go_terms": "endoplasmic reticulum signal peptide binding | 7S RNA binding | ATP hydrolysis activity | RNA binding | protein binding | GTP binding | ribonucleoprotein complex binding | GTPase activity | GDP binding", "go_ids": "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", "go_pmid_ids": "9511762 | 18089836,9511762 | | 22658674 | 24965446,33053321 | 8622769 | 9511762 | 28972538,8247130 | 8622769", "nando": "http://nanbyodata.jp/ontology/NANDO_2200756", "nando_id": "NANDO:2200756", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "シュワッハマン・ダイアモンド症候群", "nando_label_en": "Shwachman-Diamond syndrome", "mondo_id": "MONDO:0009833", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/50485", "ncbi_id": "50485", "genesymbol": "SMARCAL1", "go_terms": "ATP-dependent DNA/DNA annealing activity | helicase activity | hydrolase activity | protein binding | ATP binding | ATP-dependent activity, acting on DNA", "go_ids": "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", "go_pmid_ids": "18974355,22705370 | | | 19793862,19793863,24126761,24910198,24981860 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200711", "nando_id": "NANDO:2200711", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "シムケ症候群", "nando_label_en": "Schimke syndrome", "mondo_id": "MONDO:0009458", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/284111", "ncbi_id": "284111", "genesymbol": "SLC13A5", "go_terms": "citrate transmembrane transporter activity | organic acid:sodium symporter activity | sodium:dicarboxylate symporter activity | protein binding | succinate transmembrane transporter activity | identical protein binding", "go_ids": "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", "go_pmid_ids": "21264516,26176240,30054523 | 12445824,26324167,33597751 | | 28514442,32296183,33961781 | | 33597751", "nando": "http://nanbyodata.jp/ontology/NANDO_2201409", "nando_id": "NANDO:2201409", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ビタミンB6依存性てんかん", "nando_label_en": "Vitamine B6-dependent epilepsy", "mondo_id": "MONDO:0009945", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11330", "ncbi_id": "11330", "genesymbol": "CTRC", "go_terms": "protein binding | serine-type endopeptidase activity | peptidase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0008233", "go_pmid_ids": "25416956,28514442,32296183,33961781 | | 8635596", "nando": "http://nanbyodata.jp/ontology/NANDO_2200942", "nando_id": "NANDO:2200942", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23096", "ncbi_id": "23096", "genesymbol": "IQSEC2", "go_terms": "guanyl-nucleotide exchange factor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005085 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "26793055 | 30842726,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_2200954", "nando_id": "NANDO:2200954", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "スミス・マギニス症候群", "nando_label_en": "Smith-Magenis syndrome", "mondo_id": "MONDO:0008434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23347", "ncbi_id": "23347", "genesymbol": "SMCHD1", "go_terms": "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", "go_ids": "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 | 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4-alpha-N-acetylglucosaminyltransferase activity", "go_ids": "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", "go_pmid_ids": "12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275", "nando": "http://nanbyodata.jp/ontology/NANDO_2201014", "nando_id": "NANDO:2201014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "多発性軟骨性外骨腫症", "nando_label_en": "Multiple cartilaginous exostosis", "mondo_id": "MONDO:0005508", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2131", "ncbi_id": "2131", "genesymbol": 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binding | signaling receptor binding | protein binding | extracellular matrix structural constituent | cell adhesion molecule binding | metal ion binding", "go_ids": "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", "go_pmid_ids": "8910396 | | 7822297 | 10788510,21546586,26627825 | 25037231,28327460,28344315,28675934 | 7822297 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200672", "nando_id": "NANDO:2200672", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性フィブリノーゲン欠乏症", "nando_label_en": "Afibrinogenemia", "mondo_id": "MONDO:0008737", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2317", "ncbi_id": "2317", "genesymbol": "FLNB", "go_terms": "actin filament binding | RNA binding | actin binding | identical protein binding | cadherin binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 22681889 | 8327473 | 12393796 | 25468996 | 10644691,10676904,12393796,12577067,16076904,17474147,19270716", "nando": "http://nanbyodata.jp/ontology/NANDO_2201019", "nando_id": "NANDO:2201019", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ラーセン症候群", "nando_label_en": "Larsen syndrome", "mondo_id": "MONDO:0007875", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2670", "ncbi_id": "2670", "genesymbol": "GFAP", "go_terms": "identical protein binding | kinase binding | protein 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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", "go_ids": "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 | 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| | | | | | 10938133,16600381,17493635,21890893,23007646 | | | | | 9171108 | | | | | 7749984 | | 15771576 | | | | 19041327 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200702", "nando_id": "NANDO:2200702", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MHCクラスII欠損症", "nando_label_en": "MHC class II deficiency", "mondo_id": "MONDO:0008855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4352", "ncbi_id": "4352", "genesymbol": "MPL", "go_terms": "thrombopoietin receptor activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0038164 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "25538044 | 24931576", "nando": "http://nanbyodata.jp/ontology/NANDO_2200655", "nando_id": "NANDO:2200655", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "本態性血小板血症", "nando_label_en": "Essential thrombocythemia", "mondo_id": "MONDO:0005029", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4353", "ncbi_id": "4353", "genesymbol": "MPO", "go_terms": "heparin binding | peroxidase activity | heme binding | protein binding | metal ion binding | chromatin binding", "go_ids": "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", "go_pmid_ids": "11907569 | 10772654,11907569,24035742 | | 24355864,32814053,36417879 | | 2829220", "nando": "http://nanbyodata.jp/ontology/NANDO_2200758", "nando_id": "NANDO:2200758", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ミエロペルオキシダーゼ欠損症", "nando_label_en": "Myeloperoxidase deficiency", "mondo_id": "MONDO:0009694", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4683", "ncbi_id": "4683", "genesymbol": "NBN", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200706", "nando_id": "NANDO:2200706", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ナイミーヘン染色体不安定症候群", "nando_label_en": "Nijmegen breakage syndrome", "mondo_id": "MONDO:0009623", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4811", "ncbi_id": "4811", "genesymbol": "NID1", "go_terms": "extracellular matrix structural constituent | Wnt receptor activity | laminin binding | Wnt-protein binding | proteoglycan binding | laminin-1 binding | calcium ion binding | collagen binding", "go_ids": "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", "go_pmid_ids": "20551380,25037231,27068509,27559042,28675934 | | 22952693 | | 22952693 | | | 22952693", "nando": "http://nanbyodata.jp/ontology/NANDO_2200821", "nando_id": "NANDO:2200821", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ダンディー・ウォーカー症候群", "nando_label_en": "Dandy-Walker syndrome", "mondo_id": "MONDO:0009072", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4893", "ncbi_id": "4893", "genesymbol": "NRAS", "go_terms": "GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding", "go_ids": "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", "go_pmid_ids": "30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200827", "nando_id": "NANDO:2200827", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "神経皮膚黒色症", "nando_label_en": "Neurocutaneous melanosis", "mondo_id": "MONDO:0009578", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4914", "ncbi_id": "4914", "genesymbol": "NTRK1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200854", "nando_id": "NANDO:2200854", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性無痛無汗症", "nando_label_en": "Congenital insensitivity to pain with anhidrosis", "mondo_id": "MONDO:0009746", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23129", "ncbi_id": "23129", "genesymbol": "PLXND1", "go_terms": "semaphorin receptor activity | protein domain specific binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0017154 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 24841563 | 17318185,24139859,24841563,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200980", "nando_id": "NANDO:2200980", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "メビウス症候群", "nando_label_en": "Moebius syndrome", "mondo_id": "MONDO:0008006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9723", "ncbi_id": "9723", "genesymbol": "SEMA3E", "go_terms": "receptor ligand activity | chemorepellent activity | semaphorin receptor binding | protein binding | neuropilin binding", "go_ids": "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", "go_pmid_ids": "25985275 | | 25985275 | 17318185 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200972", "nando_id": "NANDO:2200972", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "チャージ症候群", "nando_label_en": "CHARGE syndrome", "mondo_id": "MONDO:0008965", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9037", "ncbi_id": "9037", "genesymbol": "SEMA5A", "go_terms": "heparan sulfate proteoglycan binding | chemorepellent activity | semaphorin receptor binding | chondroitin sulfate proteoglycan binding | syndecan binding", "go_ids": "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", "go_pmid_ids": " | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200961", "nando_id": "NANDO:2200961", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "5p-症候群", "nando_label_en": "5p- syndrome", "mondo_id": "MONDO:0007404", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7010", "ncbi_id": "7010", "genesymbol": "TEK", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 10766762 | | | 11513602 | | | | | | | 8382358 | | | | | | 15893672,15985432,16732286,19167335,19451274,19922791,20708158,28620713,29106382,8980223 | | | | 19424712 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201027", "nando_id": "NANDO:2201027", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "青色ゴムまり様母斑症候群", "nando_label_en": "Blue rubber bleb nevus syndrome", "mondo_id": "MONDO:0007203", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7040", "ncbi_id": "7040", "genesymbol": "TGFB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200970", "nando_id": "NANDO:2200970", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カムラティ・エンゲルマン症候群", "nando_label_en": "Camurati-Engelmann disease", "mondo_id": "MONDO:0007542", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7157", "ncbi_id": "7157", "genesymbol": "TP53", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | 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endopeptidase activity | protein binding | calcium ion binding | serine-type peptidase activity | metalloendopeptidase activity", "go_ids": "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", "go_pmid_ids": "12709065,12731883 | 16192646 | 12709065 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200942", "nando_id": "NANDO:2200942", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性膵炎", "nando_label_en": "Hereditary pancreatitis", "mondo_id": "MONDO:0008185", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5651", "ncbi_id": "5651", "genesymbol": "TMPRSS15", "go_terms": "serine-type endopeptidase activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004252 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 24407287", "nando": "http://nanbyodata.jp/ontology/NANDO_2200910", "nando_id": "NANDO:2200910", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "エンテロキナーゼ欠損症", "nando_label_en": "Enterokinase deficiency", "mondo_id": "MONDO:0009173", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5727", "ncbi_id": "5727", "genesymbol": "PTCH1", "go_terms": "smoothened binding | protein binding | heparin binding | patched binding | hedgehog family protein binding | protein-containing complex binding | cholesterol binding | cyclin binding | hedgehog receptor activity", "go_ids": "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 | 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"exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6329", "ncbi_id": "6329", "genesymbol": "SCN4A", "go_terms": "protein binding | voltage-gated sodium channel activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248", "go_pmid_ids": "30190309 | 12766226,30190309", "nando": "http://nanbyodata.jp/ontology/NANDO_2201514", "nando_id": "NANDO:2201514", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性高カリウム性周期性四肢麻痺", "nando_label_en": "Hereditary hyperkalemic periodic paralysis", "mondo_id": "MONDO:0008224", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6329", "ncbi_id": "6329", "genesymbol": "SCN4A", "go_terms": "protein binding | voltage-gated sodium channel activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005248", "go_pmid_ids": "30190309 | 12766226,30190309", "nando": 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binding | protein sequestering activity | patched binding", "go_ids": "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", "go_pmid_ids": " | | | 36202993 | 19592253,21659505 | | 9811851", "nando": "http://nanbyodata.jp/ontology/NANDO_2201401", "nando_id": "NANDO:2201401", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "視床下部過誤腫症候群", "nando_label_en": "Hypothalamic hamartoma syndrome", "mondo_id": "MONDO:0009436", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6657", "ncbi_id": "6657", "genesymbol": "SOX2", "go_terms": "DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity, RNA 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"nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "中隔視神経形成異常症", "nando_label_en": "Septo-optic dysplasia", "mondo_id": "MONDO:0008428", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64324", "ncbi_id": "64324", "genesymbol": "NSD1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0042799 | 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http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0008198", "go_pmid_ids": "23222540,23353889,25601757,28514442,29735542,32814053,33961781,34667079 | 21057493,23222540,24315485,32518946 | | 24315485 | 24315485", "nando": "http://nanbyodata.jp/ontology/NANDO_2200655", "nando_id": "NANDO:2200655", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "本態性血小板血症", "nando_label_en": "Essential thrombocythemia", "mondo_id": "MONDO:0005029", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8270", "ncbi_id": "8270", "genesymbol": "LAGE3", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "25416956,27903914,28514442,31481669,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2201385", "nando_id": "NANDO:2201385", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific 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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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200833", "nando_id": "NANDO:2200833", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ハッチンソン・ギルフォード症候群", "nando_label_en": "Hutchinson-Gilford syndrome", "mondo_id": "MONDO:0008310", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8643", "ncbi_id": "8643", "genesymbol": "PTCH2", "go_terms": "hedgehog receptor activity | smoothened binding | hedgehog family protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008158 | http://purl.obolibrary.org/obo/GO_0005119 | http://purl.obolibrary.org/obo/GO_0097108", "go_pmid_ids": "11001584 | 9811851 | 11001584,9811851", "nando": "http://nanbyodata.jp/ontology/NANDO_2200828", "nando_id": "NANDO:2200828", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ゴーリン症候群", "nando_label_en": "Gorlin syndrome", "mondo_id": "MONDO:0007187", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26154", "ncbi_id": "26154", "genesymbol": "ABCA12", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253", "nando": "http://nanbyodata.jp/ontology/NANDO_2200992", "nando_id": "NANDO:2200992", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "道化師様魚鱗癬", "nando_label_en": "Harlequin ichthyosis", "mondo_id": "MONDO:0009443", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7957", "ncbi_id": "7957", "genesymbol": "EPM2A", "go_terms": "histone H2AXY142 phosphatase activity | RNA 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"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", "go_pmid_ids": " | | 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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200881", "nando_id": "NANDO:2200881", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ラフォラ病", "nando_label_en": "Lafora disease", "mondo_id": "MONDO:0009697", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3339", "ncbi_id": "3339", "genesymbol": "HSPG2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "21289173 | 20551380,23979707,25037231,27559042,28327460,28675934 | 21289173 | 21126803 | | 11956183,12604605,21596751,23374253 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200876", "nando_id": "NANDO:2200876", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "シュワルツ・ヤンペル症候群", "nando_label_en": "Schwartz-Jampel syndrome", "mondo_id": "MONDO:0009717", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3417", "ncbi_id": "3417", "genesymbol": "IDH1", "go_terms": "protein homodimerization activity | cadherin binding | NAD binding | isocitrate dehydrogenase (NADP+) 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"NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450", "go_pmid_ids": " | | 22416140,23226729", "nando": "http://nanbyodata.jp/ontology/NANDO_2201015", "nando_id": "NANDO:2201015", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "内軟骨腫症", "nando_label_en": "Enchondromatosis", "mondo_id": "MONDO:0008145", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3481", "ncbi_id": "3481", "genesymbol": "IGF2", "go_terms": "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", "go_ids": 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L-aminoadipate-semialdehyde dehydrogenase activity | identical protein binding | aldehyde dehydrogenase (NAD+) activity | betaine-aldehyde dehydrogenase activity", "go_ids": "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", "go_pmid_ids": "21988832,32296183 | | 20207735,32296183 | 20207735,21338592 | 20207735", "nando": "http://nanbyodata.jp/ontology/NANDO_2201409", "nando_id": "NANDO:2201409", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ビタミンB6依存性てんかん", "nando_label_en": "Vitamine B6-dependent epilepsy", "mondo_id": "MONDO:0009945", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/205717", "ncbi_id": "205717", "genesymbol": "USF3", "go_terms": "DNA-binding transcription activator activity, RNA polymerase II-specific | RNA 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"genesymbol": "SEC23B", "go_terms": "GTPase activator activity | zinc ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005096 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | | 16189514,21516116,25416956,26522472,27551091,31515488,32296183,32814053,33961781,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_2200918", "nando_id": "NANDO:2200918", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カウデン症候群", "nando_label_en": "Cowden syndrome", "mondo_id": "MONDO:0016063", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10512", "ncbi_id": "10512", "genesymbol": "SEMA3C", "go_terms": "semaphorin receptor binding | neuropilin binding | chemorepellent activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | 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"Specific pediatric chronic disease", "nando_label": "腸管神経節細胞僅少症", "nando_label_en": "Congenital Isolated Hypoganglionosis", "mondo_id": "MONDO:0018309", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10695", "ncbi_id": "10695", "genesymbol": "CNPY3", "go_terms": "signaling receptor binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 28514442,32296183,32814053,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/59", "ncbi_id": "59", "genesymbol": "ACTA2", "go_terms": "protein binding | protein kinase binding | ATP binding | hydrolase activity", "go_ids": "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", "go_pmid_ids": "28514442,33961781 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200850", "nando_id": "NANDO:2200850", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "もやもや病", "nando_label_en": "Moyamoya disease", "mondo_id": "MONDO:0016820", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10320", "ncbi_id": "10320", "genesymbol": "IKZF1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0046872 | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201034", "nando_id": "NANDO:2201034", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性出血性末梢血管拡張症", "nando_label_en": "Hereditary hemorrhagic telangiectasia", "mondo_id": "MONDO:0019180", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1106", "ncbi_id": "1106", "genesymbol": "CHD2", "go_terms": "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 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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", "go_pmid_ids": "10677296 | 17703188 | 28344315,28675934,7859284,8838804 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201016", "nando_id": "NANDO:2201016", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "2型コラーゲン異常症関連疾患", "nando_label_en": "Type II collagenopathy", "mondo_id": "MONDO:0016068", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1297", "ncbi_id": "1297", "genesymbol": "COL9A1", "go_terms": "protein binding | carbohydrate binding | protein homodimerization activity | extracellular matrix structural constituent conferring tensile strength | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0042803 | 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"ncbi_id": "1312", "genesymbol": "COMT", "go_terms": "O-methyltransferase activity | catechol O-methyltransferase activity | methyltransferase activity | protein binding | magnesium ion binding", "go_ids": "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", "go_pmid_ids": "1707278 | 11559542,15645182,21846718 | | 16189514,19060904,25416956,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200712", "nando_id": "NANDO:2200712", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0018923", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1356", "ncbi_id": "1356", "genesymbol": "CP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 19996109 | 10481051,10508415 | 10481051,10508415 | 14623105 | | 14623105,16150804,29183916", "nando": "http://nanbyodata.jp/ontology/NANDO_1201152", "nando_id": "NANDO:1201152", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "無セルロプラスミン血症", "nando_label_en": "Aceruloplasminemia", "mondo_id": "MONDO:0011426", "nando2mondo_match": "exactMatch" }, { "glycogene": 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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", "go_pmid_ids": "21131905 | | | | 24939902 | 11742995,12456660,15273251,16135789,24939902 | | 15509593,15674325 | | 9194565 | 11001584,16043483,21539536 | | 10362258,11742995 | 28386764 | 21539536 | | | 38128537 | 21131905 | | | 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"ルビンシュタイン・テイビ症候群", "nando_label_en": "Rubinstein-Taybi syndrome", "mondo_id": "MONDO:0019188", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10297", "ncbi_id": "10297", "genesymbol": "APC2", "go_terms": "protein binding | beta-catenin binding | microtubule binding | gamma-catenin binding", "go_ids": "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", "go_pmid_ids": "10644998,10646860 | 9823329 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200953", "nando_id": "NANDO:2200953", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ソトス症候群", "nando_label_en": "Sotos syndrome", "mondo_id": "MONDO:0019349", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1536", "ncbi_id": "1536", "genesymbol": "CYBB", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12042318 | 36413210,38355798 | | 12042318,12716910 | 12042318 | 36413210,38355798 | 15338276,36241643,36413210,38355798 | 9774399 | 11477065,12034764 | 9774399 | 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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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200710", "nando_id": "NANDO:2200710", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "RIDDLE症候群", "nando_label_en": "RIDDLE syndrome", "mondo_id": "MONDO:0012764", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1654", "ncbi_id": "1654", "genesymbol": "DDX3X", "go_terms": "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 | 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201395", "nando_id": "NANDO:2201395", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "DDX3X関連神経発達異常症", "nando_label_en": "DDX3X-related neurodevelopmental disorder", "mondo_id": "MONDO:0010497", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1717", "ncbi_id": "1717", "genesymbol": "DHCR7", "go_terms": "7-dehydrocholesterol reductase activity | cholesterol-5,6-oxide hydrolase activity | NADP binding | protein binding", "go_ids": "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", "go_pmid_ids": "38297129,38297130,9465114 | 20615952 | | 25637936,32694168", "nando": "http://nanbyodata.jp/ontology/NANDO_2200979", "nando_id": "NANDO:2200979", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "スミス・レムリ・オピッツ症候群", "nando_label_en": "Smith-Lemli-Opitz syndrome", "mondo_id": "MONDO:0010035", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1736", "ncbi_id": "1736", "genesymbol": "DKC1", "go_terms": "box H/ACA snoRNA binding | telomerase RNA binding | protein binding | pseudouridine synthase activity | telomerase activity | RNA binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200715", "nando_id": "NANDO:2200715", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性角化異常症", "nando_label_en": "Dyskeratosis congenita", "mondo_id": "MONDO:0015780", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1756", "ncbi_id": "1756", "genesymbol": "DMD", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200856", "nando_id": "NANDO:2200856", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "デュシェンヌ型筋ジストロフィー", "nando_label_en": "Duchenne muscular dystrophy", "mondo_id": "MONDO:0010679", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1759", "ncbi_id": "1759", "genesymbol": "DNM1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200879", "nando_id": "NANDO:2200879", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "レノックス・ガストー症候群", "nando_label_en": "Lennox-Gastaut syndrome", "mondo_id": "MONDO:0016532", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1785", "ncbi_id": "1785", "genesymbol": "DNM2", "go_terms": "SH3 domain binding | microtubule binding | GTP binding | GTPase activity | enzyme binding | protein binding | membrane scission GTPase motor activity | phosphatidylinositol-4,5-bisphosphate binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200855", "nando_id": "NANDO:2200855", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性運動感覚ニューロパチー", "nando_label_en": "Hereditary Motor and Sensory Neuropathy", "mondo_id": "MONDO:0015626", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1889", "ncbi_id": "1889", "genesymbol": "ECE1", "go_terms": "zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846", "nando": "http://nanbyodata.jp/ontology/NANDO_2200945", "nando_id": "NANDO:2200945", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1889", "ncbi_id": "1889", "genesymbol": "ECE1", "go_terms": "zinc ion binding | metalloendopeptidase activity | peptide hormone binding | endopeptidase activity | protein binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "18992253 | 8062389 | 7864876 | 18039931,7805846 | 25416956,32296183 | 7805846", "nando": "http://nanbyodata.jp/ontology/NANDO_2200948", "nando_id": "NANDO:2200948", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腸管神経節細胞僅少症", "nando_label_en": "Congenital Isolated Hypoganglionosis", "mondo_id": "MONDO:0018309", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1910", "ncbi_id": "1910", "genesymbol": "EDNRB", "go_terms": "endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding", "go_ids": "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", "go_pmid_ids": "1713452,19767294,28236341 | 1713452 | | 23597562", "nando": "http://nanbyodata.jp/ontology/NANDO_2200945", "nando_id": "NANDO:2200945", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1910", "ncbi_id": "1910", "genesymbol": "EDNRB", "go_terms": "endothelin receptor activity | peptide hormone binding | type 1 angiotensin receptor binding | protein binding", "go_ids": "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", "go_pmid_ids": "1713452,19767294,28236341 | 1713452 | | 23597562", "nando": "http://nanbyodata.jp/ontology/NANDO_2200948", "nando_id": "NANDO:2200948", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腸管神経節細胞僅少症", "nando_label_en": "Congenital Isolated Hypoganglionosis", "mondo_id": "MONDO:0018309", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10000", "ncbi_id": "10000", "genesymbol": "AKT3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | | 16540465 | | | | | | 16540465 | | | | 12176997,17544405,19713527,20059950,25036637,25241761,33961781 | | 10092583 | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201394", "nando_id": "NANDO:2201394", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "片側巨脳症", "nando_label_en": "Hemimegaloencephaly", "mondo_id": "MONDO:0020492", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3679", "ncbi_id": "3679", "genesymbol": "ITGA7", "go_terms": "metal ion binding | protein binding | integrin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005178", "go_pmid_ids": " | 22779914 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200861", "nando_id": "NANDO:2200861", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "メロシン欠損型先天性筋ジストロフィー", "nando_label_en": "Merosin-deficient congenital muscular dystrophy", "mondo_id": "MONDO:0011925", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3845", "ncbi_id": "3845", "genesymbol": "KRAS", "go_terms": "GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715", "nando": "http://nanbyodata.jp/ontology/NANDO_2200967", "nando_id": "NANDO:2200967", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "CFC症候群", "nando_label_en": "CFC Syndrome", "mondo_id": "MONDO:0015280", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3908", "ncbi_id": "3908", "genesymbol": "LAMA2", "go_terms": "extracellular matrix structural constituent | signaling receptor binding | structural molecule activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005201 | http://purl.obolibrary.org/obo/GO_0005102 | http://purl.obolibrary.org/obo/GO_0005198", "go_pmid_ids": "25037231,27068509,27559042,28675934 | | 2185464", "nando": "http://nanbyodata.jp/ontology/NANDO_2200861", "nando_id": "NANDO:2200861", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "メロシン欠損型先天性筋ジストロフィー", "nando_label_en": "Merosin-deficient congenital muscular dystrophy", "mondo_id": "MONDO:0011925", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6792", "ncbi_id": "6792", "genesymbol": "CDKL5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/223117", "ncbi_id": "223117", "genesymbol": "SEMA3D", "go_terms": "semaphorin receptor binding | neuropilin binding | chemorepellent activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499", "go_pmid_ids": " | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200945", "nando_id": "NANDO:2200945", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ヒルシュスプルング病", "nando_label_en": "Hirschsprung disease", "mondo_id": "MONDO:0018309", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/223117", "ncbi_id": "223117", "genesymbol": "SEMA3D", "go_terms": "semaphorin receptor binding | neuropilin binding | chemorepellent activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0030215 | http://purl.obolibrary.org/obo/GO_0038191 | http://purl.obolibrary.org/obo/GO_0045499", "go_pmid_ids": " | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200948", "nando_id": "NANDO:2200948", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腸管神経節細胞僅少症", "nando_label_en": "Congenital Isolated Hypoganglionosis", "mondo_id": "MONDO:0018309", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6812", "ncbi_id": "6812", "genesymbol": "STXBP1", "go_terms": "protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding", "go_ids": "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", "go_pmid_ids": " | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6892", "ncbi_id": "6892", "genesymbol": "TAPBP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "36104323 | 12788224 | 12047747,12788224,22638925 | 12788224 | 12213826,15793001,17055437,18802093,19201886,22810586 | 12047747,12788224,22638925 | 17947644 | 17947644 | 12788224 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200701", "nando_id": "NANDO:2200701", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MHCクラスI欠損症", "nando_label_en": "MHC class I deficiency", "mondo_id": "MONDO:0011476", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6925", "ncbi_id": "6925", "genesymbol": "TCF4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200929", "nando_id": "NANDO:2200929", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "原発性硬化性胆管炎", "nando_label_en": "Primary sclerosing cholangitis", "mondo_id": "MONDO:0013433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64581", "ncbi_id": "64581", "genesymbol": "CLEC7A", "go_terms": "metal ion binding | (1->3)-beta-D-glucan binding | MHC protein binding | pattern recognition receptor activity | identical protein binding | carbohydrate binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 22267217,24721111,25251945 | 11567029 | 11567029 | 32296183 | 11567029 | 21516116,23674515,25416956,31515488,31875558,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200764", "nando_id": "NANDO:2200764", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23236", "ncbi_id": "23236", "genesymbol": "PLCB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23236", "ncbi_id": "23236", "genesymbol": "PLCB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12799190 | | | 12821674 | 12799190 | 11118617,9188725 | 25416956 | | 1322796 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201408", "nando_id": "NANDO:2201408", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遊走性焦点発作を伴う乳児てんかん", "nando_label_en": "Epilepsy of infancy with migrating focal seizures", "mondo_id": "MONDO:0017385", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25939", "ncbi_id": "25939", "genesymbol": "SAMHD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318", "nando": "http://nanbyodata.jp/ontology/NANDO_2200893", "nando_id": "NANDO:2200893", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "エカルディ・グティエール症候群", "nando_label_en": "Aicardi-Goutières Syndrome", "mondo_id": "MONDO:0018866", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23512", "ncbi_id": "23512", "genesymbol": "SUZ12", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200957", "nando_id": "NANDO:2200957", "nando_category": "小児慢性特定疾病", 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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", "go_ids": "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 | 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"mondo_id": "MONDO:0011365", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64421", "ncbi_id": "64421", "genesymbol": "DCLRE1C", "go_terms": "5'-3' exonuclease activity | damaged DNA binding | endonuclease activity | 5'-3' DNA exonuclease activity | protein binding | single-stranded DNA endodeoxyribonuclease activity", "go_ids": "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", "go_pmid_ids": "11955432 | | | | 22529269,23219551,23523427,25941166,28780862,33961781 | 11955432", "nando": "http://nanbyodata.jp/ontology/NANDO_2200697", "nando_id": "NANDO:2200697", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "オーメン症候群", "nando_label_en": "Omenn syndrome", "mondo_id": "MONDO:0011338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/115650", "ncbi_id": "115650", "genesymbol": "TNFRSF13C", "go_terms": "signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_2200717", "nando_id": "NANDO:2200717", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23495", "ncbi_id": "23495", "genesymbol": "TNFRSF13B", "go_terms": "protein binding | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "10801128,10880535,10956646,20676093,25416956,25910212,32296183 | 9311921", "nando": "http://nanbyodata.jp/ontology/NANDO_2200717", "nando_id": "NANDO:2200717", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25836", "ncbi_id": "25836", "genesymbol": "NIPBL", "go_terms": "transcription corepressor activity | histone deacetylase binding | cohesin loader activity | chromo shadow domain binding | chromatin binding | mediator complex binding | promoter-specific chromatin binding | protein binding", "go_ids": "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", "go_pmid_ids": "18854353 | 18854353 | 22628566 | 15882967 | | | | 16682347,16802858,17577209,21934712,22628566,26496610", "nando": "http://nanbyodata.jp/ontology/NANDO_2200958", "nando_id": "NANDO:2200958", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de Lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11152", "ncbi_id": "11152", "genesymbol": "WDR45", "go_terms": "protein binding | phosphatidylinositol-3,5-bisphosphate binding | protein kinase binding | protein-macromolecule adaptor activity | phosphatidylinositol phosphate binding | phosphatidylinositol-3-phosphate binding", "go_ids": "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 | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200955", "nando_id": "NANDO:2200955", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ルビンシュタイン・テイビ症候群", "nando_label_en": "Rubinstein-Taybi syndrome", "mondo_id": "MONDO:0019188", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2073", "ncbi_id": "2073", "genesymbol": "ERCC5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "32522879,32821917 | 12644470,8090225 | 12644470 | | 16246722 | 16246722,32821917 | 10026181 | 12644470,8090225 | 12644470,8090225 | 32821917 | 9927729 | 11259578 | 15358233,16246722,17268471,26833090,8652557,9305916,9927729", "nando": "http://nanbyodata.jp/ontology/NANDO_2201002", "nando_id": "NANDO:2201002", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "色素性乾皮症", "nando_label_en": "Xeroderma pigmentosum", "mondo_id": "MONDO:0019600", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2146", "ncbi_id": "2146", "genesymbol": "EZH2", "go_terms": "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 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http://purl.obolibrary.org/obo/GO_0022849 | http://purl.obolibrary.org/obo/GO_0016595", "go_pmid_ids": "17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201400", "nando_id": "NANDO:2201400", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "GRIN2B関連神経発達異常症", "nando_label_en": "GRIN2B-related neurodevelopmental disorder", "mondo_id": "MONDO:0013509", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2904", "ncbi_id": "2904", "genesymbol": "GRIN2B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "17047094 | 11937501,17047094,17997397,19453375,20018661,24550280,28130356,30126976,34321660,35914814 | | 26719327 | | 17526495,24272827,26919761,38538865 | 19666514 | 26875626,27839871 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201400", "nando_id": "NANDO:2201400", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "GRIN2B関連神経発達異常症", "nando_label_en": "GRIN2B-related neurodevelopmental disorder", "mondo_id": "MONDO:0014505", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4204", "ncbi_id": "4204", "genesymbol": "MECP2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200825", "nando_id": "NANDO:2200825", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "レット症候群", "nando_label_en": "Rett syndrome", "mondo_id": "MONDO:0010726", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4204", "ncbi_id": "4204", "genesymbol": "MECP2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 9620804 | | 20405910 | | | | | 20405910 | 10773092 | | 32698189 | | 17296936 | | | 22658674 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200984", "nando_id": "NANDO:2200984", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MECP2重複症候群", "nando_label_en": "MECP2 duplication syndrome", "mondo_id": "MONDO:0010283", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4297", "ncbi_id": "4297", "genesymbol": "KMT2A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200958", "nando_id": "NANDO:2200958", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コルネリア・デランゲ症候群", "nando_label_en": "Cornelia de Lange syndrome", "mondo_id": "MONDO:0016033", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4359", "ncbi_id": "4359", "genesymbol": "MPZ", "go_terms": "structural molecule activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005198", "go_pmid_ids": "7693129", "nando": "http://nanbyodata.jp/ontology/NANDO_2200855", "nando_id": "NANDO:2200855", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性運動感覚ニューロパチー", "nando_label_en": "Hereditary Motor and Sensory Neuropathy", "mondo_id": "MONDO:0015626", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4485", "ncbi_id": "4485", "genesymbol": "MST1", "go_terms": "protein binding | endopeptidase activity | serine-type endopeptidase activity | histone kinase activity | receptor tyrosine kinase binding", "go_ids": "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", "go_pmid_ids": "22087277,25193665,32296183 | | | | 22087277", "nando": "http://nanbyodata.jp/ontology/NANDO_2200929", "nando_id": "NANDO:2200929", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "原発性硬化性胆管炎", "nando_label_en": "Primary sclerosing cholangitis", "mondo_id": "MONDO:0013433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4615", "ncbi_id": "4615", "genesymbol": "MYD88", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200763", "nando_id": "NANDO:2200763", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MyD88欠損症", "nando_label_en": "MyD88 deficiency", "mondo_id": "MONDO:0012839", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4763", "ncbi_id": "4763", "genesymbol": "NF1", "go_terms": "GTPase activator activity | phosphatidylethanolamine binding | protein binding | phosphatidylcholine binding", "go_ids": "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", "go_pmid_ids": "1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824", "nando": "http://nanbyodata.jp/ontology/NANDO_2201003", "nando_id": "NANDO:2201003", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "レックリングハウゼン病", "nando_label_en": "von Recklinghausen's disease", "mondo_id": "MONDO:0018975", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4790", "ncbi_id": "4790", "genesymbol": "NFKB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200717", "nando_id": "NANDO:2200717", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4791", "ncbi_id": "4791", "genesymbol": "NFKB2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1760839,1876189 | 28473536 | 11239468,11526476,14743216,16108830,18617892,21988832,25609649,25852190,28514442,33961781,35140242,35271311,8441377 | 12835724 | | 12835724", "nando": "http://nanbyodata.jp/ontology/NANDO_2200717", "nando_id": "NANDO:2200717", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4860", "ncbi_id": "4860", "genesymbol": "PNP", "go_terms": "protein binding | purine-nucleoside phosphorylase activity | purine nucleobase binding | guanosine phosphorylase activity | nucleoside binding | identical protein binding | phosphate ion binding", "go_ids": "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", "go_pmid_ids": "32814053 | 16930574,16964310,18938130,23438750,3029074,6771276,9305962 | 9305962 | | 9305962 | 20212140,25502805,31515488,32296183 | 18938130", "nando": "http://nanbyodata.jp/ontology/NANDO_2200698", "nando_id": "NANDO:2200698", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "プリンヌクレオシドホスホリラーゼ欠損症", "nando_label_en": "Purine nucleoside phosphorylase deficiency", "mondo_id": "MONDO:0013171", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4869", "ncbi_id": "4869", "genesymbol": "NPM1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200715", "nando_id": "NANDO:2200715", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性角化異常症", "nando_label_en": "Dyskeratosis congenita", "mondo_id": "MONDO:0015780", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4915", "ncbi_id": "4915", "genesymbol": "NTRK2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | 17341134,35384245,35840571 | | | | | 11738045 | | | 15494731 | | 26094765 | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/274", "ncbi_id": "274", "genesymbol": "BIN1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200867", "nando_id": "NANDO:2200867", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ミオチュブラーミオパチー", "nando_label_en": "Myotubular myopathy", "mondo_id": "MONDO:0018947", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9632", "ncbi_id": "9632", "genesymbol": "SEC24C", "go_terms": "zinc ion binding | SNARE binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0000149 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "18843296 | 18843296 | 10075675,15899885,16189514,17428803,18692470,25416956,30842662,31515488,33961781,35271311", "nando": "http://nanbyodata.jp/ontology/NANDO_2200712", "nando_id": "NANDO:2200712", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200969", "nando_id": "NANDO:2200969", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ロイス・ディーツ症候群", "nando_label_en": "Loeys-Dietz syndrome", "mondo_id": "MONDO:0018954", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7048", "ncbi_id": "7048", "genesymbol": "TGFBR2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200969", "nando_id": "NANDO:2200969", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ロイス・ディーツ症候群", "nando_label_en": "Loeys-Dietz syndrome", "mondo_id": "MONDO:0018954", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/355", "ncbi_id": "355", "genesymbol": "FAS", "go_terms": "calmodulin binding | identical protein binding | tumor necrosis factor receptor activity | signaling receptor activity | kinase binding | protein binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200726", "nando_id": "NANDO:2200726", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "自己免疫性リンパ増殖症候群", "nando_label_en": "Autoimmune lymphoproliferative syndrome", "mondo_id": "MONDO:0017979", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/356", "ncbi_id": "356", "genesymbol": "FASLG", "go_terms": "signaling receptor binding | death receptor binding | cytokine activity | tumor necrosis factor receptor binding | protein binding", "go_ids": "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", "go_pmid_ids": "7826947 | | 9333124 | | 12198154,12887920,16318909,16498403,16595635,17761170,19807924,21803845,24025841,25241761,25416956,26871637,28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2200726", "nando_id": "NANDO:2200726", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "自己免疫性リンパ増殖症候群", "nando_label_en": "Autoimmune lymphoproliferative syndrome", "mondo_id": "MONDO:0017979", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/221037", "ncbi_id": "221037", "genesymbol": "JMJD1C", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0051213 | http://purl.obolibrary.org/obo/GO_0005515 | 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http://purl.obolibrary.org/obo/GO_0004843 | http://purl.obolibrary.org/obo/GO_0031593 | http://purl.obolibrary.org/obo/GO_0036435", "go_pmid_ids": "11574150,17681147,18775313,20414249,21645854,25959826,26712280,32296183,32814053,33961781,35271311 | 9063746 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200712", "nando_id": "NANDO:2200712", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0018923", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57468", "ncbi_id": "57468", "genesymbol": "SLC12A5", "go_terms": "metal ion binding | potassium:chloride symporter activity | protein kinase binding | ammonium transmembrane transporter activity | chloride transmembrane transporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0015379 | http://purl.obolibrary.org/obo/GO_0019901 | 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"exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57674", "ncbi_id": "57674", "genesymbol": "RNF213", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "32139119,33842849 | 25416956 | | | | | | | 21799892,24658080,26126547 | 21799892,26766444 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200850", "nando_id": "NANDO:2200850", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "もやもや病", "nando_label_en": "Moyamoya disease", "mondo_id": "MONDO:0016820", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/57492", "ncbi_id": "57492", "genesymbol": "ARID1B", "go_terms": "DNA binding | transcription coactivator activity | nucleosome binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 11734557 | | 12200431,33961781,35271311,36950384", "nando": "http://nanbyodata.jp/ontology/NANDO_2200977", "nando_id": "NANDO:2200977", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コフィン・シリス症候群", "nando_label_en": "Coffin-Siris syndrome", "mondo_id": "MONDO:0015452", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/84818", "ncbi_id": "84818", "genesymbol": "IL17RC", "go_terms": "signaling receptor binding | coreceptor activity | protein binding | interleukin-17 receptor activity", "go_ids": "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", "go_pmid_ids": " | 20554964 | 24120361,28827714 | 17911633", "nando": "http://nanbyodata.jp/ontology/NANDO_2200764", "nando_id": "NANDO:2200764", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", 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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", "go_ids": "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", "go_pmid_ids": " | | 20130577,20453063,23285124 | | | | | | | | | | | | | 17299439 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200697", "nando_id": "NANDO:2200697", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "オーメン症候群", "nando_label_en": "Omenn syndrome", "mondo_id": "MONDO:0011338", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/103", "ncbi_id": "103", "genesymbol": "ADAR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_2200893", "nando_id": "NANDO:2200893", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "エカルディ・グティエール症候群", "nando_label_en": "Aicardi-Goutières Syndrome", "mondo_id": "MONDO:0018866", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9126", "ncbi_id": "9126", "genesymbol": "SMC3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 11590136 | | 11590136 | | | 11590136 | 11590136 | | 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| 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", "go_ids": "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 | 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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", "go_pmid_ids": 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22797923 | 10983986 | | | | | 29104511 | 21711983 | 31204173 | 10102273 | | | 33505021 | | | | | | 21177249 | | 14749367 | | | 19203586 | 10376603 | | 21177249", "nando": "http://nanbyodata.jp/ontology/NANDO_2200918", "nando_id": "NANDO:2200918", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カウデン症候群", "nando_label_en": "Cowden syndrome", "mondo_id": "MONDO:0016063", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/224", "ncbi_id": "224", "genesymbol": "ALDH3A2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "25047030 | 18035827,25047030 | 25047030 | 15110319,8528251,9133646 | | 18035827 | 18035827,25047030", "nando": "http://nanbyodata.jp/ontology/NANDO_2200994", "nando_id": "NANDO:2200994", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "シェーグレン・ラルソン症候群", "nando_label_en": "Sjögren-Larsson syndrome", "mondo_id": "MONDO:0010031", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/249", "ncbi_id": "249", "genesymbol": "ALPL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12162492,33821301 | | | 12162492,19874193 | 11395499 | 2220817 | 12162492,2220817 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201012", "nando_id": "NANDO:2201012", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "低ホスファターゼ症", "nando_label_en": "Hypophosphatasia", "mondo_id": "MONDO:0018570", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7290", "ncbi_id": "7290", "genesymbol": "HIRA", "go_terms": "nucleosome binding | transcription corepressor activity | RNA polymerase II-specific DNA-binding transcription factor binding | histone binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 9731536 | 9731536 | 9731536 | 11342215,16980972,19029251,24981860,26496610,33961781,9710638", "nando": "http://nanbyodata.jp/ontology/NANDO_2200712", "nando_id": "NANDO:2200712", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "胸腺低形成", "nando_label_en": "Thymus hypoplasia", "mondo_id": "MONDO:0018923", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23765", "ncbi_id": "23765", "genesymbol": "IL17RA", "go_terms": "protein binding | interleukin-17 receptor activity | signaling receptor binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030368 | http://purl.obolibrary.org/obo/GO_0005102", "go_pmid_ids": "21993848,23695682,24120361,28827714,32353859,33060197,33723527 | 27184415,33723527,9367539 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200764", "nando_id": "NANDO:2200764", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9401", "ncbi_id": "9401", "genesymbol": "RECQL4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201527", "nando_id": "NANDO:2201527", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ロスムンド・トムソン症候群", "nando_label_en": "Rothmund-Thomson syndrome", "mondo_id": "MONDO:0010002", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/657", "ncbi_id": "657", "genesymbol": "BMPR1A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 18184661 | 9136927 | | 12065756 | 18436533 | | | 12065756 | 12065756 | 10881198,11278302,15064755,16127465,16672363,18436533,19229295,19804412,20860622,21054789,21543859,21791611,21976273,24098149,24904118,25938661,33308444 | 12065756 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200916", "nando_id": "NANDO:2200916", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性ポリポーシス", "nando_label_en": "Juvenile polyposis", "mondo_id": "MONDO:0017380", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/695", "ncbi_id": "695", "genesymbol": "BTK", "go_terms": "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", "go_ids": 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"X連鎖無ガンマグロブリン血症", "nando_label_en": "X-linked agammaglobulinemia", "mondo_id": "MONDO:0010421", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7403", "ncbi_id": "7403", "genesymbol": "KDM6A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | 17178841,24981860,27705803,32296183,33961781,34667079", "nando": "http://nanbyodata.jp/ontology/NANDO_2200956", "nando_id": "NANDO:2200956", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "歌舞伎症候群", "nando_label_en": "Kabuki syndrome", "mondo_id": "MONDO:0016512", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7456", "ncbi_id": "7456", "genesymbol": "WIPF1", "go_terms": "SH3 domain binding | profilin binding | protein binding | actin binding | cytoskeletal anchor activity | protein folding chaperone", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200704", "nando_id": "NANDO:2200704", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィスコット・オルドリッチ症候群", "nando_label_en": "Wiskott-Aldrich syndrome", "mondo_id": "MONDO:0010518", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7508", "ncbi_id": "7508", "genesymbol": "XPC", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201002", "nando_id": "NANDO:2201002", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "色素性乾皮症", "nando_label_en": "Xeroderma pigmentosum", "mondo_id": "MONDO:0019600", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7535", "ncbi_id": "7535", "genesymbol": "ZAP70", "go_terms": "protein binding | ATP binding | phosphotyrosine residue binding | signaling receptor binding | non-membrane spanning protein tyrosine kinase activity | protein tyrosine kinase activity", "go_ids": 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binding | amyloid-beta binding | metal ion binding | high voltage-gated calcium channel activity | voltage-gated calcium channel activity | protein binding | calcium ion binding", "go_ids": "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", "go_pmid_ids": "8692999 | 23376566 | | 21883149,23376566,24836863,26716990 | 10753886,12451115,21883149 | 11865310,21078624,33539324,8692999 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200883", "nando_id": "NANDO:2200883", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "小児交互性片麻痺", "nando_label_en": "Alternating hemiplegia of childhood", "mondo_id": "MONDO:0016241", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/930", "ncbi_id": "930", "genesymbol": "CD19", "go_terms": "", "go_ids": "", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_2200717", "nando_id": "NANDO:2200717", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "分類不能型免疫不全症", "nando_label_en": "Common variable immunodeficiency", "mondo_id": "MONDO:0015517", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/112744", "ncbi_id": "112744", "genesymbol": "IL17F", "go_terms": "cytokine activity | protein heterodimerization activity | cytokine binding | protein homodimerization activity | protein binding | cytokine receptor binding", "go_ids": "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", "go_pmid_ids": "11591732 | | 11574464 | 11574464 | 25416956,28827714 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200764", "nando_id": "NANDO:2200764", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性皮膚粘膜カンジダ症", "nando_label_en": "Chronic mucocutaneous candidiasis", "mondo_id": "MONDO:0015279", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/925", "ncbi_id": "925", "genesymbol": "CD8A", "go_terms": "MHC class I protein binding | coreceptor activity | protein kinase binding | MHC class I protein complex binding | protein binding", "go_ids": "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", "go_pmid_ids": "11131152 | 11131152 | | 2784196,9177355 | 12853576,2470098,2493728,9177355", "nando": 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| | 19561609,29954986,29995851,30139912 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200818", "nando_id": "NANDO:2200818", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "裂脳症", "nando_label_en": "Schizencephaly", "mondo_id": "MONDO:0010011", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6487", "ncbi_id": "6487", "genesymbol": "ST3GAL3", "go_terms": "sialyltransferase activity | beta-galactoside (CMP) alpha-2,3-sialyltransferase activity | protein binding | N-acetyllactosaminide alpha-2,3-sialyltransferase activity", "go_ids": "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", "go_pmid_ids": " | | 32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": 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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", "go_pmid_ids": "28473536 | | 19497856 | 15141091 | | 19497856 | | 16670092 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 15141091 | 15141091", "nando": "http://nanbyodata.jp/ontology/NANDO_2201391", "nando_id": "NANDO:2201391", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "鰓耳腎症候群", "nando_label_en": "Branchio-oto-renal syndrome", "mondo_id": "MONDO:0018878", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6507", "ncbi_id": "6507", "genesymbol": "SLC1A3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 7521911 | 20477940,8123008 | | 26690923,28032905,8123008 | 32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200883", "nando_id": "NANDO:2200883", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "小児交互性片麻痺", "nando_label_en": "Alternating hemiplegia of childhood", "mondo_id": "MONDO:0016241", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6578", "ncbi_id": "6578", 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"Hereditary Motor and Sensory Neuropathy", "mondo_id": "MONDO:0015626", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64324", "ncbi_id": "64324", "genesymbol": "NSD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496", "nando": "http://nanbyodata.jp/ontology/NANDO_2200953", "nando_id": "NANDO:2200953", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ソトス症候群", "nando_label_en": "Sotos syndrome", "mondo_id": "MONDO:0019349", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64324", "ncbi_id": "64324", "genesymbol": "NSD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 11509567 | | | 20837538,21196496 | 20837538 | | | | 20080798,30021884,32296183,35271311,39009827 | 11509567 | 21196496", "nando": "http://nanbyodata.jp/ontology/NANDO_2200957", "nando_id": "NANDO:2200957", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィーバー症候群", "nando_label_en": "Weaver syndrome", "mondo_id": "MONDO:0010193", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8573", "ncbi_id": "8573", "genesymbol": "CASK", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0035979 | http://purl.obolibrary.org/obo/GO_0044022 | http://purl.obolibrary.org/obo/GO_0072518 | 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http://purl.obolibrary.org/obo/GO_0004677 | http://purl.obolibrary.org/obo/GO_0140855 | http://purl.obolibrary.org/obo/GO_0072354", "go_pmid_ids": " | | | | | | | | | | | | | | 11377421,15694377,16688213,18423203,21763699,22153505,24366813,25416956,25852190,29892012,32296183,32707033,33961781,35914814,36012204,39009827,9660868 | | 9660868 | | | | | 18423203 | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201393", "nando_id": "NANDO:2201393", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ＣＡＳＫ異常症", "nando_label_en": "CASK abnormality", "mondo_id": "MONDO:0010417", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/196528", "ncbi_id": "196528", "genesymbol": "ARID2", "go_terms": "zinc ion binding | metal ion binding | protein binding | DNA binding", "go_ids": "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", "go_pmid_ids": " | | 15985610,22140357,24981860,30108113,31759698,33961781,34591612,35271311 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200977", "nando_id": "NANDO:2200977", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コフィン・シリス症候群", "nando_label_en": "Coffin-Siris syndrome", "mondo_id": "MONDO:0015452", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/170302", "ncbi_id": "170302", "genesymbol": "ARX", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22194193,31691806 | | 21653829,34356104 | | 16301625 | 22194193 | 31691806 | 28473536", "nando": "http://nanbyodata.jp/ontology/NANDO_2200878", "nando_id": "NANDO:2200878", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "点頭てんかん", "nando_label_en": "West syndrome", "mondo_id": "MONDO:0018097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/29072", "ncbi_id": "29072", "genesymbol": "SETD2", "go_terms": "metal ion binding | protein-lysine 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"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", "go_pmid_ids": "20551380,25037231,27559042,28675934 | 10930463,9660815 | 9660815 | 9660815 | 12429738,19349279,21078624,27339457 | 9660815 | 9660815", "nando": "http://nanbyodata.jp/ontology/NANDO_2200856", "nando_id": "NANDO:2200856", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "デュシェンヌ型筋ジストロフィー", "nando_label_en": "Duchenne muscular dystrophy", "mondo_id": "MONDO:0010679", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4089", "ncbi_id": "4089", "genesymbol": "SMAD4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200916", "nando_id": "NANDO:2200916", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性ポリポーシス", "nando_label_en": "Juvenile polyposis", "mondo_id": "MONDO:0017380", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4089", "ncbi_id": "4089", "genesymbol": "SMAD4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201034", "nando_id": "NANDO:2201034", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性出血性末梢血管拡張症", "nando_label_en": "Hereditary hemorrhagic telangiectasia", "mondo_id": "MONDO:0019180", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8085", "ncbi_id": "8085", "genesymbol": "KMT2D", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 16603732 | | | | 15960975,16603732,17178841,17500065,22266653,22665483,22722839,24981860,26886794,27705803,33640491,33961781,37725512,39009827 | | 9247308", "nando": "http://nanbyodata.jp/ontology/NANDO_2200956", "nando_id": "NANDO:2200956", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "歌舞伎症候群", "nando_label_en": "Kabuki syndrome", "mondo_id": "MONDO:0016512", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/477", "ncbi_id": "477", "genesymbol": "ATP1A2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "23954377 | 23954377 | 19372756,20100892 | 23954377 | | 23954377 | 10636900,12539047,18052210,18728015,20100892,23954377 | | 10636900 | 23954377 | 14742675 | 23954377", "nando": "http://nanbyodata.jp/ontology/NANDO_2200883", "nando_id": "NANDO:2200883", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "小児交互性片麻痺", "nando_label_en": "Alternating hemiplegia of childhood", "mondo_id": "MONDO:0016241", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/546", "ncbi_id": "546", "genesymbol": "ATRX", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 12953102 | | | | | 21421568 | | | 10699177,12953102,17296936,22102817,22391447,24651726,24981860,25417162,26373281,26496610,27029610,33961781 | 20211137,22391447 | | 27029610 | | 15882967 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200839", "nando_id": "NANDO:2200839", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ATR-X症候群", "nando_label_en": "ATR-X syndrome", "mondo_id": "MONDO:0010519", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/567", "ncbi_id": "567", "genesymbol": "B2M", "go_terms": "identical protein binding | MHC class II protein complex binding | peptide antigen binding | structural molecule activity | protein binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200701", "nando_id": "NANDO:2200701", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MHCクラスI欠損症", "nando_label_en": "MHC class I deficiency", "mondo_id": "MONDO:0011476", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/63982", "ncbi_id": "63982", "genesymbol": "ANO3", "go_terms": "protein dimerization activity | chloride channel activity | intracellular calcium activated chloride channel activity | phospholipid scramblase activity", "go_ids": "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", "go_pmid_ids": " | | 21984732 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201143", "nando_id": "NANDO:1201143", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT24 ジストニア", "nando_label_en": "DYT24 Dystonia", "mondo_id": "MONDO:0014019", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1293", "ncbi_id": "1293", "genesymbol": "COL6A3", "go_terms": "serine-type endopeptidase inhibitor activity | extracellular matrix structural constituent conferring tensile strength", "go_ids": "http://purl.obolibrary.org/obo/GO_0004867 | http://purl.obolibrary.org/obo/GO_0030020", "go_pmid_ids": " | 20551380,25037231,27559042,28327460,28675934", "nando": "http://nanbyodata.jp/ontology/NANDO_1201146", "nando_id": "NANDO:1201146", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "DYT27 ジストニア", "nando_label_en": "DYT27 Dystonia", "mondo_id": "MONDO:0014627", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/340061", "ncbi_id": "340061", "genesymbol": "STING1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0035438 | 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10585425,19912772 | 19912772,8845167 | 11937501,19968958,23903368,32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6792", "ncbi_id": "6792", "genesymbol": "CDKL5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9721213 | | 21653829,28514442,32296183,33961781 | | 15917271 | 16935860 | 16935860", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6812", "ncbi_id": "6812", "genesymbol": "STXBP1", "go_terms": "protein kinase binding | RNA binding | SNARE binding | identical protein binding | syntaxin-1 binding | syntaxin binding | protein domain specific binding | protein binding | phospholipase binding", "go_ids": "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", "go_pmid_ids": " | 22658674 | | | 12730201,19748891 | 12773094 | | 16049941,17500595,25416956,25910212,26635000,32296183,32814053,33961781 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6949", "ncbi_id": "6949", "genesymbol": "TCOF1", "go_terms": "protein heterodimerization activity | scaffold protein binding | protein binding | RNA binding | protein-macromolecule adaptor activity", "go_ids": "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", "go_pmid_ids": "26399832 | 23203802 | 17620599,23602568,25064736,26399832,32707033,32814053,36411431 | 22658674,22681889 | 26399832", "nando": "http://nanbyodata.jp/ontology/NANDO_2201526", "nando_id": "NANDO:2201526", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "トリーチャーコリンズ症候群", "nando_label_en": "Treacher Collins syndrome", "mondo_id": "MONDO:0002457", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23312", "ncbi_id": "23312", "genesymbol": "DMXL2", "go_terms": "small GTPase binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0031267", "go_pmid_ids": "11809763", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric 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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", "go_pmid_ids": " | | 26134396 | 24252804 | 26134396 | 31996848 | 23202360 | | | 22645275,27278822 | 22361905,23202360 | 22361905,23202360", "nando": "http://nanbyodata.jp/ontology/NANDO_1201153", "nando_id": "NANDO:1201153", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Kufor-Rakeb症候群", "nando_label_en": "Kufor-Rakeb syndrome", "mondo_id": "MONDO:0011706", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2554", "ncbi_id": "2554", "genesymbol": "GABRA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | 23909897,2538761,30602789,9039914 | | | 23909897,30602789", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2562", "ncbi_id": "2562", "genesymbol": "GABRB3", "go_terms": "identical protein binding | neurotransmitter receptor activity | GABA-A receptor activity | chloride channel activity | GABA-gated chloride ion channel activity", "go_ids": "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", "go_pmid_ids": "16537435,24909990 | | 14993607,22303015,30602789 | | 22303015,26950270,30602789,9039914", "nando": "http://nanbyodata.jp/ontology/NANDO_2201398", "nando_id": "NANDO:2201398", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "大田原症候群", "nando_label_en": "Ohtahara syndrome", "mondo_id": "MONDO:0100062", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/150094", "ncbi_id": "150094", "genesymbol": "SIK1", "go_terms": "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", "go_ids": "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 | 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| 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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200047", "nando_id": "NANDO:2200047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肝細胞癌", "nando_label_en": "Hepatocellular carcinoma", "mondo_id": "MONDO:0007256", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1499", "ncbi_id": "1499", "genesymbol": "CTNNB1", "go_terms": "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 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| 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", "go_pmid_ids": "12799378,16344550 | | | 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| 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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200090", "nando_id": "NANDO:2200090", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "髄芽腫", "nando_label_en": "Medulloblastoma", "mondo_id": "MONDO:0007959", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1497", "ncbi_id": "1497", "genesymbol": "CTNS", "go_terms": "L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295", "go_pmid_ids": "11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465", "nando": "http://nanbyodata.jp/ontology/NANDO_1200163", "nando_id": "NANDO:1200163", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "中間型シスチン症", "nando_label_en": "Intermediate cystinosis", "mondo_id": "MONDO:0009066", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1497", "ncbi_id": "1497", "genesymbol": "CTNS", "go_terms": "L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295", "go_pmid_ids": "11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465", "nando": "http://nanbyodata.jp/ontology/NANDO_1200164", "nando_id": "NANDO:1200164", "nando_category": "指定難病", "nando_category_en": "Designated intractable 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transcription corepressor activity", "go_ids": "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", "go_pmid_ids": "10973986,16713569,17577209,19131340,20696395,24981860,27705803,28514442,33961781,9647693 | 11984006 | | 10973986", "nando": "http://nanbyodata.jp/ontology/NANDO_1200043", "nando_id": "NANDO:1200043", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "歯状核赤核淡蒼球ルイ体萎縮症", "nando_label_en": "Dentatorubropallidoluysian atrophy", "mondo_id": "MONDO:0007435", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1962", "ncbi_id": "1962", "genesymbol": "EHHADH", "go_terms": "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 | 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"nando": "http://nanbyodata.jp/ontology/NANDO_2200098", "nando_id": "NANDO:2200098", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "脊索腫", "nando_label_en": "Chordoma", "mondo_id": "MONDO:0008978", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2131", "ncbi_id": "2131", "genesymbol": "EXT1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275", "nando": "http://nanbyodata.jp/ontology/NANDO_2200049", "nando_id": "NANDO:2200049", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "骨軟骨腫症", "nando_label_en": "Osteochondromatosis", "mondo_id": "MONDO:0005508", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2131", "ncbi_id": "2131", "genesymbol": "EXT1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12907669 | | 33961781,35137078,36402845,36593275 | | 12907669 | | 12907669 | 12907669,36593275 | 12907669,36593275", "nando": "http://nanbyodata.jp/ontology/NANDO_2200050", "nando_id": "NANDO:2200050", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "軟骨肉腫", "nando_label_en": "Chondrosarcoma", "mondo_id": "MONDO:0008977", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2132", "ncbi_id": "2132", "genesymbol": "EXT2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18337501,33961781,35137078,36402845,36593275 | 12907669,36593275 | 12907669 | 36593275 | 12907669 | 12907669 | | 12907669 | 12907669 | 12907669", "nando": "http://nanbyodata.jp/ontology/NANDO_2200049", "nando_id": "NANDO:2200049", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "骨軟骨腫症", "nando_label_en": "Osteochondromatosis", "mondo_id": "MONDO:0005508", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2322", "ncbi_id": "2322", "genesymbol": "FLT3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200004", "nando_id": "NANDO:2200004", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性骨髄性白血病、最未分化", "nando_label_en": "Acute myeloid leukemia with minimal differentiation", "mondo_id": "MONDO:0005223", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2322", "ncbi_id": "2322", "genesymbol": "FLT3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 16982329,20098747,23246379,24525236,27458164,28086240 | | | | | | | | 12951584 | | | | | | | | | | | | 19549778 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200005", "nando_id": "NANDO:2200005", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "成熟を伴わない急性骨髄性白血病", "nando_label_en": "Acute myeloid leukemia without maturation", "mondo_id": "MONDO:0005224", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2542", "ncbi_id": "2542", "genesymbol": "SLC37A4", "go_terms": "glucose-6-phosphate transmembrane transporter activity | protein binding | glucose 6-phosphate:inorganic phosphate antiporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015152 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061513", "go_pmid_ids": "11140953,12560945 | 32296183 | 18337460,21949678", "nando": "http://nanbyodata.jp/ontology/NANDO_1200841", "nando_id": "NANDO:1200841", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肝型糖原病Ib型", "nando_label_en": "Hepatic glycogen storage disease type Ib", "mondo_id": "MONDO:0009288", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2588", "ncbi_id": "2588", "genesymbol": "GALNS", "go_terms": "arylsulfatase activity | N-acetylgalactosamine-6-sulfatase activity | metal ion binding | N-acetylgalactosamine-4-sulfatase activity | sulfuric ester hydrolase activity", "go_ids": "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", "go_pmid_ids": " | | | 8325655 | 15962010", "nando": "http://nanbyodata.jp/ontology/NANDO_1200106", "nando_id": "NANDO:1200106", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "モルキオ症候群A型", "nando_label_en": "Morquio syndrome type A", "mondo_id": "MONDO:0009659", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23193", "ncbi_id": "23193", "genesymbol": "GANAB", "go_terms": "protein binding | RNA binding | Glc2Man9GlcNAc2 oligosaccharide glucosidase activity | alpha-glucosidase activity | carbohydrate binding | glucan 1,3-alpha-glucosidase activity", "go_ids": "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", "go_pmid_ids": "10929008 | 22658674 | | 28375157 | | 10929008", "nando": "http://nanbyodata.jp/ontology/NANDO_2200153", "nando_id": "NANDO:2200153", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "常染色体優性多発性嚢胞腎", "nando_label_en": "Autosomal dominant polycystic kidney disease", "mondo_id": "MONDO:0004691", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2629", "ncbi_id": "2629", "genesymbol": "GBA1", "go_terms": "steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding", "go_ids": "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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_1200057", "nando_id": "NANDO:1200057", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴーシェ病1型", "nando_label_en": "Gaucher disease type 1", "mondo_id": "MONDO:0009265", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2629", "ncbi_id": "2629", "genesymbol": "GBA1", "go_terms": "steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding", "go_ids": "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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_1200058", "nando_id": "NANDO:1200058", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴーシェ病2型", "nando_label_en": "Gaucher disease type 2", "mondo_id": "MONDO:0009266", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2629", "ncbi_id": "2629", "genesymbol": "GBA1", "go_terms": "steryl-beta-glucosidase activity | glycosyltransferase activity | galactosylceramidase activity | glucosyltransferase activity | signaling receptor binding | glucosylceramidase activity | protein binding | scavenger receptor binding", "go_ids": "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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_1200059", "nando_id": "NANDO:1200059", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴーシェ病3型", "nando_label_en": "Gaucher disease type 3", "mondo_id": "MONDO:0009267", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2720", "ncbi_id": "2720", "genesymbol": "GLB1", "go_terms": "protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166", "nando": "http://nanbyodata.jp/ontology/NANDO_1200067", "nando_id": "NANDO:1200067", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": 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"http://glycosmos.org/glycogene/2720", "ncbi_id": "2720", "genesymbol": "GLB1", "go_terms": "protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166", "nando": "http://nanbyodata.jp/ontology/NANDO_1200069", "nando_id": "NANDO:1200069", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "成人型GM1-ガングリオシドーシス", "nando_label_en": "Adult GM1 gangliosidosis", "mondo_id": "MONDO:0009262", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2720", "ncbi_id": "2720", "genesymbol": "GLB1", "go_terms": "protein binding | beta-galactosidase activity | galactoside binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "15498789,22128166,32296183 | 11927518,24737316,25936995,3143362,8112731 | | 22128166", "nando": "http://nanbyodata.jp/ontology/NANDO_1200107", "nando_id": "NANDO:1200107", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "モルキオ症候群B型", "nando_label_en": "Morquio syndrome type B", "mondo_id": "MONDO:0009660", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2760", "ncbi_id": "2760", "genesymbol": "GM2A", "go_terms": "beta-N-acetylgalactosaminidase activity | lipid transporter activity | sphingolipid activator protein activity | phospholipase activator activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | | | 28514442,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200073", "nando_id": "NANDO:1200073", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "AB型GM2ガングリオシドーシス", "nando_label_en": "GM2 gangliosidosis AB variant", "mondo_id": "MONDO:0010099", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2799", "ncbi_id": "2799", "genesymbol": "GNS", "go_terms": "glycosaminoglycan binding | N-acetylglucosamine-6-sulfatase activity | sulfuric ester hydrolase activity | sulfate binding | metal ion binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 15595925 | 15962010 | | | 17474147", "nando": "http://nanbyodata.jp/ontology/NANDO_1200104", "nando_id": "NANDO:1200104", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サンフィリッポ症候群D型", "nando_label_en": "Sanfilippo disease type D", "mondo_id": "MONDO:0009658", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2934", "ncbi_id": "2934", "genesymbol": "GSN", "go_terms": "actin binding | actin filament binding | calcium ion binding | myosin II binding | phosphatidylinositol-4,5-bisphosphate binding | phosphatidylinositol 3-kinase catalytic subunit binding | protein binding", "go_ids": "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", "go_pmid_ids": "18266911,24236012 | | 14596804 | 23325791 | | 30568254 | 10793131,16531231,17470807,17620599,18689676,19015515,19574450,19666512,23325791,29961565,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1201063", "nando_id": "NANDO:1201063", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性アミロイドニューロパチーIV型", "nando_label_en": "Familial amyloid polyneuropathy type 4", "mondo_id": "MONDO:0007097", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4233", "ncbi_id": "4233", "genesymbol": "MET", "go_terms": "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 | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200047", "nando_id": "NANDO:2200047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肝細胞癌", "nando_label_en": "Hepatocellular carcinoma", "mondo_id": "MONDO:0007256", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4287", "ncbi_id": "4287", "genesymbol": "ATXN3", "go_terms": "K48-linked deubiquitinase activity | cysteine-type deubiquitinase activity | identical protein binding | K63-linked deubiquitinase activity | ATPase binding | protein binding | ubiquitin protein ligase binding", "go_ids": "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", "go_pmid_ids": "22970133 | 33157014 | 16525503,22129356 | 22970133 | 17000876,22970133 | 16525503,16713569,17000876,19153604,20414249,21386698,21625540,22970133,24063750,28445460,30455355,31379806,32814053 | 24063750,24068323", "nando": "http://nanbyodata.jp/ontology/NANDO_1200041", "nando_id": "NANDO:1200041", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脊髄小脳失調症3型", "nando_label_en": "Spinocerebellar ataxia type 3", "mondo_id": "MONDO:0007182", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4613", "ncbi_id": "4613", "genesymbol": "MYCN", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "28473536 | 3796607 | | 10597290,11593398,17289033,18003922,19111882,21698133,23792191,25175806,26766587,27728805,27837025 | 27837025 | | 17327229 | 17327229 | 10597290", "nando": 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http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042393", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200005", "nando_id": "NANDO:2200005", "nando_category": "小児慢性特定疾病", "nando_category_en": 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activity | vascular endothelial growth factor receptor activity | platelet-derived growth factor beta-receptor activity | fibroblast growth factor receptor activity | insulin receptor activity", "go_ids": "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", "go_pmid_ids": " | | | | 23027130 | | | | | | 12237455,20565848,21102451,32707033,35384245,36931259 | 23027130 | | | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200060", "nando_id": "NANDO:2200060", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線維肉腫", "nando_label_en": "Fibrosarcoma", "mondo_id": "MONDO:0005164", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7153", "ncbi_id": "7153", "genesymbol": "TOP2A", "go_terms": "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 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| ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200073", "nando_id": "NANDO:2200073", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "副腎皮質癌", "nando_label_en": "Adrenocortical carcinoma", "mondo_id": "MONDO:0006639", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7157", "ncbi_id": "7157", "genesymbol": "TP53", "go_terms": "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 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"nando": "http://nanbyodata.jp/ontology/NANDO_1200042", "nando_id": "NANDO:1200042", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脊髄小脳失調症6型", "nando_label_en": "Spinocerebellar ataxia type 6", "mondo_id": "MONDO:0008457", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/950", "ncbi_id": "950", "genesymbol": "SCARB2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 29199275 | 29199275 | | 18022370,25202012 | 24162852,28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200057", "nando_id": "NANDO:1200057", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゴーシェ病1型", "nando_label_en": "Gaucher disease type 1", "mondo_id": "MONDO:0009265", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3074", "ncbi_id": "3074", "genesymbol": "HEXB", "go_terms": "beta-N-acetylglucosaminidase activity | identical protein binding | protein binding | N-acetyl-beta-D-galactosaminidase activity | acetylglucosaminyltransferase activity | beta-N-acetylhexosaminidase activity", "go_ids": "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", "go_pmid_ids": " | 6230359 | 16698036,28514442,32296183,32814053,33961781 | | 25645918 | 8123671,8672428", "nando": "http://nanbyodata.jp/ontology/NANDO_1200072", "nando_id": "NANDO:1200072", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サンドホフ病", "nando_label_en": "Sandhoff disease", "mondo_id": "MONDO:0010006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3119", "ncbi_id": "3119", "genesymbol": "HLA-DQB1", "go_terms": "peptide antigen binding | MHC class II protein complex binding | protein binding | MHC class II receptor activity", "go_ids": 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"nando_category_en": "Designated intractable disease", "nando_label": "マロトー・ラミー症候群（重症型）", "nando_label_en": "Maroteaux Lamy syndrome, rapidly progressing form", "mondo_id": "MONDO:0009661", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/411", "ncbi_id": "411", "genesymbol": "ARSB", "go_terms": "N-acetylgalactosamine-4-sulfatase activity | metal ion binding | arylsulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003943 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065", "go_pmid_ids": "19306108 | | 2303452", "nando": "http://nanbyodata.jp/ontology/NANDO_1200110", "nando_id": "NANDO:1200110", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "マロトー・ラミー症候群（軽症型）", "nando_label_en": "Maroteaux Lamy syndrome, slowly progressing form", "mondo_id": "MONDO:0009661", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5157", "ncbi_id": "5157", "genesymbol": "PDGFRL", "go_terms": "platelet-derived growth factor beta-receptor activity | platelet activating factor receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005019 | http://purl.obolibrary.org/obo/GO_0004992", "go_pmid_ids": "7898930 | 7898930", "nando": "http://nanbyodata.jp/ontology/NANDO_2200047", "nando_id": "NANDO:2200047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肝細胞癌", "nando_label_en": "Hepatocellular carcinoma", "mondo_id": "MONDO:0007256", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5257", "ncbi_id": "5257", "genesymbol": "PHKB", "go_terms": "calmodulin binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 21418524,25051373,25416956,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200848", "nando_id": "NANDO:1200848", 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19200708,2174051 | | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200047", "nando_id": "NANDO:2200047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肝細胞癌", "nando_label_en": "Hepatocellular carcinoma", "mondo_id": "MONDO:0007256", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5310", "ncbi_id": "5310", "genesymbol": "PKD1", "go_terms": "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", "go_ids": "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 | 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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", "go_ids": "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 | 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"closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5621", "ncbi_id": "5621", "genesymbol": "PRNP", "go_terms": "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", "go_ids": "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 | 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21593310,22820466,24012003,26871627 | 16004966 | | 24012003 | | 30401430 | 16286452,18025469,18436646,19204296,19278656,19927125,20564047,21920025,32284600,32514176,34516876 | | | 11900542,16294306,19242475,24970228 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200189", "nando_id": "NANDO:1200189", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "家族性クロイツフェルト・ヤコブ病", "nando_label_en": "Familial Creutzfeldt-Jakob disease", "mondo_id": "MONDO:0007403", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5621", "ncbi_id": "5621", "genesymbol": "PRNP", "go_terms": "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 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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", "go_pmid_ids": " | 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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200190", "nando_id": "NANDO:1200190", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ゲルストマン・ストロイスラー・シャインカー病", "nando_label_en": "Gerstmann-Straussler-Scheinker syndrome", "mondo_id": "MONDO:0007656", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_1200080", "nando_id": "NANDO:1200080", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "若年型異染性白質ジストロフィー", "nando_label_en": "Juvenile ｍetachromatic leukodystrophy", "mondo_id": "MONDO:0009591", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_1200082", "nando_id": "NANDO:1200082", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サポシンB欠損症", "nando_label_en": "Saposin B deficiency", "mondo_id": "MONDO:0009590", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5745", "ncbi_id": "5745", "genesymbol": "PTH1R", "go_terms": "protein homodimerization activity | G protein-coupled peptide receptor activity | protein binding | peptide hormone binding | parathyroid hormone receptor activity", "go_ids": "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", "go_pmid_ids": "27160269 | | 19674967,23124878,32296183 | 19674967 | 19674967,8397094", "nando": "http://nanbyodata.jp/ontology/NANDO_2200049", "nando_id": "NANDO:2200049", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "骨軟骨腫症", "nando_label_en": "Osteochondromatosis", "mondo_id": "MONDO:0008145", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5925", "ncbi_id": "5925", "genesymbol": "RB1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200042", "nando_id": "NANDO:2200042", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "網膜芽細胞腫", "nando_label_en": "Retinoblastoma", "mondo_id": "MONDO:0008380", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6310", "ncbi_id": "6310", "genesymbol": "ATXN1", "go_terms": "identical protein binding | poly(G) binding | poly(U) RNA binding | chromatin binding | protein binding | RNA binding | DNA binding", "go_ids": "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", "go_pmid_ids": "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 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200045", "nando_id": "NANDO:1200045", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脊髄小脳失調症1型", "nando_label_en": "Spinocerebellar ataxia type 1", "mondo_id": "MONDO:0008119", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6311", "ncbi_id": "6311", "genesymbol": "ATXN2", "go_terms": "mRNA binding | epidermal growth factor receptor binding | protein binding | RNA binding", "go_ids": "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", "go_pmid_ids": " | 18602463 | 10814712,15663938,16115810,16713569,17097639,17392519,18602463,20181956,20740007,23209657,24981860,26184334,32814053,33961781,35271311,39251607 | 10814712,22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_1200046", "nando_id": "NANDO:1200046", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脊髄小脳失調症2型", "nando_label_en": "Spinocerebellar ataxia type 2", "mondo_id": "MONDO:0008458", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6448", "ncbi_id": "6448", "genesymbol": "SGSH", "go_terms": "sulfuric ester hydrolase activity | metal ion binding | N-sulfoglucosamine sulfohydrolase activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | 15146460,7493035 | 15962010,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_1200101", "nando_id": "NANDO:1200101", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "サンフィリッポ症候群A型", "nando_label_en": "Sanfilippo disease type A", "mondo_id": "MONDO:0009655", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6609", "ncbi_id": "6609", "genesymbol": "SMPD1", "go_terms": "zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding", "go_ids": "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", "go_pmid_ids": "8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428", "nando": "http://nanbyodata.jp/ontology/NANDO_1200061", "nando_id": "NANDO:1200061", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ニーマン・ピック病A型", "nando_label_en": "Niemann-Pick disease type A", "mondo_id": "MONDO:0009756", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54840", "ncbi_id": "54840", "genesymbol": "APTX", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0008270 | 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"nando_category_en": "Designated intractable disease", "nando_label": "アプラタキシン欠損症", "nando_label_en": "Ataxia-oculomotor apraxia type 1", "mondo_id": "MONDO:0008842", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54880", "ncbi_id": "54880", "genesymbol": "BCOR", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10898795 | 16943429 | 19578371 | 16713569,16943429,23260655,23523425,24981860,25416956,26496610,26687479,27505670,27705803,33961781,35271311 | | 10898795,15878880 | 10898795 | 16943429", "nando": "http://nanbyodata.jp/ontology/NANDO_2200044", "nando_id": "NANDO:2200044", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腎明細胞肉腫", "nando_label_en": "Clear cell sarcoma of the kidney", "mondo_id": "MONDO:0005006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8443", "ncbi_id": "8443", "genesymbol": "GNPAT", "go_terms": "glycerol-3-phosphate O-acyltransferase activity | glycerone-phosphate O-acyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004366 | http://purl.obolibrary.org/obo/GO_0016287", "go_pmid_ids": " | 10395968,11152660,15687349,8186247,9536089", "nando": "http://nanbyodata.jp/ontology/NANDO_1200771", 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10706581,15060085,9089413,9482850 | 10706581,15060085,9482850", "nando": "http://nanbyodata.jp/ontology/NANDO_1200766", "nando_id": "NANDO:1200766", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "D-二頭酵素欠損症", "nando_label_en": "D-bifunctional protein deficiency", "mondo_id": "MONDO:0009855", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3417", "ncbi_id": "3417", "genesymbol": "IDH1", "go_terms": "protein homodimerization activity | cadherin binding | NAD binding | isocitrate dehydrogenase (NADP+) activity | identical protein binding | NADP binding | protein binding | magnesium ion binding", "go_ids": "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", "go_pmid_ids": "19935646 | 25468996 | | 10521434,19935646,20171178 | 19935646,21516116,26436839 | | 31983428,32814053 | 19935646", "nando": "http://nanbyodata.jp/ontology/NANDO_2200049", "nando_id": "NANDO:2200049", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "骨軟骨腫症", "nando_label_en": "Osteochondromatosis", "mondo_id": "MONDO:0008145", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3418", "ncbi_id": "3418", "genesymbol": "IDH2", "go_terms": "NAD binding | magnesium ion binding | isocitrate dehydrogenase (NADP+) activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0051287 | http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004450", "go_pmid_ids": " | | 22416140,23226729", "nando": "http://nanbyodata.jp/ontology/NANDO_2200049", "nando_id": "NANDO:2200049", "nando_category": 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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", "go_pmid_ids": "18817523 | | | 7753549 | 22681933 | 10799489 | | | 10900005 | | | 10900005,11387475,11390366,16977309,17850746,18046459,37100772,37219487", "nando": "http://nanbyodata.jp/ontology/NANDO_2200047", "nando_id": "NANDO:2200047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "肝細胞癌", "nando_label_en": "Hepatocellular carcinoma", "mondo_id": "MONDO:0007256", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/120227", "ncbi_id": "120227", "genesymbol": "CYP2R1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "18511070 | | 18511070 | 18511070 | 18511070 | 15465040,18511070", "nando": "http://nanbyodata.jp/ontology/NANDO_1201093", "nando_id": "NANDO:1201093", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ビタミンD依存症 1B型", "nando_label_en": "Vitamin D-dependent rickets, type 1B", "mondo_id": "MONDO:0010810", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10320", "ncbi_id": "10320", "genesymbol": "IKZF1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "21548011,22106042 | | | 15491138,21516116,24292623,24722188,25416956,25910212,26871637,27107012,28514442,29892012,31515488,32296183,33961781,39251607 | | 15491138 | | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200001", "nando_id": "NANDO:2200001", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "前駆B細胞急性リンパ性白血病", "nando_label_en": "B-cell precursor lymphoblastic leukemia", "mondo_id": 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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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200043", "nando_id": "NANDO:2200043", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィルムス腫瘍／腎芽腫", "nando_label_en": "Wilms tumour", "mondo_id": "MONDO:0019004", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/22999", "ncbi_id": "22999", "genesymbol": "RIMS1", "go_terms": "metal ion binding | protein binding | small GTPase binding | zinc ion binding | structural constituent of presynaptic active zone | RNA binding | GTPase regulator activity", "go_ids": "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", "go_pmid_ids": " | 11438518,17474147,37207277 | | | | 22658674 | 11438518", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": 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"http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1497", "ncbi_id": "1497", "genesymbol": "CTNS", "go_terms": "L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295", "go_pmid_ids": "11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465", "nando": "http://nanbyodata.jp/ontology/NANDO_1200162", "nando_id": "NANDO:1200162", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "腎型シスチン症", "nando_label_en": "Nephropathic cystinosis", "mondo_id": 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1-monooxygenase activity | iron ion binding", "go_ids": "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", "go_pmid_ids": "15795327,16549446,17023519,22862690,9415400 | | 10518789 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201092", "nando_id": "NANDO:1201092", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ビタミンD依存症 1A型", "nando_label_en": "Vitamin D-dependent rickets, type 1A", "mondo_id": "MONDO:0020723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1736", "ncbi_id": "1736", "genesymbol": "DKC1", "go_terms": "box H/ACA snoRNA binding | telomerase RNA binding | protein binding | pseudouridine synthase activity | telomerase activity | RNA binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200304", "nando_id": "NANDO:1200304", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性角化不全症", "nando_label_en": "Dyskeratosis congenita", "mondo_id": "MONDO:0015780", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1756", "ncbi_id": "1756", "genesymbol": "DMD", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200488", "nando_id": "NANDO:1200488", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "デュシェンヌ型筋ジストロフィー", "nando_label_en": "Duchenne muscular dystrophy", "mondo_id": "MONDO:0010679", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1756", "ncbi_id": "1756", "genesymbol": "DMD", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200489", "nando_id": "NANDO:1200489", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ベッカー型筋ジストロフィー", "nando_label_en": "Becker muscular dystrophy", "mondo_id": "MONDO:0010311", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10682", "ncbi_id": "10682", "genesymbol": "EBP", "go_terms": "cholestenol delta-isomerase activity | C-8 sterol isomerase activity | steroid delta-isomerase activity | identical protein binding | protein binding | cholesterol-5,6-oxide hydrolase activity", "go_ids": "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", "go_pmid_ids": " | | 10391218,10391219,9894009 | 32296183 | 25910212,32296183 | 20615952", "nando": "http://nanbyodata.jp/ontology/NANDO_1200630", "nando_id": "NANDO:1200630", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Conradi-Hünermann-Happle 症候群", "nando_label_en": "Conradi Hünermann Happle syndrome", "mondo_id": "MONDO:0020603", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/24", "ncbi_id": "24", "genesymbol": "ABCA4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | | 23144455 | 24097981 | | 24097981 | 20404325,29847635,33375396 | | 29847635,33375396 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3815", "ncbi_id": "3815", "genesymbol": "KIT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 21640708 | | | | 10377264,10397721,11018522,12878163,1382595,17662946,24728074,25241761,7523381,7537096 | | | | | | | | 21640708 | | | | | | | | | 21640708 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200006", "nando_id": "NANDO:2200006", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "成熟を伴う急性骨髄性白血病", "nando_label_en": "Acute myeloid leukemia with maturation", "mondo_id": "MONDO:0020320", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3845", "ncbi_id": "3845", "genesymbol": "KRAS", "go_terms": "GDP binding | protein binding | G protein activity | GTPase activity | protein-membrane adaptor activity | protein-containing complex binding | GTP binding | identical protein binding", "go_ids": "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", "go_pmid_ids": " | 10673434,12732644,15451670,20080631,20802526,24415755,25416956,25852190,28619714,30194290,31980649,32814053 | | 26037647 | | 23209302 | | 26051715", "nando": "http://nanbyodata.jp/ontology/NANDO_2200014", "nando_id": "NANDO:2200014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "closeMatch" }, { "glycogene": 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"若年性骨髄単球性白血病", "nando_label_en": "Juvenile myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3848", "ncbi_id": "3848", "genesymbol": "KRT1", "go_terms": "protein binding | protein heterodimerization activity | structural constituent of skin epidermis | carbohydrate binding | signaling receptor activity", "go_ids": "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", "go_pmid_ids": "11290596,16923132,20562859,24940650,25910212,27595935,32296183,39009827 | 27595935 | 7543090 | 11549596 | 11290596", "nando": "http://nanbyodata.jp/ontology/NANDO_1200611", "nando_id": "NANDO:1200611", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性表皮融解性魚鱗癬", "nando_label_en": "Autosomal dominant epidermolytic ichthyosis", "mondo_id": "MONDO:0020702", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3858", "ncbi_id": "3858", "genesymbol": "KRT10", "go_terms": "protein heterodimerization activity | structural constituent of skin epidermis | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "27595935 | 2459124,7543090 | 19627498,24940650,27595935", "nando": "http://nanbyodata.jp/ontology/NANDO_1200611", "nando_id": "NANDO:1200611", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体優性表皮融解性魚鱗癬", "nando_label_en": "Autosomal dominant epidermolytic ichthyosis", "mondo_id": "MONDO:0020702", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3858", "ncbi_id": "3858", "genesymbol": "KRT10", "go_terms": "protein heterodimerization activity | structural constituent of skin epidermis | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "27595935 | 2459124,7543090 | 19627498,24940650,27595935", "nando": "http://nanbyodata.jp/ontology/NANDO_1200612", "nando_id": "NANDO:1200612", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "常染色体劣性表皮融解性魚鱗癬", "nando_label_en": "Autosomal recessive epidermolytic ichthyosis", "mondo_id": "MONDO:0044742", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3988", "ncbi_id": "3988", "genesymbol": "LIPA", "go_terms": "lipase activity | sterol esterase activity | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": "1718995 | 15269241,1718995,7204383,8112342,9633819 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200143", "nando_id": "NANDO:1200143", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ウォルマン病", "nando_label_en": "Wolman disease", "mondo_id": "MONDO:0019148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3988", "ncbi_id": "3988", "genesymbol": "LIPA", "go_terms": "lipase activity | sterol esterase activity | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0016298 | http://purl.obolibrary.org/obo/GO_0004771 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": "1718995 | 15269241,1718995,7204383,8112342,9633819 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200144", "nando_id": "NANDO:1200144", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "コレステロールエステル蓄積症", "nando_label_en": "Cholesterol ester storage disease", "mondo_id": "MONDO:0019149", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25", "ncbi_id": "25", "genesymbol": "ABL1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0003785 | http://purl.obolibrary.org/obo/GO_0030145 | 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http://purl.obolibrary.org/obo/GO_0070064 | http://purl.obolibrary.org/obo/GO_0001784 | http://purl.obolibrary.org/obo/GO_0070097", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200001", "nando_id": "NANDO:2200001", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "前駆B細胞急性リンパ性白血病", "nando_label_en": "B-cell precursor lymphoblastic leukemia", "mondo_id": "MONDO:0020511", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25", "ncbi_id": "25", "genesymbol": "ABL1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200013", "nando_id": "NANDO:2200013", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄性白血病", "nando_label_en": "Chronic myeloid leukemia", "mondo_id": "MONDO:0011996", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25", "ncbi_id": "25", "genesymbol": "ABL1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200022", "nando_id": "NANDO:2200022", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Bリンパ芽球性リンパ腫", "nando_label_en": "Precursor B lymphoblastic lymphoma", "mondo_id": "MONDO:0020511", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6731", "ncbi_id": "6731", "genesymbol": "SRP72", "go_terms": "RNA binding | protein binding | 7S RNA binding | signal recognition particle binding | ribosome binding | TPR domain binding", "go_ids": "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", "go_pmid_ids": "22658674,22681889 | 16672232,24965446,32296183,33961781,35271311 | 27899666 | 17254600 | 27899666 | 27899666", "nando": "http://nanbyodata.jp/ontology/NANDO_1200301", "nando_id": "NANDO:1200301", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "MDSとの境界型", "nando_label_en": "Borderline between aplastic anemia and MDS", "mondo_id": "MONDO:0013851", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6760", "ncbi_id": "6760", "genesymbol": "SS18", "go_terms": "transcription coactivator activity | protein binding | nuclear receptor coactivator activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003713 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030374", "go_pmid_ids": "15919756 | 15919756,22439931 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200061", "nando_id": "NANDO:2200061", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "滑膜肉腫", "nando_label_en": "Synovial sarcoma", "mondo_id": "MONDO:0010434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6774", "ncbi_id": "6774", "genesymbol": "STAT3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6777", "ncbi_id": "6777", "genesymbol": "STAT5B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "29844444 | | 21106534,31175292,32296183,33961781,9989503 | | 31175292 | 8631883 | | 29844444 | 12552091 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23451", "ncbi_id": "23451", "genesymbol": "SF3B1", "go_terms": "mRNA binding | protein binding | RNA binding | splicing factor binding", "go_ids": "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", "go_pmid_ids": " | 16432215,17332742,17589525,19515850,21062891,22365833,26575292,27720643,28514442,30567737,33961781,35271311,37207277,37219487 | 22658674,22681889,27720643 | 16376933,27720643", "nando": "http://nanbyodata.jp/ontology/NANDO_2200019", "nando_id": "NANDO:2200019", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "骨髄異形成症候群", "nando_label_en": "Myelodysplastic syndrome", "mondo_id": "MONDO:0018881", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6820", "ncbi_id": "6820", "genesymbol": "SULT2B1", "go_terms": "small molecule binding | sulfotransferase activity | steroid hormone binding | cholesterol sulfotransferase activity | protein binding | steroid sulfotransferase activity | cholesterol binding | nucleic acid binding", "go_ids": "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", "go_pmid_ids": "12923182 | | 12923182 | | 16189514,19060904,25416956,25910212,31515488,32296183,33961781 | 12145317,12923182,9799594 | 12923182 | 12923182", "nando": "http://nanbyodata.jp/ontology/NANDO_1200617", "nando_id": "NANDO:1200617", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "葉状魚鱗癬", "nando_label_en": "Lamellar ichthyosis", "mondo_id": "MONDO:0017778", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6897", "ncbi_id": "6897", "genesymbol": "TARS1", "go_terms": "threonine-tRNA ligase activity | tRNA binding | ATP binding | protein binding | identical protein binding | zinc ion binding", "go_ids": "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", "go_pmid_ids": "25824639 | | 25824639 | 25416956,32296183,32814053 | 25824639 | 25824639", "nando": "http://nanbyodata.jp/ontology/NANDO_1200627", "nando_id": "NANDO:1200627", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "硫黄欠乏性毛髪発育異常症", "nando_label_en": "Trichothiodystrophy", "mondo_id": "MONDO:0018053", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6929", "ncbi_id": "6929", "genesymbol": "TCF3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200001", "nando_id": "NANDO:2200001", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "前駆B細胞急性リンパ性白血病", "nando_label_en": "B-cell precursor lymphoblastic leukemia", "mondo_id": "MONDO:0020511", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6929", "ncbi_id": "6929", "genesymbol": "TCF3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200022", "nando_id": "NANDO:2200022", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Bリンパ芽球性リンパ腫", "nando_label_en": "Precursor B lymphoblastic lymphoma", "mondo_id": "MONDO:0020511", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/60528", "ncbi_id": "60528", "genesymbol": "ELAC2", "go_terms": "RNA binding | RNA endonuclease activity | tRNA-specific ribonuclease activity | metal ion binding | 3'-tRNA processing endoribonuclease activity", "go_ids": "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", "go_pmid_ids": "22658674,22681889 | | 12711671,15317868,16361254,18809514,21559454,21593607 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200180", "nando_id": "NANDO:1200180", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "複合体I欠損症", "nando_label_en": "Mitochondrial complex I deficiency", "mondo_id": "MONDO:0100224", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23092", "ncbi_id": "23092", "genesymbol": "ARHGAP26", "go_terms": "GTPase activator activity | phospholipid binding | protein-macromolecule adaptor activity | protein binding", "go_ids": "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", "go_pmid_ids": "10908648 | 18954304 | 38081847 | 11432776,25416956,26871637,32344433,32707033", "nando": "http://nanbyodata.jp/ontology/NANDO_2200014", "nando_id": "NANDO:2200014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23092", "ncbi_id": "23092", "genesymbol": "ARHGAP26", "go_terms": "GTPase activator activity | phospholipid binding | protein-macromolecule adaptor activity | protein binding", "go_ids": "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", "go_pmid_ids": "10908648 | 18954304 | 38081847 | 11432776,25416956,26871637,32344433,32707033", "nando": "http://nanbyodata.jp/ontology/NANDO_2200015", "nando_id": "NANDO:2200015", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性骨髄単球性白血病", "nando_label_en": "Juvenile myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23093", "ncbi_id": "23093", "genesymbol": "TTLL5", "go_terms": "ATP binding | protein-glutamic acid ligase activity, elongating | metal ion binding | tubulin-glutamic acid ligase activity | protein-glutamic acid ligase activity, initiating | tubulin binding", "go_ids": "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", "go_pmid_ids": " | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/359948", "ncbi_id": "359948", "genesymbol": "IRF2BP2", "go_terms": "transcription corepressor activity | zinc ion binding | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0003714 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": "12799427 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64859", "ncbi_id": "64859", "genesymbol": "NABP1", "go_terms": "single-stranded DNA binding | RNA binding | DNA binding | protein binding", "go_ids": "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", "go_pmid_ids": " | | | 19683501,25416956,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/348938", "ncbi_id": "348938", "genesymbol": "NIPAL4", "go_terms": "magnesium ion transmembrane transporter activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0015095 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1200616", "nando_id": "NANDO:1200616", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "先天性魚鱗癬様紅皮症", "nando_label_en": "Congenital ichthyosiform erythroderma", "mondo_id": "MONDO:0019306", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/348938", "ncbi_id": "348938", "genesymbol": "NIPAL4", "go_terms": "magnesium ion transmembrane transporter activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0015095 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32296183", 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binding | DNA binding | histone H3 methyltransferase activity | DNA-binding transcription activator activity, RNA polymerase II-specific | metal ion binding", "go_ids": "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", "go_pmid_ids": " | | | | 19767769 | 15897867 | | 10856240,11328817,11568182,15897867,17635584,21555002,22308434,25814554,30462309,32296183,32814053 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200019", "nando_id": "NANDO:2200019", "nando_category": "小児慢性特定疾病", "nando_category_en": 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"16189514,16713569,18320585,18347058,18509338,21988832,23455924,23975937,25416956,25910212,29892012,31515488,32814053 | | 21988832,23975937 | 22658674,22681889 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200059", "nando_id": "NANDO:2200059", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "線維形成性小円形細胞腫瘍", "nando_label_en": "Desmoplastic small round cell tumors", "mondo_id": "MONDO:0019373", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2313", "ncbi_id": "2313", "genesymbol": "FLI1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 1522903 | 10891501 | 28473536 | | 31146003 | 20211142,25416956 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200053", "nando_id": "NANDO:2200053", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ユーイング肉腫", "nando_label_en": "Ewing's sarcoma", "mondo_id": "MONDO:0012817", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2313", "ncbi_id": "2313", "genesymbol": "FLI1", "go_terms": "DNA-binding transcription factor activity, RNA polymerase II-specific | 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http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0003682", "go_pmid_ids": " | 1522903 | 10891501 | 28473536 | | 31146003 | 20211142,25416956 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200055", "nando_id": "NANDO:2200055", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "末梢性未分化神経外胚葉性腫瘍", "nando_label_en": "Peripheral primitive neuroectodermal tumors", "mondo_id": "MONDO:0018271", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2322", "ncbi_id": "2322", "genesymbol": "FLT3", "go_terms": "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 | 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19674970 | 19232384 | | 15016828 | 19232384,19674970,19805038,20189993,20368097 | | 19723756,19735555,19805038,20189993,20484083 | 2017177 | 19674970 | | 20484083", "nando": "http://nanbyodata.jp/ontology/NANDO_2200001", "nando_id": "NANDO:2200001", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "前駆B細胞急性リンパ性白血病", "nando_label_en": "B-cell precursor lymphoblastic leukemia", "mondo_id": "MONDO:0020511", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2625", "ncbi_id": "2625", "genesymbol": "GATA3", "go_terms": "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 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"go_terms": "G protein-coupled photoreceptor activity | photoreceptor activity | identical protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008020 | http://purl.obolibrary.org/obo/GO_0009881 | http://purl.obolibrary.org/obo/GO_0042802", "go_pmid_ids": " | 8185948 | 28402104", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2782", "ncbi_id": "2782", "genesymbol": "GNB1", "go_terms": "GTPase binding | GTPase activity | protein binding | signaling receptor complex adaptor activity | protein-containing complex binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0051020 | http://purl.obolibrary.org/obo/GO_0003924 | http://purl.obolibrary.org/obo/GO_0005515 | 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transcription factor complex binding | RNA binding | RNA polymerase II general transcription initiation factor activity | protein binding", "go_ids": "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", "go_pmid_ids": " | | 22658674 | 27193682 | 16547462,21988832,28514442,32296183,33961781,7926747,8999876,9271120", "nando": "http://nanbyodata.jp/ontology/NANDO_1200627", "nando_id": "NANDO:1200627", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "硫黄欠乏性毛髪発育異常症", "nando_label_en": "Trichothiodystrophy", "mondo_id": "MONDO:0018053", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4125", "ncbi_id": "4125", "genesymbol": "MAN2B1", "go_terms": "carbohydrate binding | alpha-mannosidase activity | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": " | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200127", "nando_id": "NANDO:1200127", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "乳児型α - マンノシドーシス", "nando_label_en": "Alpha-mannosidosis, infantile form", "mondo_id": "MONDO:0017732", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4125", "ncbi_id": "4125", "genesymbol": "MAN2B1", "go_terms": "carbohydrate binding | alpha-mannosidase activity | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0004559 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": " | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200128", "nando_id": "NANDO:1200128", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", 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"genesymbol": "KMT2A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200018", "nando_id": "NANDO:2200018", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "混合型急性白血病", "nando_label_en": "Mixed phenotype acute leukemia", "mondo_id": "MONDO:0020743", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4297", "ncbi_id": "4297", "genesymbol": "KMT2A", "go_terms": "histone H3K4 trimethyltransferase activity | lysine-acetylated histone binding | protein-cysteine 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"1568247,1570015,2121371 | 17187824 | 11356864,16374483,23027611,26635368,30194290,34626534 | 17187824", "nando": "http://nanbyodata.jp/ontology/NANDO_2200015", "nando_id": "NANDO:2200015", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性骨髄単球性白血病", "nando_label_en": "Juvenile myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4864", "ncbi_id": "4864", "genesymbol": "NPC1", "go_terms": "protein binding | cholesterol transfer activity | transmembrane signaling receptor activity | virus receptor activity | lipid transporter activity | cholesterol binding | signaling receptor activity", "go_ids": "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 | 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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", "go_ids": "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 | 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"http://nanbyodata.jp/ontology/NANDO_2200014", "nando_id": "NANDO:2200014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4893", "ncbi_id": "4893", "genesymbol": "NRAS", "go_terms": "GTPase activity | GDP binding | protein-containing complex binding | G protein activity | protein binding | GTP binding", "go_ids": "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", "go_pmid_ids": "30712867 | | 23209302 | | 18641128,20080631,21478863,28514442,30194290,31980649,32296183,32707033,32814053,33961781,34591642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200015", "nando_id": "NANDO:2200015", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性骨髄単球性白血病", "nando_label_en": "Juvenile myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/4926", "ncbi_id": "4926", "genesymbol": "NUMA1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": 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"http://nanbyodata.jp/ontology/NANDO_2200063", "nando_id": "NANDO:2200063", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "胞巣状軟部肉腫", "nando_label_en": "Alveolar soft part sarcoma", "mondo_id": "MONDO:0011655", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/7157", "ncbi_id": "7157", "genesymbol": "TP53", "go_terms": "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 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"ALOX12B", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | | | | 21558561 | 15629692 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200617", "nando_id": "NANDO:1200617", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "葉状魚鱗癬", "nando_label_en": "Lamellar ichthyosis", "mondo_id": "MONDO:0019306", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/335", "ncbi_id": "335", "genesymbol": "APOA1", "go_terms": "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", "go_ids": "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 | 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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", "go_ids": "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 | 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leukemia", "mondo_id": "MONDO:0020511", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/861", "ncbi_id": "861", "genesymbol": "RUNX1", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0000977 | http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0005524 | 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"nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0020311", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5195", "ncbi_id": "5195", "genesymbol": "PEX14", "go_terms": "protein transmembrane transporter activity | protein binding | signaling receptor binding | transcription corepressor activity | identical protein binding | protein-macromolecule adaptor activity | beta-tubulin binding | microtubule binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200760", "nando_id": "NANDO:1200760", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ツェルベーガー症候群", "nando_label_en": "Zellweger syndrome", "mondo_id": "MONDO:0019609", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5256", "ncbi_id": "5256", "genesymbol": "PHKA2", "go_terms": "phosphorylase kinase activity | protein binding | calmodulin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516", "go_pmid_ids": "7549948 | 23455922,26496610,28514442,32296183,32707033,32814053,33961781,35271311 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200847", "nando_id": "NANDO:1200847", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肝型糖原病IXa型", "nando_label_en": "Hepatic glycogen storage disease type IXa", "mondo_id": "MONDO:0010598", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5261", "ncbi_id": "5261", "genesymbol": "PHKG2", "go_terms": "ATP binding | tau-protein kinase activity | phosphorylase kinase activity | enzyme binding | protein binding | calmodulin binding | protein serine/threonine kinase activity", "go_ids": "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", "go_pmid_ids": " | | 10487978 | | 23455922,26496610,28514442,32296183,32707033,33961781,35271311 | | 10487978", "nando": "http://nanbyodata.jp/ontology/NANDO_1200849", "nando_id": "NANDO:1200849", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肝型糖原病IXc型", "nando_label_en": "Hepatic glycogen storage disease type IXc", "mondo_id": "MONDO:0013091", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5305", "ncbi_id": "5305", "genesymbol": "PIP4K2A", "go_terms": "ATP binding | protein binding | 1-phosphatidylinositol-4-phosphate 5-kinase activity | protein homodimerization activity | 1-phosphatidylinositol-5-phosphate 4-kinase activity", "go_ids": "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", "go_pmid_ids": " | 32296183 | 26774281,7639683 | 32130941 | 30718367", "nando": "http://nanbyodata.jp/ontology/NANDO_2200001", "nando_id": "NANDO:2200001", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "前駆B細胞急性リンパ性白血病", "nando_label_en": "B-cell precursor lymphoblastic leukemia", "mondo_id": "MONDO:0020511", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5305", "ncbi_id": "5305", "genesymbol": "PIP4K2A", "go_terms": "ATP binding | protein binding | 1-phosphatidylinositol-4-phosphate 5-kinase activity | protein homodimerization activity | 1-phosphatidylinositol-5-phosphate 4-kinase activity", "go_ids": "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", "go_pmid_ids": " | 32296183 | 26774281,7639683 | 32130941 | 30718367", "nando": "http://nanbyodata.jp/ontology/NANDO_2200022", "nando_id": "NANDO:2200022", 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200007", "nando_id": "NANDO:2200007", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "急性前骨髄球性白血病", "nando_label_en": "Acute promyelocytic leukemia", "mondo_id": "MONDO:0012883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5621", "ncbi_id": "5621", "genesymbol": "PRNP", "go_terms": "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 | 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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", "go_pmid_ids": " | 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 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200191", "nando_id": "NANDO:1200191", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "致死性家族性不眠症", "nando_label_en": 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http://purl.obolibrary.org/obo/GO_1905573 | http://purl.obolibrary.org/obo/GO_0002020", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_1200075", "nando_id": "NANDO:1200075", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "乳児型クラッベ病", "nando_label_en": "Infantile Krabbe disease", "mondo_id": "MONDO:0016089", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_1200079", "nando_id": "NANDO:1200079", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "後期乳児型異染性白質ジストロフィー", "nando_label_en": "Late infantile metachromatic leukodystrophy", "mondo_id": "MONDO:0017729", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_1200081", "nando_id": "NANDO:1200081", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "成人型異染性白質ジストロフィー", "nando_label_en": "Adult metachromatic leukodystrophy", "mondo_id": "MONDO:0017730", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5781", "ncbi_id": "5781", "genesymbol": "PTPN11", "go_terms": "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 | 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"http://nanbyodata.jp/ontology/NANDO_2200014", "nando_id": "NANDO:2200014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5781", "ncbi_id": "5781", "genesymbol": "PTPN11", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200015", "nando_id": "NANDO:2200015", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性骨髄単球性白血病", "nando_label_en": "Juvenile myelomonocytic leukemia", "mondo_id": "MONDO:0011908", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5824", "ncbi_id": "5824", "genesymbol": "PEX19", "go_terms": "protein carrier chaperone | peroxisome membrane class-1 targeting sequence binding | protein binding | peroxisome membrane targeting sequence binding | ATPase binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_1200760", "nando_id": "NANDO:1200760", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ツェルベーガー症候群", "nando_label_en": "Zellweger syndrome", "mondo_id": "MONDO:0019609", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5956", "ncbi_id": "5956", "genesymbol": "OPN1LW", "go_terms": "protein binding | photoreceptor activity | G protein-coupled photoreceptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0009881 | http://purl.obolibrary.org/obo/GO_0008020", "go_pmid_ids": "32296183 | 8185948 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5961", "ncbi_id": "5961", "genesymbol": "PRPH2", "go_terms": "protein homodimerization activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5978", "ncbi_id": "5978", "genesymbol": "REST", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "10449787,10734093,12192000,16417580,16442230,17468742,17984088,18354482,18354483,19061646,21258371,21284946,31361762 | | | 17130167 | 10449787,10734093,21284946,33108349 | | 17984088,33108349,8568247 | | 19342457 | | 17555596", "nando": "http://nanbyodata.jp/ontology/NANDO_2200043", "nando_id": "NANDO:2200043", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ウィルムス腫瘍／腎芽腫", "nando_label_en": "Wilms tumour", "mondo_id": "MONDO:0019004", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6342", "ncbi_id": "6342", "genesymbol": "SCP2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 18465878 | 18465878 | 21375735 | | 12641450 | 7642518 | 18465878 | 17418802 | | 11734571,16685654,9245689 | 15182174,19584060,21516116,25416956,32814053 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200767", "nando_id": "NANDO:1200767", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ステロールキャリアプロテインX欠損症", "nando_label_en": "Sterol carrier protein 2 deficiency", "mondo_id": "MONDO:0013391", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64218", "ncbi_id": "64218", "genesymbol": "SEMA4A", "go_terms": "semaphorin receptor binding | protein binding | chemorepellent activity | neuropilin binding", "go_ids": "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", "go_pmid_ids": " | 17318185 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200937", "nando_id": "NANDO:1200937", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "錐体杆体ジストロフィー", "nando_label_en": "Cone-rod dystrophy", "mondo_id": "MONDO:0015993", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6427", "ncbi_id": "6427", "genesymbol": "SRSF2", "go_terms": "pre-mRNA binding | protein binding | protein kinase C binding | transcription corepressor activity | RNA binding", "go_ids": "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", "go_pmid_ids": " | 15652350,18559666,21157427,21296756,21504830,22365833,33961781,9237760,9447963 | | 15652350 | 22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_2200014", "nando_id": "NANDO:2200014", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "慢性骨髄単球性白血病", "nando_label_en": "Chronic myelomonocytic leukemia", "mondo_id": "MONDO:0020311", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6507", "ncbi_id": "6507", "genesymbol": "SLC1A3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 7521911 | 20477940,8123008 | | 26690923,28032905,8123008 | 32296183 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200525", "nando_id": "NANDO:1200525", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "小児交互性片麻痺", "nando_label_en": "Alternating hemiplegia of childhood", "mondo_id": "MONDO:0016241", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6609", "ncbi_id": "6609", "genesymbol": "SMPD1", "go_terms": "zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein 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"go_terms": "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", "go_ids": "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", "go_pmid_ids": "15361064 | 8647900 | 10527948,10531379,12054541,15280379,25825872 | 12054541 | 10531379,8647900 | 11162558,15361064,17704059 | 12535668 | 12054541,22480688,9920899 | | 15361064", "nando": 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disease", "nando_label": "先天性魚鱗癬様紅皮症", "nando_label_en": "Congenital ichthyosiform erythroderma", "mondo_id": "MONDO:0019306", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26154", "ncbi_id": "26154", "genesymbol": "ABCA12", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253", "nando": "http://nanbyodata.jp/ontology/NANDO_1200617", "nando_id": "NANDO:1200617", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "葉状魚鱗癬", "nando_label_en": "Lamellar ichthyosis", "mondo_id": "MONDO:0017778", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/26154", "ncbi_id": "26154", "genesymbol": "ABCA12", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "16007253 | | 23931754 | | | | 12697999 | 23931754 | 23931754 | 16007253", "nando": "http://nanbyodata.jp/ontology/NANDO_1200617", "nando_id": "NANDO:1200617", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "葉状魚鱗癬", "nando_label_en": "Lamellar ichthyosis", "mondo_id": "MONDO:0019306", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3423", "ncbi_id": "3423", "genesymbol": "IDS", "go_terms": "protein binding | calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_1200098", "nando_id": "NANDO:1200098", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ハンター症候群（重症型）", "nando_label_en": "Hunter syndrome type A", "mondo_id": "MONDO:0016315", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3423", "ncbi_id": "3423", "genesymbol": "IDS", "go_terms": "protein binding | calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_1200099", "nando_id": "NANDO:1200099", "nando_category": "指定難病", "nando_category_en": 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http://purl.obolibrary.org/obo/GO_0005102", "go_pmid_ids": "24036510 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200095", "nando_id": "NANDO:1200095", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "シェイエ病", "nando_label_en": "Scheie disease", "mondo_id": "MONDO:0011760", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/477", "ncbi_id": "477", "genesymbol": "ATP1A2", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0005496 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019829 | 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"go_terms": "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", "go_ids": "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", "go_pmid_ids": "12799378,16344550 | | | 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| 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 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200091", "nando_id": "NANDO:2200091", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "頭蓋咽頭腫", "nando_label_en": "Craniopharyngioma", "mondo_id": "MONDO:0018907", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3913", "ncbi_id": "3913", "genesymbol": "LAMB2", "go_terms": "protein binding | structural constituent of synapse-associated extracellular matrix | structural molecule activity | extracellular matrix structural constituent | integrin binding", "go_ids": "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", "go_pmid_ids": "32296183 | | 7698745 | 20551380,25037231,27068509,27559042,28675934 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200117", "nando_id": "NANDO:2200117", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Pierson症候群", "nando_label_en": "Pierson syndrome", "mondo_id": "MONDO:0012184", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23405", "ncbi_id": "23405", "genesymbol": "DICER1", "go_terms": "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", "go_ids": 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12411504,12411505,21753850 | 12411504,19701182 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200080", "nando_id": "NANDO:2200080", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "胸膜肺芽腫", "nando_label_en": "Pleuropulmonaryblastoma", "mondo_id": "MONDO:0011014", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/84231", "ncbi_id": "84231", "genesymbol": "TRAF7", "go_terms": "ubiquitin protein ligase activity | protein binding | zinc ion binding | ubiquitin-protein transferase activity", "go_ids": "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", "go_pmid_ids": "21518757 | 14743216,15001576,21903422,32707033,33961781 | 14743216 | 14743216", "nando": "http://nanbyodata.jp/ontology/NANDO_2200094", "nando_id": "NANDO:2200094", "nando_category": "小児慢性特定疾病", 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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", "go_pmid_ids": " | 12915445 | | | | 12915445,16902405,19536138,21233288,21378754,22543976,25107275,25869668,26496610,26824392,27107012,28514442,29125462,32296183,33961781,35271311 | 12915445 | | 1321346,25869668 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200188", "nando_id": "NANDO:2200188", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ロウ症候群", "nando_label_en": "Lowe syndrome", "mondo_id": "MONDO:0010645", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9644", "ncbi_id": "9644", "genesymbol": "SH3PXD2A", "go_terms": "protein binding | phosphatidylinositol-3,4-bisphosphate 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22797923 | 10983986 | | | | | 29104511 | 21711983 | 31204173 | 10102273 | | | 33505021 | | | | | | 21177249 | | 14749367 | | | 19203586 | 10376603 | | 21177249", "nando": "http://nanbyodata.jp/ontology/NANDO_2200094", "nando_id": "NANDO:2200094", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "髄膜腫", "nando_label_en": "Meningioma", "mondo_id": "MONDO:0016642", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5155", "ncbi_id": "5155", "genesymbol": "PDGFB", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0048407 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"http://nanbyodata.jp/ontology/NANDO_2200793", "nando_id": "NANDO:2200793", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MASP2 欠損症", "nando_label_en": "MASP2 deficiency", "mondo_id": "MONDO:0013423", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/37", "ncbi_id": "37", "genesymbol": "ACADVL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 9461620,9599005 | 9461620,9599005 | 32296183 | 9461620 | 7668252 | 9461620", "nando": "http://nanbyodata.jp/ontology/NANDO_2201139", "nando_id": "NANDO:2201139", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "発症前型極長鎖アシルCoA脱水素酵素欠損症", "nando_label_en": "Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency", "mondo_id": "MONDO:0008723", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6813", "ncbi_id": "6813", "genesymbol": "STXBP2", "go_terms": "protein binding | syntaxin-3 binding | syntaxin-1 binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030348 | http://purl.obolibrary.org/obo/GO_0017075", "go_pmid_ids": "19804848,19884660,33961781 | 18588921 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200731", "nando_id": "NANDO:2200731", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "STXBP2/Munc18-2欠損症", "nando_label_en": "STXBP2/Munc18-2 deficiency", "mondo_id": "MONDO:0013135", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6834", "ncbi_id": "6834", "genesymbol": "SURF1", "go_terms": "protein binding | cytochrome-c oxidase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0004129", "go_pmid_ids": "23260140,26321642 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200527", "nando_id": "NANDO:2200527", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "リー症候群", "nando_label_en": "Leigh syndrome", "mondo_id": "MONDO:0009723", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6927", "ncbi_id": "6927", "genesymbol": "HNF1A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12453420,15961790 | 12530534 | | 11980910,12530534,1989880 | 12453420 | 10333057,12530534,1677179,1989880 | | 1677179 | | 11980910,14500717,1677179,19264593,21988832,33961781,35140242", "nando": "http://nanbyodata.jp/ontology/NANDO_2201071", "nando_id": "NANDO:2201071", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MODY3", "nando_label_en": "Maturity-onset diabetes of the young type 3", "mondo_id": "MONDO:0010894", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/50814", "ncbi_id": "50814", "genesymbol": "NSDHL", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 32296183,32814053 | 10710235 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200998", "nando_id": "NANDO:2200998", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "CHILD症候群", "nando_label_en": "CHILD syndrome", "mondo_id": "MONDO:0010621", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25939", "ncbi_id": "25939", "genesymbol": "SAMHD1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "29670289 | 23601106,26294762 | 23601106,24217394,26294762 | 22056990,24141705 | 22461318 | 24141705 | 24217394 | 25038827,29670289 | | 21903422,23601106,28834754,28871089,29670289,30833792 | 22461318", "nando": "http://nanbyodata.jp/ontology/NANDO_2200897", "nando_id": "NANDO:2200897", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "SAMHD1欠損症", "nando_label_en": "Aicardi-Goutieres syndrome 5", "mondo_id": "MONDO:0013059", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11322", "ncbi_id": "11322", "genesymbol": "TMC6", "go_terms": "protein binding | mechanosensitive monoatomic ion channel activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008381", "go_pmid_ids": "18158319,30068544,32296183,32814053,32917726 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200768", "nando_id": "NANDO:2200768", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "疣贅状表皮発育異常症", "nando_label_en": "Epidermodysplasia verruciformis", "mondo_id": "MONDO:0009176", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/64805", "ncbi_id": "64805", "genesymbol": "P2RY12", "go_terms": "guanyl-nucleotide exchange factor activity | G protein-coupled purinergic nucleotide receptor activity | G protein-coupled ADP receptor activity | G protein-coupled adenosine receptor activity", "go_ids": "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", "go_pmid_ids": " | | 11104774,12578987 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200669", "nando_id": "NANDO:2200669", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ADP受容体異常症", "nando_label_en": "ADP receptor deficiencies", "mondo_id": "MONDO:0012354", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2122", "ncbi_id": "2122", "genesymbol": "MECOM", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0140947 | http://purl.obolibrary.org/obo/GO_0140948 | 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"FGFR2", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | 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| 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 | | | | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200848", "nando_id": "NANDO:2200848", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Seather-Chotzen症候群", "nando_label_en": "Saethre-Chotzen syndrome", "mondo_id": "MONDO:0007042", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2261", "ncbi_id": "2261", "genesymbol": "FGFR3", "go_terms": "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", "go_ids": "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 | 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"nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2538", "ncbi_id": "2538", "genesymbol": "G6PC1", "go_terms": "phosphotransferase activity, alcohol group as acceptor | protein binding | glucose-6-phosphatase activity | phosphate ion binding", "go_ids": "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", "go_pmid_ids": " | 32814053 | 10318794,12093795,15661744,8211187 | 12093795", "nando": "http://nanbyodata.jp/ontology/NANDO_2201153", "nando_id": "NANDO:2201153", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "糖原病Ia型", "nando_label_en": "Glycogen storage disease type 1a", "mondo_id": "MONDO:0009287", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2542", "ncbi_id": "2542", "genesymbol": "SLC37A4", "go_terms": "glucose-6-phosphate transmembrane transporter activity | protein binding | glucose 6-phosphate:inorganic phosphate antiporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015152 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0061513", "go_pmid_ids": "11140953,12560945 | 32296183 | 18337460,21949678", "nando": "http://nanbyodata.jp/ontology/NANDO_2201154", "nando_id": "NANDO:2201154", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "糖原病Ib型", "nando_label_en": "Glycogen storage disease type 1b", "mondo_id": "MONDO:0009288", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2588", "ncbi_id": "2588", "genesymbol": "GALNS", "go_terms": "arylsulfatase activity | N-acetylgalactosamine-6-sulfatase activity | metal ion binding | N-acetylgalactosamine-4-sulfatase activity | sulfuric ester hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004065 | 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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", "go_pmid_ids": "24211208,26724485 | | | 24211208,26724485 | 18022370 | 15916907,16293621,19279011,21700325,23580063,24211208,25584808,9201993 | 21098288,24162852,27789271 | 25202012", "nando": "http://nanbyodata.jp/ontology/NANDO_2201210", "nando_id": "NANDO:2201210", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ゴーシェ病1型", "nando_label_en": "Gaucher disease type 1", "mondo_id": "MONDO:0009265", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2632", "ncbi_id": "2632", "genesymbol": "GBE1", "go_terms": "1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation 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"glycogene": "http://glycosmos.org/glycogene/950", "ncbi_id": "950", "genesymbol": "SCARB2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 29199275 | 18022370 | 25202012 | 25202012,29199275 | 29199275 | 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"exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/55788", "ncbi_id": "55788", "genesymbol": "LMBRD1", "go_terms": "clathrin heavy chain binding | cobalamin binding | protein binding | protein transporter activity | AP-2 adaptor complex binding | insulin receptor binding", "go_ids": "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", "go_pmid_ids": " | | 25535791,27456980,28572511,32296183,33845046 | 27456980,33845046 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201110", "nando_id": "NANDO:2201110", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "コバラミン代謝異常 cblF", "nando_label_en": "Methylmalonic acidemia and homocystinuria cblF type", "mondo_id": "MONDO:0010183", "nando2mondo_match": "exactMatch" }, 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"go_pmid_ids": " | 8135828 | | 22658674 | 1550553 | 1550553 | | 20562859,21527675,28514442,29915090,30850536,32243843,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2201147", "nando_id": "NANDO:2201147", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "発症前型三頭酵素欠損症", "nando_label_en": "Presymptomatic trifunctional protein deficiency", "mondo_id": "MONDO:0012172", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3073", "ncbi_id": "3073", "genesymbol": "HEXA", "go_terms": "acetylglucosaminyltransferase activity | protein heterodimerization activity | beta-N-acetylhexosaminidase activity | N-acetyl-beta-D-galactosaminidase activity | protein binding | beta-N-acetylglucosaminidase activity", "go_ids": "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 | 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http://purl.obolibrary.org/obo/GO_0008375 | http://purl.obolibrary.org/obo/GO_0004563", "go_pmid_ids": " | 6230359 | 16698036,28514442,32296183,32814053,33961781 | | 25645918 | 8123671,8672428", "nando": "http://nanbyodata.jp/ontology/NANDO_2201200", "nando_id": "NANDO:2201200", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "サンドホフ病", "nando_label_en": "Sandhoff disease", "mondo_id": "MONDO:0010006", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3075", "ncbi_id": "3075", "genesymbol": "CFH", "go_terms": "identical protein binding | complement component C3b binding | protein binding | heparan sulfate proteoglycan binding | heparin binding", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200791", "nando_id": "NANDO:2200791", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Factor H 欠損症", "nando_label_en": "Factor H deficiency", "mondo_id": "MONDO:0012350", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3155", "ncbi_id": "3155", "genesymbol": "HMGCL", "go_terms": "magnesium ion binding | hydroxymethylglutaryl-CoA lyase activity | manganese ion binding | structural molecule activity | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0000287 | http://purl.obolibrary.org/obo/GO_0004419 | http://purl.obolibrary.org/obo/GO_0030145 | 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"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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201069", "nando_id": "NANDO:2201069", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MODY1", "nando_label_en": "Maturity-onset diabetes of the young type 1", "mondo_id": "MONDO:0007452", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3172", "ncbi_id": "3172", "genesymbol": "HNF4A", "go_terms": "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 | 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"go_pmid_ids": "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 | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201073", "nando_id": "NANDO:2201073", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "MODY5", "nando_label_en": "Maturity-onset diabetes of the young type 5", "mondo_id": "MONDO:0007669", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3207", "ncbi_id": "3207", "genesymbol": "HOXA11", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_1990837 | 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| 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", "go_ids": "http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0044023 | 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| 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", "go_pmid_ids": "8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428", "nando": "http://nanbyodata.jp/ontology/NANDO_2201206", "nando_id": "NANDO:2201206", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ニーマン・ピック病A型", "nando_label_en": "Niemann-Pick disease type A", "mondo_id": "MONDO:0009756", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6609", "ncbi_id": "6609", "genesymbol": "SMPD1", "go_terms": "zinc ion binding | acid sphingomyelin phosphodiesterase activity | sphingomyelin phosphodiesterase activity | phosphatidylcholine phospholipase C activity | hydrolase activity, acting on glycosyl bonds | protein binding", "go_ids": "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", "go_pmid_ids": "8702487,9660788 | 17303575,18815062,20807762,8702487 | 21098024,22573858,33163980,9660788 | | | 16787399,21157428", "nando": "http://nanbyodata.jp/ontology/NANDO_2201207", "nando_id": "NANDO:2201207", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ニーマン・ピック病B型", "nando_label_en": "Niemann-Pick disease type B", "mondo_id": "MONDO:0011871", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6708", "ncbi_id": "6708", "genesymbol": "SPTA1", "go_terms": "calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005509 | 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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", "go_ids": "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", "go_pmid_ids": "18402937 | | 32296183,33713620 | 18402937 | 1740104,8794883 | 18402937 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201050", "nando_id": "NANDO:2201050", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性中枢性尿崩症", "nando_label_en": "Familial central diabetes insipidus", "mondo_id": "MONDO:0007450", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51816", "ncbi_id": "51816", "genesymbol": "ADA2", "go_terms": "zinc ion binding | 2'-deoxyadenosine deaminase activity | growth factor activity | adenosine deaminase activity | heparin binding | adenosine receptor binding | proteoglycan binding | protein homodimerization activity", "go_ids": "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", "go_pmid_ids": "20147294 | | 10756095 | 20147294 | | 20147294 | 20147294 | 20147294", "nando": "http://nanbyodata.jp/ontology/NANDO_2200441", "nando_id": "NANDO:2200441", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic 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"http://glycosmos.org/glycogene/3560", "ncbi_id": "3560", "genesymbol": "IL2RB", "go_terms": "interleukin-15 receptor activity | coreceptor activity | protein binding | interleukin-2 receptor activity | cytokine receptor activity | interleukin-2 binding", "go_ids": "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", "go_pmid_ids": "15123770 | 7973659,8026467 | 16477002,22446627,23104097,25416956,32296183 | 2467293,31040184,31040185,7736574 | | 2467293,31040184,31040185", "nando": "http://nanbyodata.jp/ontology/NANDO_2201056", "nando_id": "NANDO:2201056", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎（少関節炎）", "nando_label_en": "Oligoarticular juvenile idiopathic arthritis", "mondo_id": "MONDO:0019433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3569", "ncbi_id": "3569", "genesymbol": "IL6", "go_terms": "identical protein binding | growth factor activity | cytokine activity | protein binding | interleukin-6 receptor binding", "go_ids": "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", "go_pmid_ids": "8702737 | 12643274,2261637 | 10443688,12829785,27830702,28720735,3023045,3491322 | 11238858,12829785,18775332,25401472,28265003,8702737 | 12829785,1883960", "nando": "http://nanbyodata.jp/ontology/NANDO_2201055", "nando_id": "NANDO:2201055", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎（全身型）", "nando_label_en": "Systemic juvenile idiopathic arthritis", "mondo_id": "MONDO:0019434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10577", "ncbi_id": "10577", "genesymbol": "NPC2", "go_terms": "protein binding | cholesterol binding | cholesterol transfer activity | enzyme binding", "go_ids": "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", "go_pmid_ids": "19664597,20674861,22095670,27238017,27940359 | 17018531,18772377,27238017 | 18772377,25339683,27238017 | 15110773", "nando": "http://nanbyodata.jp/ontology/NANDO_2201209", "nando_id": "NANDO:2201209", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "成人型ニーマン・ピック病C型", "nando_label_en": "Adult-onset Niemann-Pick disease type C", "mondo_id": "MONDO:0016310", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/87", "ncbi_id": "87", "genesymbol": "ACTN1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200665", "nando_id": "NANDO:2200665", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "αアクチニン1異常症", "nando_label_en": "ACTN1 mutations", "mondo_id": "MONDO:0014078", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/94", "ncbi_id": "94", "genesymbol": "ACVRL1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201047", "nando_id": "NANDO:2201047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性肺動脈性肺高血圧症", "nando_label_en": "Familial pulmonary arterial hypertension", "mondo_id": "MONDO:0017148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/161582", "ncbi_id": "161582", "genesymbol": "DNAAF4", "go_terms": "protein binding | nuclear estrogen receptor binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0030331", "go_pmid_ids": "19423554,20562859,23872636,25416956,26871637,28041644,29601588,32296183 | 19423554", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/10584", "ncbi_id": "10584", "genesymbol": "COLEC10", "go_terms": "mannose binding | protein binding | chemoattractant activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005537 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0042056", "go_pmid_ids": " | 24174618 | 28301481", "nando": "http://nanbyodata.jp/ontology/NANDO_2200792", "nando_id": "NANDO:2200792", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "3MC 症候群", "nando_label_en": "Malpuech-Michels-Mingarelli-Carnevale syndrome", "mondo_id": "MONDO:0017398", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1376", "ncbi_id": "1376", "genesymbol": "CPT2", "go_terms": "carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding", "go_ids": "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", "go_pmid_ids": "1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2201133", "nando_id": "NANDO:2201133", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "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", "nando_label_en": "Infantile-onset carnitine palmitoyl transferase II deficiency", "mondo_id": "MONDO:0015515", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1376", "ncbi_id": "1376", "genesymbol": "CPT2", "go_terms": "carnitine O-palmitoyltransferase activity | acyltransferase activity | carnitine O-octanoyltransferase activity | protein binding", "go_ids": "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", "go_pmid_ids": "1988962,20538056,7711730 | 20538056 | | 28514442,32296183,33961781", "nando": "http://nanbyodata.jp/ontology/NANDO_2201134", "nando_id": "NANDO:2201134", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "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", "nando_label_en": "Late-onset carnitine palmitoyltransferase II deficiency", "mondo_id": "MONDO:0015515", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1380", "ncbi_id": "1380", "genesymbol": "CR2", "go_terms": "complement receptor activity | protein binding | protein homodimerization activity | DNA binding | virus receptor activity | immunoglobulin receptor binding | transmembrane signaling receptor activity | complement binding", "go_ids": "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", "go_pmid_ids": "2827171 | 11387479,16172256,21527715,7753047 | 11728339 | 22885687 | 2827171 | 16172256 | 1849076,2827171 | 11034390", "nando": "http://nanbyodata.jp/ontology/NANDO_2200801", "nando_id": "NANDO:2200801", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "CR2欠損症", "nando_label_en": "CD21 deficiency", "mondo_id": "MONDO:0013862", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1629", "ncbi_id": "1629", "genesymbol": "DBT", "go_terms": "protein binding | lipoic acid binding | 2-oxoisovalerate dehydrogenase 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"nando_label_en": "Intermediate maple syrup urine disease", "mondo_id": "MONDO:0017052", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1629", "ncbi_id": "1629", "genesymbol": "DBT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22291014,28514442,33961781 | | 3593587 | 19725078 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201080", "nando_id": "NANDO:2201080", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "間欠型メープルシロップ尿症", "nando_label_en": "Intermittent maple syrup urine disease", "mondo_id": "MONDO:0017053", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1629", "ncbi_id": "1629", "genesymbol": "DBT", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22291014,28514442,33961781 | | 3593587 | 19725078 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201081", "nando_id": "NANDO:2201081", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "チアミン反応型メープルシロップ尿症", "nando_label_en": "Thiamine-responsive maple syrup urine disease", "mondo_id": "MONDO:0017054", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1767", "ncbi_id": "1767", "genesymbol": "DNAH5", "go_terms": "dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | minus-end-directed microtubule motor activity | dynein light intermediate chain binding", "go_ids": "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", "go_pmid_ids": " | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1770", "ncbi_id": "1770", "genesymbol": "DNAH9", "go_terms": "dynein light intermediate chain binding | dynein intermediate chain binding | minus-end-directed microtubule motor activity | ATP hydrolysis activity | ATP binding | protein binding", "go_ids": "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", "go_pmid_ids": " | | | | | 30471718", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1954", "ncbi_id": "1954", "genesymbol": "MEGF8", "go_terms": "calcium ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 21078624", "nando": "http://nanbyodata.jp/ontology/NANDO_2200847", "nando_id": "NANDO:2200847", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Carpenter症候群", "nando_label_en": "Carpenter syndrome", "mondo_id": "MONDO:0019012", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/200373", "ncbi_id": "200373", "genesymbol": "CFAP221", "go_terms": "calmodulin binding", "go_ids": 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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", "go_pmid_ids": "21126803 | | | | 11518510 | 10397731,14681217,16754661,16754960,18587047,21596751,21947080,26779610,7639691 | 11518510 | 25336636 | | | 24823363", "nando": "http://nanbyodata.jp/ontology/NANDO_2200647", "nando_id": "NANDO:2200647", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "新生児同種免疫性血小板減少症", "nando_label_en": "Neonatal alloimmune thrombocytopenia", "mondo_id": "MONDO:0019415", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3674", "ncbi_id": "3674", "genesymbol": "ITGA2B", "go_terms": "metal ion binding | identical protein binding | integrin binding | molecular adaptor activity | extracellular matrix binding | fibrinogen binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 11606749,14681217,15067009 | | 11412103 | | | 14681217,15378069,19279667,19805198,22178926,22779914,25849143,30305279,37184585", "nando": "http://nanbyodata.jp/ontology/NANDO_2200647", "nando_id": "NANDO:2200647", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "新生児同種免疫性血小板減少症", "nando_label_en": "Neonatal alloimmune thrombocytopenia", "mondo_id": "MONDO:0019415", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3690", "ncbi_id": "3690", "genesymbol": "ITGB3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200647", "nando_id": "NANDO:2200647", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "新生児同種免疫性血小板減少症", "nando_label_en": "Neonatal alloimmune thrombocytopenia", "mondo_id": "MONDO:0019415", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3777", "ncbi_id": "3777", "genesymbol": "KCNK3", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12198146 | | 23169818 | 12198146 | 9312005 | 12198146 | 26919430 | 23169818 | 9312005 | | 22948150", "nando": "http://nanbyodata.jp/ontology/NANDO_2201047", "nando_id": "NANDO:2201047", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "家族性肺動脈性肺高血圧症", "nando_label_en": "Familial pulmonary arterial hypertension", "mondo_id": "MONDO:0017148", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3783", "ncbi_id": "3783", "genesymbol": "KCNN4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 18796614,26148990 | 12198491,18796614,27092946,32296183 | 10026195,10961988,11425865,15831468,17157250,18796614,26148990,26418693,9326665,9380751,9407042 | | 29953543 | 29724949 | 18796614", "nando": "http://nanbyodata.jp/ontology/NANDO_2200633", "nando_id": "NANDO:2200633", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Stomatocytic Xerocytosis", "nando_label_en": "Stomatocytic xerocytosis", "mondo_id": "MONDO:0017910", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3848", "ncbi_id": "3848", "genesymbol": "KRT1", "go_terms": "protein binding | protein heterodimerization activity | structural constituent of skin epidermis | carbohydrate binding | signaling receptor activity", "go_ids": "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", "go_pmid_ids": "11290596,16923132,20562859,24940650,25910212,27595935,32296183,39009827 | 27595935 | 7543090 | 11549596 | 11290596", "nando": "http://nanbyodata.jp/ontology/NANDO_2200988", "nando_id": "NANDO:2200988", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "常染色体優性表皮融解性魚鱗癬", "nando_label_en": "Autosomal dominant epidermolytic ichthyosis", "mondo_id": "MONDO:0020702", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3858", "ncbi_id": "3858", "genesymbol": "KRT10", "go_terms": "protein heterodimerization activity | structural constituent of skin epidermis | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0030280 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "27595935 | 2459124,7543090 | 19627498,24940650,27595935", "nando": 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epidermolytic ichthyosis", "mondo_id": "MONDO:0044742", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3998", "ncbi_id": "3998", "genesymbol": "LMAN1", "go_terms": "protein binding | metal ion binding | mannose binding | unfolded protein binding", "go_ids": "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", "go_pmid_ids": "16304051,17805346,17971482,18287528,19787799,20138881,20142513,22337587,24806965,31142615,33961781,34779586,35271311,9774442 | 24498414 | | 9546392", "nando": "http://nanbyodata.jp/ontology/NANDO_2200686", "nando_id": "NANDO:2200686", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性第VおよびVIII因子合併欠乏症", "nando_label_en": "Combined deficiency of coagulation factors V and VIII", "mondo_id": "MONDO:0018175", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6710", "ncbi_id": "6710", "genesymbol": "SPTB", "go_terms": "structural constituent of cytoskeleton | actin binding | ankyrin binding | protein binding | actin filament binding", "go_ids": "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", "go_pmid_ids": " | 2195026 | 8159688 | 10751147,12820899,16060676,20197550,23414517,32814053,33961781 | 16060676", "nando": "http://nanbyodata.jp/ontology/NANDO_2200630", "nando_id": "NANDO:2200630", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性楕円赤血球症", "nando_label_en": "Hereditary elliptocytosis", "mondo_id": "MONDO:0017319", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6773", "ncbi_id": "6773", "genesymbol": "STAT2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2200770", "nando_id": "NANDO:2200770", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "STAT2欠損症", "nando_label_en": "STAT2 deficiency", "mondo_id": "MONDO:0014715", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6775", "ncbi_id": "6775", "genesymbol": "STAT4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "22740693,32814053 | | | 31562212,37256972 | 18591661", "nando": "http://nanbyodata.jp/ontology/NANDO_2201056", "nando_id": "NANDO:2201056", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎（少関節炎）", "nando_label_en": 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http://purl.obolibrary.org/obo/GO_0001228 | http://purl.obolibrary.org/obo/GO_0035259 | http://purl.obolibrary.org/obo/GO_0003682", "go_pmid_ids": "29844444 | | 21106534,31175292,32296183,33961781,9989503 | | 31175292 | 8631883 | | 29844444 | 12552091 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200737", "nando_id": "NANDO:2200737", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "STAT5b欠損症", "nando_label_en": "STAT5b deficiency", "mondo_id": "MONDO:0100211", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/115399", "ncbi_id": "115399", "genesymbol": "LRRC56", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "30388400,32296183,32814053", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25981", "ncbi_id": "25981", "genesymbol": "DNAH1", "go_terms": "ATP binding | microtubule motor activity | minus-end-directed microtubule motor activity | dynein intermediate chain binding | dynein light intermediate chain binding", "go_ids": "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", "go_pmid_ids": " | 9373155 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": 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"FHL1", "go_terms": "zinc ion binding | protein binding | transmembrane transporter binding | metal ion binding", "go_ids": "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", "go_pmid_ids": " | 18482256,19401155,20969868,21900206,23414517,28671123,35271311 | 18281375 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200875", "nando_id": "NANDO:2200875", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "還元小体ミオパチー", "nando_label_en": "Reducing body myopathy", "mondo_id": "MONDO:0019948", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2632", "ncbi_id": "2632", "genesymbol": "GBE1", "go_terms": "1,4-alpha-glucan branching enzyme activity | hydrolase activity, hydrolyzing O-glycosyl compounds | carbohydrate binding | cation binding | protein binding", "go_ids": 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| 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", "go_pmid_ids": " | 7565688,9020165 | | | 18362360,19124606,22810585,23622242,23853584,24136289,28355180,32814053 | | | 22658674,22681889", "nando": "http://nanbyodata.jp/ontology/NANDO_2200898", "nando_id": "NANDO:2200898", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ADAR1欠損症", "nando_label_en": "Aicardi-Goutieres syndrome 6", "mondo_id": "MONDO:0014007", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/339829", "ncbi_id": "339829", "genesymbol": "CCDC39", "go_terms": "", "go_ids": "", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", 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15644415,16273093,24642916,24658140,24728074,25241761,25814554,31980649,33961781 | | 32514138 | 11606584,14656219", "nando": "http://nanbyodata.jp/ontology/NANDO_2200455", "nando_id": "NANDO:2200455", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "フォスフォリパーゼCγ2関連抗体欠損免疫異常症", "nando_label_en": "PLCG2-associated antibody deficiency and immune dysregulation", "mondo_id": "MONDO:0013766", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "http://purl.obolibrary.org/obo/GO_1905577 | http://purl.obolibrary.org/obo/GO_0042802 | 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{ "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_2201204", "nando_id": "NANDO:2201204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "成人型異染性白質ジストロフィー", "nando_label_en": "Metachromatic leukodystrophy, adult form", "mondo_id": "MONDO:0017730", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5771", "ncbi_id": "5771", "genesymbol": "PTPN2", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "12359225,12907755,15696169,16595549,19273555,22080863,28514442,33961781,35013194 | | 18819921 | | | 11909529,15696169 | | 23006999 | 11909529,12138178,12612081,14966296,17210636,23006999 | 15592458", "nando": "http://nanbyodata.jp/ontology/NANDO_2201056", "nando_id": "NANDO:2201056", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎（少関節炎）", "nando_label_en": "Oligoarticular juvenile idiopathic arthritis", "mondo_id": "MONDO:0019433", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6521", "ncbi_id": "6521", "genesymbol": "SLC4A1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 379653 | 10950304 | 4027230 | | 24121512 | 14734552,24121512 | 16669616,19438409,20980406,2204832,23219802,25012180,26049106,26823170,28387307,32296183 | 379653 | 28387307", "nando": "http://nanbyodata.jp/ontology/NANDO_2200633", "nando_id": "NANDO:2200633", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Stomatocytic Xerocytosis", "nando_label_en": "Stomatocytic xerocytosis", "mondo_id": "MONDO:0017910", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6674", "ncbi_id": "6674", "genesymbol": "SPAG1", "go_terms": "GTP binding | hydrolase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016787", "go_pmid_ids": " | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6708", "ncbi_id": "6708", "genesymbol": "SPTA1", "go_terms": "calcium ion binding | protein binding | structural constituent of cytoskeleton | actin filament binding", "go_ids": "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", "go_pmid_ids": " | 12820899,20197550,32296183,33961781,9593709 | 1634521 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200630", "nando_id": "NANDO:2200630", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "遺伝性楕円赤血球症", "nando_label_en": "Hereditary elliptocytosis", "mondo_id": "MONDO:0017319", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/78989", "ncbi_id": "78989", "genesymbol": "COLEC11", "go_terms": "identical protein binding | DNA binding | oligosaccharide binding | calcium-dependent carbohydrate binding | fucose binding | mannose binding | calcium ion binding | protein binding", "go_ids": "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", "go_pmid_ids": "20956340,24174618 | 20956340,23954398 | 25912189 | 25912189 | 20956340 | 20956340,25912189 | 25912189 | 20956340,24174618,32041782,32045104", "nando": "http://nanbyodata.jp/ontology/NANDO_2200792", "nando_id": "NANDO:2200792", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "3MC 症候群", "nando_label_en": "Malpuech-Michels-Mingarelli-Carnevale syndrome", "mondo_id": "MONDO:0017398", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54768", "ncbi_id": "54768", "genesymbol": "HYDIN", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8701", "ncbi_id": "8701", "genesymbol": "DNAH11", "go_terms": "dynein intermediate chain binding | ATP hydrolysis activity | ATP binding | dynein light intermediate chain binding | minus-end-directed microtubule motor activity", "go_ids": "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", "go_pmid_ids": " | | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/92749", "ncbi_id": "92749", "genesymbol": "DRC1", "go_terms": "protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "34169321", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/79925", "ncbi_id": "79925", "genesymbol": "SPEF2", "go_terms": "", "go_ids": "", "go_pmid_ids": "", "nando": "http://nanbyodata.jp/ontology/NANDO_2200204", "nando_id": "NANDO:2200204", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "カルタゲナー症候群", "nando_label_en": "Kartagener syndrome", "mondo_id": "MONDO:0016575", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/144811", "ncbi_id": "144811", "genesymbol": "LACC1", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "31978345 | 31978345 | | | 31978345 | 31978345 | 27478939,28514442,31875558,33961781 | 27959965,31978345", "nando": "http://nanbyodata.jp/ontology/NANDO_2201055", "nando_id": "NANDO:2201055", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "若年性特発性関節炎（全身型）", "nando_label_en": "Systemic juvenile idiopathic arthritis", "mondo_id": "MONDO:0019434", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3423", "ncbi_id": "3423", "genesymbol": "IDS", "go_terms": "protein binding | calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_2201171", "nando_id": "NANDO:2201171", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "軽症型ムコ多糖症II型", "nando_label_en": "Mucopolysaccharidosis type II, attenuated form", "mondo_id": "MONDO:0016316", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3423", "ncbi_id": "3423", "genesymbol": "IDS", "go_terms": "protein binding | calcium ion binding | iduronate-2-sulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005509 | http://purl.obolibrary.org/obo/GO_0004423", "go_pmid_ids": "15962010 | 28593992 | 10838181", "nando": "http://nanbyodata.jp/ontology/NANDO_2201172", "nando_id": "NANDO:2201172", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "中間型ムコ多糖症II型", "nando_label_en": "Mucopolysaccharidosis type II, intermediate form", 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binding | interleukin-22 receptor activity | JAK pathway signal transduction adaptor activity", "go_ids": "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", "go_pmid_ids": "11046044,16710296,17923090,21854986,28165510,33961781,7665574,9121453 | 8798579,8969169 | 10556041,21854986,7665574,7759950 | 7759950 | 7759950 | | 34813358", "nando": "http://nanbyodata.jp/ontology/NANDO_2200770", "nando_id": "NANDO:2200770", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "STAT2欠損症", "nando_label_en": "STAT2 deficiency", "mondo_id": "MONDO:0014715", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3586", "ncbi_id": "3586", "genesymbol": "IL10", 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201419", "nando_id": "NANDO:2201419", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ピット・ホプキンス症候群", "nando_label_en": "Pitt-Hopkins syndrome", "mondo_id": "MONDO:0012589", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/50964", "ncbi_id": "50964", "genesymbol": "SOST", "go_terms": "heparin binding | BMP binding | DNA-binding transcription factor binding | protein binding | carbohydrate binding | molecular function inhibitor activity", "go_ids": "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", "go_pmid_ids": " | | 17696759 | 15908424,21471202,21944579,28514442,32296183,33961781 | 19208630 | 19208630,21944579", "nando": "http://nanbyodata.jp/ontology/NANDO_2201368", "nando_id": "NANDO:2201368", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "頭蓋骨幹異形成症", "nando_label_en": "Craniodiaphyseal dysplasia", "mondo_id": "MONDO:0009031", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/50964", "ncbi_id": "50964", "genesymbol": "SOST", "go_terms": "heparin binding | BMP binding | DNA-binding transcription factor binding | protein binding | carbohydrate binding | molecular function inhibitor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0036122 | 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"nando_label": "コーエン症候群", "nando_label_en": "Cohen syndrome", "mondo_id": "MONDO:0008999", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/23592", "ncbi_id": "23592", "genesymbol": "LEMD3", "go_terms": "protein binding | U1 snRNP binding | DNA binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1990446 | http://purl.obolibrary.org/obo/GO_0003677", "go_pmid_ids": "15231748,15647271,24407287,28514442,32296183,33961781 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201364", "nando_id": "NANDO:2201364", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "流蝋骨症", "nando_label_en": "Melorheostosis", "mondo_id": "MONDO:0007970", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/25778", "ncbi_id": "25778", "genesymbol": "DSTYK", "go_terms": "protein tyrosine kinase activity | protein serine/threonine/tyrosine kinase activity | protein binding | protein serine kinase activity | protein serine/threonine kinase activity | ATP binding", "go_ids": "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", "go_pmid_ids": " | | 36931259 | | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201461", "nando_id": "NANDO:2201461", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "一側腎無形成", "nando_label_en": "Unilateral renal agenesis", "mondo_id": "MONDO:0019636", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11128", "ncbi_id": "11128", "genesymbol": "POLR3A", "go_terms": "zinc ion binding | protein binding | RNA polymerase V activity | mitochondrial single subunit type RNA polymerase activity | magnesium ion 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| 34675218 | | 34675218,9331371", "nando": "http://nanbyodata.jp/ontology/NANDO_2201295", "nando_id": "NANDO:2201295", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "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", "nando_label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "mondo_id": "MONDO:0018655", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/11128", "ncbi_id": "11128", "genesymbol": "POLR3A", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "34675218 | 11416169,25036637,33961781,35271311 | | | 34675218 | | | | | | | 34675218 | | 34675218,9331371", "nando": "http://nanbyodata.jp/ontology/NANDO_2201297", "nando_id": "NANDO:2201297", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "失調、歯牙低形成を伴う髄鞘形成不全症", "nando_label_en": "Ataxia, delayed dentition, 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| 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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201454", "nando_id": "NANDO:2201454", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "全消化管型若年性ポリポーシス", "nando_label_en": "Generalized juvenile polyposis", "mondo_id": "MONDO:0008276", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2022", "ncbi_id": "2022", "genesymbol": "ENG", "go_terms": "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", "go_ids": "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 | 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"genesymbol": "F5", "go_terms": "copper ion binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005507 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 2844223,28514442,33961781,6323392,9556620", "nando": "http://nanbyodata.jp/ontology/NANDO_2201475", "nando_id": "NANDO:2201475", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "バッド・キアリ症候群", "nando_label_en": "Budd-Chiari syndrome", "mondo_id": "MONDO:0010947", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2260", "ncbi_id": "2260", "genesymbol": "FGFR1", "go_terms": "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 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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", "go_pmid_ids": "24157794 | | 19696444,20133753 | | | | | 18480409,20133753,2167437 | | | | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201444", "nando_id": "NANDO:2201444", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性全身性脂肪萎縮症", "nando_label_en": "Generalized congenital lipodystrophy", "mondo_id": "MONDO:0018883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2475", "ncbi_id": "2475", "genesymbol": "MTOR", "go_terms": "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 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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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201364", "nando_id": "NANDO:2201364", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "流蝋骨症", "nando_label_en": "Melorheostosis", "mondo_id": "MONDO:0007970", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/415", "ncbi_id": "415", "genesymbol": "ARSL", "go_terms": "metal ion binding | arylsulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065", "go_pmid_ids": " | 9497243", "nando": "http://nanbyodata.jp/ontology/NANDO_2201356", "nando_id": "NANDO:2201356", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "X連鎖性劣性末節骨短縮型点状軟骨異形成症", "nando_label_en": "X-linked recessive brachytelephalangic chondrodysplasia punctata", "mondo_id": "MONDO:0010555", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/415", "ncbi_id": "415", "genesymbol": "ARSL", "go_terms": "metal ion binding | arylsulfatase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004065", "go_pmid_ids": " | 9497243", "nando": "http://nanbyodata.jp/ontology/NANDO_2201360", "nando_id": "NANDO:2201360", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "末節骨短縮型点状軟骨異形成症", "nando_label_en": "Brachytelephalangic chondrodysplasia punctata", "mondo_id": "MONDO:0010555", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5256", "ncbi_id": "5256", "genesymbol": "PHKA2", "go_terms": "phosphorylase kinase activity | protein binding | calmodulin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0004689 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0005516", "go_pmid_ids": "7549948 | 23455922,26496610,28514442,32296183,32707033,32814053,33961781,35271311 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1201175", "nando_id": "NANDO:1201175", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ホスホリラーゼキナーゼ欠損症", "nando_label_en": "Phosphorylase kinase deficiency", "mondo_id": "MONDO:0010598", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5339", "ncbi_id": "5339", "genesymbol": "PLEC", "go_terms": "RNA binding | cadherin binding | identical protein binding | ankyrin binding | protein binding | dystroglycan binding | actin filament binding | structural constituent of muscle | structural constituent of cytoskeleton", "go_ids": "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", "go_pmid_ids": "22658674 | 25468996 | | 21223964 | 12482924,18827015,19242489,19932097,22240165,24940650,25959826,30021884,32814053,33961781,35044719 | | | 21109228,8696340 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201376", "nando_id": "NANDO:2201376", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "筋ジストロフィー合併型表皮水疱症", "nando_label_en": "Epidermolysis bullosa simplex with muscular dystrophy", "mondo_id": "MONDO:0009181", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5339", "ncbi_id": "5339", "genesymbol": "PLEC", "go_terms": "RNA binding | cadherin binding | identical protein binding | ankyrin binding | protein binding | dystroglycan binding | actin filament binding | structural constituent of muscle | structural constituent of cytoskeleton", "go_ids": "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", "go_pmid_ids": "22658674 | 25468996 | | 21223964 | 12482924,18827015,19242489,19932097,22240165,24940650,25959826,30021884,32814053,33961781,35044719 | | | 21109228,8696340 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201380", "nando_id": "NANDO:2201380", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "幽門閉鎖合併型表皮水疱症", "nando_label_en": "Junctional epidermolysis bullosa with pyloric atresia", "mondo_id": "MONDO:0009183", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5351", "ncbi_id": "5351", "genesymbol": "PLOD1", "go_terms": "procollagen-lysine 5-dioxygenase activity | protein binding | L-ascorbic acid binding | iron ion binding | procollagen glucosyltransferase activity", "go_ids": "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", "go_pmid_ids": "10934207,8621606,9582318,9724729 | 26496610,28514442,33961781 | | | 10934207", "nando": "http://nanbyodata.jp/ontology/NANDO_2201259", "nando_id": "NANDO:2201259", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "後側彎型エーラス・ダンロス症候群", "nando_label_en": "Ehlers-Danlos syndrome, kyphoscoliotic type", "mondo_id": "MONDO:0016002", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5354", "ncbi_id": "5354", "genesymbol": "PLP1", "go_terms": "structural constituent of myelin sheath | structural molecule activity | identical protein binding | protein-containing complex binding | protein binding", "go_ids": "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", "go_pmid_ids": " | 2479017 | 17962415 | | 25416956,25910212,26871637,26960425,32296183,32814053,35217805", "nando": "http://nanbyodata.jp/ontology/NANDO_2201288", "nando_id": "NANDO:2201288", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ペリツェウス・メルツバッハ病", "nando_label_en": "Pelizaeus-Merzbacher disease", "mondo_id": "MONDO:0010714", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5468", "ncbi_id": "5468", "genesymbol": "PPARG", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201444", "nando_id": "NANDO:2201444", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "先天性全身性脂肪萎縮症", "nando_label_en": "Generalized congenital lipodystrophy", "mondo_id": "MONDO:0018883", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5538", "ncbi_id": "5538", "genesymbol": "PPT1", "go_terms": "long-chain acyl-CoA hydrolase activity | lysophosphatidic acid binding | protein binding | sulfatide binding | palmitoyl-(protein) hydrolase activity", "go_ids": "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", "go_pmid_ids": "10658183 | 18317235 | 17237713,19941651,25544563,32814053 | 18317235 | 10658183,10737604,7637805", "nando": "http://nanbyodata.jp/ontology/NANDO_2201241", "nando_id": "NANDO:2201241", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "乳児型神経セロイドリポフスチン症", "nando_label_en": "Infantile neuronal ceroid lipofuscinosis", "mondo_id": "MONDO:0009744", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5551", "ncbi_id": "5551", "genesymbol": "PRF1", "go_terms": "pore-forming activity | protein binding | identical protein binding | wide pore channel activity | calcium ion binding", "go_ids": "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", "go_pmid_ids": " | 11911826,25416956,32296183 | 21037563,21685908 | 20038786,20889983,24558045 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201276", "nando_id": "NANDO:2201276", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "特発性再生不良性貧血", "nando_label_en": "Idiopathic aplastic anemia", "mondo_id": "MONDO:0012197", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5660", "ncbi_id": "5660", "genesymbol": "PSAP", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "1454804 | 18462685 | 1454804 | 2717620 | 23555801 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685 | 14674747 | 1454804 | 24872419", "nando": "http://nanbyodata.jp/ontology/NANDO_2201216", "nando_id": "NANDO:2201216", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "乳児型クラッベ病", "nando_label_en": "Infantile Krabbe disease", "mondo_id": "MONDO:0016089", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/5728", "ncbi_id": "5728", "genesymbol": "PTEN", "go_terms": "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 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| 18086682", "nando": "http://nanbyodata.jp/ontology/NANDO_2201293", "nando_id": "NANDO:2201293", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Hsp60シャペロン病", "nando_label_en": "Mitochondrial Hsp60 chaperonopathy", "mondo_id": "MONDO:0012824", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3458", "ncbi_id": "3458", "genesymbol": "IFNG", "go_terms": "type II interferon receptor binding | cytokine activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005133 | http://purl.obolibrary.org/obo/GO_0005125 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": " | 16914093,26227742 | 11250200,18252829,28514442,33961781,7617032", "nando": "http://nanbyodata.jp/ontology/NANDO_2201276", "nando_id": "NANDO:2201276", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "特発性再生不良性貧血", "nando_label_en": "Idiopathic aplastic 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"exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1497", "ncbi_id": "1497", "genesymbol": "CTNS", "go_terms": "L-cystine transmembrane transporter activity | protein binding | solute:proton symporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0015184 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015295", "go_pmid_ids": "11689434,15128704,22232659,36113465,9537412 | 32296183 | 11689434,22232659,36113465", "nando": "http://nanbyodata.jp/ontology/NANDO_2201234", "nando_id": "NANDO:2201234", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "腎型シスチン症", "nando_label_en": "Nephropathic cystinosis", "mondo_id": "MONDO:0100151", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3630", "ncbi_id": "3630", "genesymbol": "INS", "go_terms": "insulin receptor binding | protein binding | hormone activity | identical protein binding | protease binding | insulin-like growth factor receptor binding", "go_ids": "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", "go_pmid_ids": "7556975,8452530,9667398 | 17051221,23302862,29512653,29764935,32296183,9388210,9773776 | 14986111,381941,9667398 | 17472440,20738396,22854022,23106816,23416304,23510797 | 20082125 | 8452530", "nando": "http://nanbyodata.jp/ontology/NANDO_2201435", "nando_id": "NANDO:2201435", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "永続性新生児糖尿病", "nando_label_en": "Permanent neonatal diabetes mellitus", "mondo_id": "MONDO:0100164", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3651", "ncbi_id": "3651", "genesymbol": "PDX1", "go_terms": "DNA-binding transcription factor 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http://purl.obolibrary.org/obo/GO_0015467 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2201516", "nando_id": "NANDO:2201516", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "Andersen-Tawil症候群", "nando_label_en": "Andersen-Tawil syndrome", "mondo_id": "MONDO:0008222", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3762", "ncbi_id": "3762", "genesymbol": "KCNJ5", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "20560207 | 12297500,20560207,22628607,24037882,27099398,27293068,8558261 | 20560207 | 8558261,8834003,8868049 | 12297500,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1201117", "nando_id": "NANDO:1201117", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "Andersen-Tawil症候群", "nando_label_en": "Andersen-Tawil syndrome", "mondo_id": "MONDO:0008222", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6774", "ncbi_id": "6774", "genesymbol": "STAT3", "go_terms": "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", "go_ids": "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 | 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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", "nando": "http://nanbyodata.jp/ontology/NANDO_2201435", "nando_id": "NANDO:2201435", "nando_category": "小児慢性特定疾病", 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binding", "go_ids": "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", "go_pmid_ids": " | 12941786,16173921,8446612 | 12941786,16173921,18322640,19146401,22611063,8446612 | | 12941786,16173921,8446612 | | 11522786,16173921,32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_2201435", "nando_id": "NANDO:2201435", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "永続性新生児糖尿病", "nando_label_en": "Permanent neonatal diabetes mellitus", "mondo_id": "MONDO:0100164", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6833", "ncbi_id": "6833", "genesymbol": "ABCC8", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "26181369 | | 24814349,25720052,26181369 | | | 28842488 | | | | | 20610380 | 19805355", "nando": "http://nanbyodata.jp/ontology/NANDO_2201435", "nando_id": "NANDO:2201435", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "永続性新生児糖尿病", "nando_label_en": "Permanent neonatal diabetes mellitus", "mondo_id": "MONDO:0100164", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/336", "ncbi_id": "336", "genesymbol": "APOA2", "go_terms": "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", 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11991719,14967812,17786215,25416956,29892012,32296183 | 14967812", "nando": "http://nanbyodata.jp/ontology/NANDO_1201125", "nando_id": "NANDO:1201125", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "遺伝性アポリポ蛋白 A-II アミロイドーシス", "nando_label_en": "Hereditary apolipoprotein A-II amyloidosis", "mondo_id": "MONDO:0016533", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/9401", "ncbi_id": "9401", "genesymbol": "RECQL4", "go_terms": "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", "go_ids": "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", "go_pmid_ids": " | 22039056 | | | | | | 22039056 | | | 21044950,22039056 | | | 19177149 | 22039056 | 19177149 | | 19177149 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2201529", "nando_id": "NANDO:2201529", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "ロスムンド・トムソン症候群 type2", "nando_label_en": "Rothmund-Thomson syndrome type2", "mondo_id": "MONDO:0016369", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8398", "ncbi_id": "8398", "genesymbol": "PLA2G6", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "32296183 | 15908428,20886109,23533611 | | | 20886109 | | | 9417066 | 20886109 | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1201155", "nando_id": "NANDO:1201155", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳内鉄沈着神経変性症2A型", "nando_label_en": "Neurodegeneration with brain iron accumulation type2A", "mondo_id": "MONDO:0024457", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/8398", "ncbi_id": "8398", "genesymbol": "PLA2G6", "go_terms": "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", "go_ids": "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", "go_pmid_ids": "32296183 | 15908428,20886109,23533611 | | | 20886109 | | | 9417066 | 20886109 | 32296183", "nando": "http://nanbyodata.jp/ontology/NANDO_1201156", "nando_id": "NANDO:1201156", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "脳内鉄沈着神経変性症2B型", "nando_label_en": "Neurodegeneration with brain iron accumulation type2B", "mondo_id": "MONDO:0012444", "nando2mondo_match": "exactMatch" } ]