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"go_pmid_ids": "http://purl.obolibrary.org/obo/go/references/0000033 | 21149568", "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/80206", "ncbi_id": "80206", "genesymbol": "FHOD3", "go_terms": "actin filament binding | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0051015 | http://purl.obolibrary.org/obo/GO_0005515", "go_pmid_ids": "http://purl.obolibrary.org/obo/go/references/0000033 | 21149568", "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": 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17592131,19022905,19171884,19369197,19828437,21257910,23831581,26643113,31999698 | | 12968035,16369483,16595634,16790527,19171884,20195357,21252941,22508683,24023695,24234043,24981860,26643113,28514442,29128334,31292775,32814053,33961781", "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/6657", "ncbi_id": "6657", "genesymbol": "SOX2", "go_terms": "transcription cis-regulatory region binding | miRNA binding | DNA-binding transcription factor activity, RNA polymerase II-specific | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA-binding transcription activator activity, RNA polymerase II-specific | nitric-oxide synthase binding | DNA-binding transcription 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| http://purl.obolibrary.org/obo/go/references/0000033 | http://purl.obolibrary.org/obo/go/references/0000033 | http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000104", "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/54209", "ncbi_id": "54209", "genesymbol": "TREM2", "go_terms": "peptidoglycan binding | scaffold protein binding | kinase activator activity | apolipoprotein A-I binding | apolipoprotein binding | protein tyrosine kinase binding | lipoprotein particle binding | high-density lipoprotein particle binding | lipid binding | lipoteichoic acid binding | sulfatide binding | semaphorin receptor activity | carbohydrate derivative binding | 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7590285,http://purl.obolibrary.org/obo/go/references/0000033 | 11583995 | 11583995,15703209,16325581,16551695,16636290,16696976,17257598,17412836,17676042,18353773,18388313,18480402,19380743,20711168,21706016,21900206,21988832,22022388,22623184,24970086,27107012,29437695,31980649,32296183,32315611,32814053,33961781,35271311,40205054 | 7590285,http://purl.obolibrary.org/obo/go/references/0000002 | 34744632", "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/1959", "ncbi_id": "1959", "genesymbol": "EGR2", "go_terms": "sequence-specific DNA binding | zinc ion binding | RNA polymerase II-specific DNA-binding transcription factor binding | DNA-binding transcription factor activity | 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17717711,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000113", "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/24", "ncbi_id": "24", "genesymbol": "ABCA4", "go_terms": "ATP binding | obsolete phospholipid transporter activity | flippase activity | ATP hydrolysis activity | all-trans retinal binding | ATPase-coupled transmembrane transporter activity | retinoid binding | 11-cis retinal binding | phosphatidylethanolamine flippase activity | N-retinylidene-phosphatidylethanolamine flippase activity | ABC-type transporter activity | GTPase activity | ATPase-coupled 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9305964,http://purl.obolibrary.org/obo/go/references/0000116 | ", "nando": "http://nanbyodata.jp/ontology/NANDO_1200325", "nando_id": "NANDO:1200325", "nando_category": "指定難病", "nando_category_en": "Designated intractable 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": "DNA-binding transcription factor binding | NF-kappaB binding | core promoter sequence-specific DNA binding | ribosomal small subunit binding | protein kinase binding | histone binding | molecular adaptor activity | protein kinase inhibitor activity | protein binding | ribosomal large subunit binding | Tat protein binding | protein homodimerization activity | RNA binding | rRNA binding | chromatin binding | transcription coactivator activity | identical protein binding | nucleic acid 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"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 corneal dystrophy", "mondo_id": "MONDO:0008777", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/56999", "ncbi_id": "56999", "genesymbol": "ADAMTS9", "go_terms": "metallopeptidase activity | endopeptidase activity | metalloendopeptidase activity | zinc ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0008270", "go_pmid_ids": "10936055,12514189,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000117 | | 37169079,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033 | http://purl.obolibrary.org/obo/go/references/0000002", "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/64240", "ncbi_id": "64240", "genesymbol": "ABCG5", "go_terms": "protein heterodimerization activity | ATP hydrolysis activity | ATPase-coupled transmembrane transporter activity | protein binding | protein dimerization activity | metal ion binding | cholesterol transfer activity | ABC-type transporter activity | ATP binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0046982 | http://purl.obolibrary.org/obo/GO_0016887 | http://purl.obolibrary.org/obo/GO_0042626 | 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29518356,30333625,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000117 | 11602640,28490631,29611543,30341064 | 29518356,32514138,http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | 30683932 | 27477018 | http://purl.obolibrary.org/obo/go/references/0000107 | 29518356 | 27477018 | 31101881 | 31101881,31902528 | 29518356 | 27995897", "nando": "http://nanbyodata.jp/ontology/NANDO_1200658", "nando_id": "NANDO:1200658", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "那須・ハコラ病", "nando_label_en": "Nasu-Hakola disease", "mondo_id": "MONDO:0009092", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/54872", "ncbi_id": "54872", "genesymbol": "PIGG", "go_terms": "obsolete CP2 mannose-ethanolamine phosphotransferase activity | protein binding | transferase activity | mannose-ethanolamine phosphotransferase 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2188730,2344612,24741066,37788673,37832547,http://purl.obolibrary.org/obo/go/references/0000107 | 3453101,8344919 | 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 | 25910212", "nando": "http://nanbyodata.jp/ontology/NANDO_1201007", "nando_id": "NANDO:1201007", "nando_category": "指定難病", "nando_category_en": "Designated intractable 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/29127", "ncbi_id": "29127", "genesymbol": "RACGAP1", "go_terms": "alpha-tubulin binding | 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11278976,11782313,12590651,12689593,14744859,16103226,16129829,16236794,18201571,18511905,19468300,19468302,22580824,22750944,25068414,25074804,25416956,26496610,32203420,32296183,33961781,35271311,41361016 | 10979956,15642749,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000104,https://reactome.org/content/detail/R-HSA-9013111,https://reactome.org/content/detail/R-HSA-9018806", "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/79955", "ncbi_id": "79955", "genesymbol": "PDZD7", "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": "http://purl.obolibrary.org/obo/go/references/0000107 | 19028668,20440071,36115835", "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/51816", "ncbi_id": "51816", "genesymbol": "ADA2", "go_terms": "proteoglycan binding | deaminase activity | heparin binding | protein homodimerization activity | adenosine receptor binding | zinc ion binding | metal ion binding | adenosine deaminase activity | growth factor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0043394 | http://purl.obolibrary.org/obo/GO_0019239 | http://purl.obolibrary.org/obo/GO_0008201 | http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0031685 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0046872 | http://purl.obolibrary.org/obo/GO_0004000 | http://purl.obolibrary.org/obo/GO_0008083", "go_pmid_ids": "20147294 | | | 20147294 | 20147294 | 20147294 | | 15926889,20147294,20453107,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000116 | 10756095", "nando": "http://nanbyodata.jp/ontology/NANDO_1200890", "nando_id": "NANDO:1200890", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "ダイアモンド・ブラックファン貧血", "nando_label_en": "Diamond-Blackfan anemia", "mondo_id": "MONDO:0015253", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/51816", "ncbi_id": "51816", "genesymbol": "ADA2", "go_terms": "proteoglycan binding | deaminase activity | heparin binding | protein homodimerization 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"genesymbol": "ECE1", "go_terms": "protein binding | metallopeptidase activity | metalloendopeptidase activity | peptide hormone binding | zinc ion binding | endopeptidase activity | protein homodimerization activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0008237 | http://purl.obolibrary.org/obo/GO_0004222 | http://purl.obolibrary.org/obo/GO_0017046 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_0004175 | http://purl.obolibrary.org/obo/GO_0042803", "go_pmid_ids": "25416956,32296183 | | 37835445,8062389,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000033,https://reactome.org/content/detail/R-HSA-8876868 | 7864876 | 18992253 | 18039931,7805846 | 7805846", "nando": "http://nanbyodata.jp/ontology/NANDO_1200903", "nando_id": "NANDO:1200903", "nando_category": "指定難病", "nando_category_en": "Designated 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"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 | acyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0003841 | http://purl.obolibrary.org/obo/GO_0016746", "go_pmid_ids": "15629135,19075029,21873652,9212163,9242711,9461603,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000116,https://reactome.org/content/detail/R-HSA-75885 | ", "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/200373", "ncbi_id": "200373", "genesymbol": "CFAP221", "go_terms": "calmodulin binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005516", "go_pmid_ids": "http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107", "nando": "http://nanbyodata.jp/ontology/NANDO_1201096", "nando_id": "NANDO:1201096", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "線毛機能不全症候群（カルタゲナー症候群を含む。）", "nando_label_en": "Primary ciliary dyskinesia (including Kartagener syndrome)", "mondo_id": "MONDO:0016575", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/24", "ncbi_id": "24", "genesymbol": "ABCA4", "go_terms": "ATP binding | 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24097981,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117 | https://reactome.org/content/detail/R-HSA-1467466,https://reactome.org/content/detail/R-HSA-2466802", "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": "identical protein binding | protein kinase binding | protein serine/threonine kinase binding | sequence-specific double-stranded DNA binding | transcription cis-regulatory region binding | DNA-binding transcription activator activity, RNA polymerase II-specific | 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12600985,25326418,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000113 | http://purl.obolibrary.org/obo/go/references/0000002 | 18836453,20237317,21903422,21988832,22995936,25159141,32433612 | http://purl.obolibrary.org/obo/go/references/0000033", "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/3845", "ncbi_id": "3845", "genesymbol": "KRAS", "go_terms": "protein-membrane adaptor activity | protein-containing complex binding | GTPase activity | GMP binding | GTP binding | G protein activity | protein binding | GDP binding | ATP binding | identical protein binding | 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http://purl.obolibrary.org/obo/go/references/0000003 | 10673434,12732644,15451670,20080631,20802526,23524970,24415755,25416956,25852190,28619714,30194290,31209342,31980649,32814053,35839996 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000104 | 26051715 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000003", "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/3931", "ncbi_id": "3931", "genesymbol": "LCAT", "go_terms": "sterol ester esterase activity | obsolete O-acyltransferase activity | 1-alkyl-2-acetylglycerophosphocholine esterase activity | A2-type glycerophospholipase activity | 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11441023,15696166,19820693,23770565,25609649,28348241,29636529,30102379,32814053,33961781,37261502 | 17296936,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000104,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117 | 20405910 | 32698189 | 9620804,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | 22658674 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107", "nando": 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15141091,http://purl.obolibrary.org/obo/go/references/0000033 | 19497856,http://purl.obolibrary.org/obo/go/references/0000002 | http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000113 | 15141091,16189514,19497856,20211142,21516116,23435380,25416956,25910212,26235987,27923061,28514442,32296183,33961781 | 19497856,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | 15141091,http://purl.obolibrary.org/obo/go/references/0000107 | 28473536 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | 15141091", "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:0018878", "nando2mondo_match": "closeMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6497", "ncbi_id": "6497", "genesymbol": "SKI", "go_terms": "identical protein binding | SMAD binding | DNA-binding transcription factor activity, RNA polymerase II-specific | protein kinase binding | protein domain specific binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | ubiquitin protein ligase binding | DNA-binding transcription factor binding | zinc ion binding | protein binding | histone deacetylase inhibitor activity | DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_ids": "http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0046332 | http://purl.obolibrary.org/obo/GO_0000981 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0019904 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0031625 | http://purl.obolibrary.org/obo/GO_0140297 | 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"http://nanbyodata.jp/ontology/NANDO_1200642", "nando_id": "NANDO:1200642", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "肥厚性皮膚骨膜症", "nando_label_en": "Pachydermoperiostosis", "mondo_id": "MONDO:0016620", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/6513", "ncbi_id": "6513", "genesymbol": "SLC2A1", "go_terms": "protein binding | dehydroascorbic acid transmembrane transporter activity | D-glucose transmembrane transporter activity | transmembrane transporter activity | xenobiotic transmembrane transporter activity | long-chain fatty acid transmembrane transporter activity | fucose transmembrane transporter activity | identical protein binding | kinase binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0033300 | http://purl.obolibrary.org/obo/GO_0055056 | http://purl.obolibrary.org/obo/GO_0022857 | http://purl.obolibrary.org/obo/GO_0042910 | 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http://purl.obolibrary.org/obo/GO_0015278 | http://purl.obolibrary.org/obo/GO_0005216 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0048763 | http://purl.obolibrary.org/obo/GO_0005516 | http://purl.obolibrary.org/obo/GO_0043924 | http://purl.obolibrary.org/obo/GO_0005216 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0019901 | http://purl.obolibrary.org/obo/GO_0019899 | http://purl.obolibrary.org/obo/GO_0005262", "go_pmid_ids": " | 12443530,12919952,17921453,19220289,27733687,33536282,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | 10830164 | 10830164 | http://purl.obolibrary.org/obo/go/references/0000024 | http://purl.obolibrary.org/obo/go/references/0000002 | 17921453,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | | 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http://purl.obolibrary.org/obo/go/references/0000107 | 10227690 | http://purl.obolibrary.org/obo/go/references/0000107 | 1429721 | http://purl.obolibrary.org/obo/go/references/0000107", "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 | dehydroascorbic acid transmembrane transporter activity | D-glucose transmembrane transporter activity | transmembrane transporter activity | xenobiotic transmembrane transporter activity | long-chain fatty acid transmembrane transporter activity | fucose transmembrane transporter activity | identical protein binding | kinase binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | 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22017874,27498865,31857589,34893540,36221902,http://purl.obolibrary.org/obo/go/references/0000107 | 27368102 | 28871090 | 8650207 | 28404643,29343546,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | 16169070,20562859,21900206,25416956,25686248,32296183,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117 | 26344566,27498865,30612879,31857589,32715615,34893540,36221902,37802024,http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | 29343546,29507397,31857589,37306101,37802024,http://purl.obolibrary.org/obo/go/references/0000107 | 37306101 | 8650207 | 8650207 | 25127057,27368102 | 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8541831,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000116 | | | http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107", "nando": "http://nanbyodata.jp/ontology/NANDO_2200501", "nando_id": "NANDO:2200501", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "グルタル酸血症1型", "nando_label_en": "Glutaric acidemia type 1", "mondo_id": "MONDO:0009281", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/2778", "ncbi_id": "2778", "genesymbol": "GNAS", "go_terms": "G protein activity | guanyl nucleotide binding | mu-type opioid receptor binding | metal ion binding | insulin-like growth factor receptor binding | GTPase activity | beta-2 adrenergic receptor binding | D1 dopamine receptor binding | G-protein 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| http://purl.obolibrary.org/obo/GO_0005272", "go_pmid_ids": " | 11244092,16423824,21775436,22493497 | http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033 | 22864553 | 22864553 | 10642508,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117 | 17502380,24124190,32729833", "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": "quaternary ammonium group transmembrane transporter activity | PDZ domain binding | protein binding | (R)-carnitine transmembrane transporter activity | amino-acid betaine transmembrane transporter activity | 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15650327,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033 | 15528998 | http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000116 | | ", "nando": "http://nanbyodata.jp/ontology/NANDO_2200598", "nando_id": "NANDO:2200598", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "GABAアミノ基転移酵素欠損症", "nando_label_en": "Gamma-amino butyrate aminotransferase deficiency", "mondo_id": "MONDO:0013166", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/1374", "ncbi_id": "1374", "genesymbol": "CPT1A", "go_terms": "carnitine O-palmitoyltransferase activity | identical protein binding | protein-macromolecule adaptor activity | acyltransferase activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004095 | 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https://reactome.org/content/detail/R-HSA-2130349,https://reactome.org/content/detail/R-HSA-2130706 | | | http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | 3927292,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000104,http://purl.obolibrary.org/obo/go/references/0000107", "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/138050", "ncbi_id": "138050", "genesymbol": "HGSNAT", "go_terms": "heparan-alpha-glucosaminide N-acetyltransferase activity | 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http://purl.obolibrary.org/obo/GO_0005525 | http://purl.obolibrary.org/obo/GO_0016746 | http://purl.obolibrary.org/obo/GO_0044877 | http://purl.obolibrary.org/obo/GO_0106310", "go_pmid_ids": "19041327,7749984 | http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000104 | 15771576 | 19041327 | 10938133,16600381,17493635,21890893,23007646 | http://purl.obolibrary.org/obo/go/references/0000003 | 9171108 | 19041327 | 19041327 | | | 17493635 | 24036077,http://purl.obolibrary.org/obo/go/references/0000116", "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 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10903890,25609649,http://purl.obolibrary.org/obo/go/references/0000107 | 10903890,16549780,17318191,17983804,19534813,21103407,21743491,21988832,25402006,25416956,25466284,25609649,25910212,26871637,28051067,28514442,29361949,29892012,31515488,32296183,32814053,33961781,35140242,36217029,37207277,40205054,9824680 | 8978694,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | | | http://purl.obolibrary.org/obo/go/references/0000002 | 28473536 | ", "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/23476", "ncbi_id": "23476", "genesymbol": "BRD4", "go_terms": "P-TEFb complex binding | histone H3K27ac reader activity | 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| 29379197 | 22509028 | 29379197 | 21555454 | 23086925 | 29379197", "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/64581", "ncbi_id": "64581", "genesymbol": "CLEC7A", "go_terms": "protein binding | pattern recognition receptor activity | MHC protein binding | identical protein binding | (1->3)-beta-D-glucan binding | carbohydrate binding | metal ion binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0038187 | http://purl.obolibrary.org/obo/GO_0042287 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0001872 | http://purl.obolibrary.org/obo/GO_0030246 | http://purl.obolibrary.org/obo/GO_0046872", "go_pmid_ids": "21516116,23674515,25416956,31515488,31875558,32296183 | 11567029,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000117 | 11567029 | 32296183 | 22267217,24721111,25251945,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000117 | 11567029 | ", "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": "enzyme binding | calcium ion binding | 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http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000107 | 11118617,9188725,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000116,http://purl.obolibrary.org/obo/go/references/0000117 | http://purl.obolibrary.org/obo/go/references/0000107 | 1322796 | 12821674,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000117 | | 12799190 | http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000116 | http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000107 | 25416956,36115835 | https://reactome.org/content/detail/R-HSA-114688", "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/23512", "ncbi_id": "23512", "genesymbol": "SUZ12", "go_terms": "protein binding | RNA binding | chromatin binding | enzyme activator activity | lncRNA binding | histone H3K9me2/3 reader activity | sequence-specific DNA binding | zinc ion binding | promoter-specific chromatin binding | transcription corepressor binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | chromatin DNA binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0008047 | http://purl.obolibrary.org/obo/GO_0106222 | http://purl.obolibrary.org/obo/GO_0062072 | http://purl.obolibrary.org/obo/GO_0043565 | http://purl.obolibrary.org/obo/GO_0008270 | http://purl.obolibrary.org/obo/GO_1990841 | http://purl.obolibrary.org/obo/GO_0001222 | http://purl.obolibrary.org/obo/GO_0000978 | http://purl.obolibrary.org/obo/GO_0031490", "go_pmid_ids": "17560333,19734898,20075857,20543829,21078963,22009739,22439931,23104054,23238014,23684459,24183680,24981860,26496610,27705803,27728805,28229514,29628311,29909548,30026490,30923826,33961781,34591612,35016035,37553330,40205054 | | | 15385962,28229514 | http://purl.obolibrary.org/obo/go/references/0000107 | 21029866 | | | http://purl.obolibrary.org/obo/go/references/0000107 | 29628311 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107", "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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https://reactome.org/content/detail/R-HSA-5693533 | 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/284111", "ncbi_id": "284111", "genesymbol": "SLC13A5", "go_terms": "sodium:dicarboxylate symporter activity | citrate transmembrane transporter activity | transmembrane transporter activity | tricarboxylic acid transmembrane transporter activity | identical protein binding | solute:sodium symporter activity | organic acid:sodium symporter activity | protein binding | succinate transmembrane transporter activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0017153 | http://purl.obolibrary.org/obo/GO_0015137 | http://purl.obolibrary.org/obo/GO_0022857 | 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10829012,25242331,31535977,8493557,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000033 | 8493557,8988018 | http://purl.obolibrary.org/obo/go/references/0000002 | 10829012 | 21994944,23333276,25416956,32296183 | 22998873", "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/6890", "ncbi_id": "6890", "genesymbol": "TAP1", "go_terms": "TAP1 binding | MHC protein binding | TAP2 binding | peptide transmembrane transporter activity | MHC class I protein binding | peptide antigen binding | metal ion binding | ABC-type peptide antigen transporter activity | ATP binding | ATP hydrolysis activity | protein binding | ABC-type 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| http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | 22658674 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | http://purl.obolibrary.org/obo/go/references/0000107", "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/4359", "ncbi_id": "4359", "genesymbol": "MPZ", "go_terms": "structural molecule activity | protein binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0005198 | 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| http://purl.obolibrary.org/obo/GO_0042803 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_1905576 | http://purl.obolibrary.org/obo/GO_1905574 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0008289", "go_pmid_ids": "1454804 | 1454804 | 14674747 | 23555801 | | 24872419 | 1454804 | 18462685 | 16713569,19570996,20709014,22431521,24872419,26370502,32296183,32814053,33961781 | 1454804 | 1454804 | 18462685,http://purl.obolibrary.org/obo/go/references/0000117 | ", "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/5745", "ncbi_id": "5745", "genesymbol": "PTH1R", "go_terms": "transmembrane signaling receptor 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http://purl.obolibrary.org/obo/go/references/0000107 | 12695505 | 16360038 | ", "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": "RNA binding | poly(U) RNA binding | chromatin binding | identical protein binding | protein binding | DNA binding | poly(G) binding | POZ domain binding", "go_ids": "http://purl.obolibrary.org/obo/GO_0003723 | http://purl.obolibrary.org/obo/GO_0008266 | http://purl.obolibrary.org/obo/GO_0003682 | http://purl.obolibrary.org/obo/GO_0042802 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0003677 | http://purl.obolibrary.org/obo/GO_0034046 | 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| http://purl.obolibrary.org/obo/GO_0001223", "go_pmid_ids": "19701182 | 19701182 | 23474713 | 11432839,16507993,17940095,18082603,19701182,20351177,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000107 | 11701125,12377759,12699629,15044100,15381700,17237767,17940095,18082603,18358808,19179534,19487455,19567472,19571879,19843693,21119197,21829167,21846770,22011238,22226966,24550003,25172512,25589350,28255170 | 21937513,http://purl.obolibrary.org/obo/go/references/0000002 | 11432839,23474713 | 21937513 | 21937513,25569094,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000003 | | 11927518,12135483,14991929,16043710,16507993,17940095,18082603,21531765,23474713,23784080,29695869,9398860,9443919,http://purl.obolibrary.org/obo/go/references/0000002,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117 | 9288757 | | 16507993,17940095,18082603,19701182,20351177,http://purl.obolibrary.org/obo/go/references/0000107 | 10197982,19751963 | 19571879,http://purl.obolibrary.org/obo/go/references/0000107", "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/7030", "ncbi_id": "7030", "genesymbol": "TFE3", "go_terms": "DNA-binding transcription factor activity, RNA polymerase II-specific | protein dimerization activity | protein binding | RNA polymerase II cis-regulatory region sequence-specific DNA binding | DNA binding | transcription cis-regulatory region binding | DNA-binding transcription activator activity, RNA polymerase II-specific | DNA-binding transcription factor activity | sequence-specific double-stranded DNA 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15510212,21781115,22778404,23889254,https://reactome.org/content/detail/R-HSA-428585,https://reactome.org/content/detail/R-HSA-5624239 | 10581036,http://purl.obolibrary.org/obo/go/references/0000107,http://purl.obolibrary.org/obo/go/references/0000117", "nando": "http://nanbyodata.jp/ontology/NANDO_1200148", "nando_id": "NANDO:1200148", "nando_category": "指定難病", "nando_category_en": "Designated intractable disease", "nando_label": "中間型遊離シアル酸蓄積症", "nando_label_en": "Intermediate severe Salla disease", "mondo_id": "MONDO:0017737", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/675", "ncbi_id": "675", "genesymbol": "BRCA2", "go_terms": "protein binding | identical protein binding | gamma-tubulin binding | double-stranded DNA binding | histone H3 acetyltransferase activity | histone acetyltransferase activity | single-stranded DNA binding | protein-macromolecule adaptor activity | histone H4 acetyltransferase activity | protease binding | DNA binding", 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12915445,16902405,19536138,21233288,21378754,22543976,25107275,25869668,26496610,26824392,27107012,28514442,29125462,30905672,32296183,33961781,35271311,40205054 | https://reactome.org/content/detail/R-HSA-1675836 | 12915445 | | 15474001,7761412,http://purl.obolibrary.org/obo/go/references/0000116,http://purl.obolibrary.org/obo/go/references/0000117,https://reactome.org/content/detail/R-HSA-1855174 | 1321346,25869668,http://purl.obolibrary.org/obo/go/references/0000002", "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/7098", "ncbi_id": "7098", "genesymbol": "TLR3", "go_terms": "protein binding | signaling receptor activity | ubiquitin-like protein ligase binding | double-stranded RNA binding | 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http://purl.obolibrary.org/obo/go/references/0000107 | 17332325,20804746,http://purl.obolibrary.org/obo/go/references/0000107", "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/9663", "ncbi_id": "9663", "genesymbol": "LPIN2", "go_terms": "phosphatidate phosphatase activity | transcription coactivator activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0008195 | http://purl.obolibrary.org/obo/GO_0003713", "go_pmid_ids": "18694939,http://purl.obolibrary.org/obo/go/references/0000003,http://purl.obolibrary.org/obo/go/references/0000024,http://purl.obolibrary.org/obo/go/references/0000033,http://purl.obolibrary.org/obo/go/references/0000116 | 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"nando_label_en": "IL10 deficiency", "mondo_id": "MONDO:0016542", "nando2mondo_match": "exactMatch" }, { "glycogene": "http://glycosmos.org/glycogene/3588", "ncbi_id": "3588", "genesymbol": "IL10RB", "go_terms": "interleukin-10 receptor activity | protein binding | coreceptor activity | signaling receptor activity", "go_ids": "http://purl.obolibrary.org/obo/GO_0004920 | http://purl.obolibrary.org/obo/GO_0005515 | http://purl.obolibrary.org/obo/GO_0015026 | http://purl.obolibrary.org/obo/GO_0038023", "go_pmid_ids": "10954742,http://purl.obolibrary.org/obo/go/references/0000033 | 12483210,12513909,15120653,16982608,20462497 | 16982608 | 8314576,http://purl.obolibrary.org/obo/go/references/0000117", "nando": "http://nanbyodata.jp/ontology/NANDO_2200446", "nando_id": "NANDO:2200446", "nando_category": "小児慢性特定疾病", "nando_category_en": "Specific pediatric chronic disease", "nando_label": "IL10欠損症", "nando_label_en": "IL10 deficiency", "mondo_id": "MONDO:0016542", "nando2mondo_match": "exactMatch" } ]