{ "disease_id": "DOID:0050524", "recommended_name": { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050524", "name": "maturity-onset diabetes of the young", "description": "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects." }, "synonyms": [ { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050524", "name": "MODY", "description": "" }, { "id": "DOID:0050524", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050524", "name": "Mason-type diabetes", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "maturity-onset diabetes of the young type 1", "description": "Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha." }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "HNF4A-associated monogenic diabetes", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "MODY, type I", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "MODY1", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "maturity onset diabetes of the Young, type 1", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "mild juvenile diabetes mellitus", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "MODY HNF4A related", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "diabetes mellitus MODY type 1", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "maturity-onset diabetes of the young, type 1", "description": "" }, { "id": "MONDO:0007452", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "name": "type 1 maturity-onset diabetes of the young", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young", "description": "MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes." }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "MODY", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity onset diabetes of the young", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "maturity-onset diabetes of the young (disease)", "description": "" }, { "id": "MONDO:0018911", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "name": "Mason type diabetes", "description": "" }, { "id": "MIM:125850", "resource": "MIM", "url": "https://www.omim.org/entry/125850", "name": "Maturity-onset diabetes of the young 1", "description": "Maturity-onset diabetes of the young 1" } ], "children": [ { "id": "DOID:0111099", "label": "maturity-onset diabetes of the young type 1", "link_status": true, "children": [] }, { "id": "DOID:0111100", "label": "maturity-onset diabetes of the young type 2", "link_status": true, "children": [] }, { "id": "DOID:0111102", "label": "maturity-onset diabetes of the young type 3", "link_status": true, "children": [] }, { "id": "DOID:0111103", "label": "maturity-onset diabetes of the young type 4", "link_status": true, "children": [] }, { "id": "DOID:0111104", "label": "maturity-onset diabetes of the young type 6", "link_status": true, "children": [] }, { "id": "DOID:0111105", "label": "maturity-onset diabetes of the young type 8", "link_status": true, "children": [] }, { "id": "DOID:0111106", "label": "maturity-onset diabetes of the young type 7", "link_status": true, "children": [] }, { "id": "DOID:0111107", "label": "maturity-onset diabetes of the young type 9", "link_status": true, "children": [] }, { "id": "DOID:0111108", "label": "maturity-onset diabetes of the young type 10", "link_status": true, "children": [] }, { "id": "DOID:0111109", "label": "maturity-onset diabetes of the young type 11", "link_status": true, "children": [] }, { "id": "DOID:0111110", "label": "maturity-onset diabetes of the young type 13", "link_status": true, "children": [] }, { "id": "DOID:0111111", "label": "maturity-onset diabetes of the young type 14", "link_status": true, "children": [] } ], "id_list": [ "DOID:0111100", "DOID:0050524", "DOID:0111107", "DOID:0111111", "DOID:0111105", "DOID:0111099", "DOID:0111106", "DOID:0111104", "DOID:0111108", "DOID:0111109", "DOID:0111103", "DOID:0111110", "DOID:0111102" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050524", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050524", "categories": [] }, { "id": "MONDO:0007452", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007452", "categories": [] }, { "id": "MONDO:0018911", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018911", "categories": [] }, { "id": "MIM:125850", "database": "MIM", "url": "https://www.omim.org/entry/125850", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M9PEX6-1", "uniprot_ac": "A0A8M9PEX6", "uniprot_id": "A0A8M9PEX6_DANRE", "refseq_ac": "XP_021325423", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Hepatocyte nuclear factor 4-alpha isoform X3", "type": "synonym" }, { "name": "hepatocyte nuclear factor 4-alpha isoform X3", "type": "synonym" } ], "gene_names": [ { "name": "hnf4a", "type": "recommended" }, { "name": "fb58h09", "type": "synonym" }, { "name": "hnf4a", "type": "synonym" }, { "name": "id:ibd1279", "type": "synonym" }, { "name": "sb:eu665", "type": "synonym" }, { "name": "wu:fb58h09", "type": "synonym" } ], "record_id": "A0A8M9PEX6-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "A3KMR8-1", "uniprot_ac": "A3KMR8", "uniprot_id": "MAFA_DANRE", "refseq_ac": "NP_001076409", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Transcription factor MafAa", "type": "recommended" }, { "name": "SMaf1", "type": "synonym" }, { "name": "Somite Maf1", "type": "synonym" }, { "name": "Transcription factor MafA", "type": "synonym" }, { "name": "somite Maf1", "type": "synonym" }, { "name": "transcription factor MafAa", "type": "synonym" }, { "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog Aa", "type": "synonym" }, { "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A", "type": "synonym" }, { "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein L", "type": "synonym" }, { "name": "v-maf musculoaponeurotic fibrosarcoma oncogene homolog A", "type": "synonym" } ], "gene_names": [ { "name": "mafaa", "type": "recommended" }, { "name": "SMaf1", "type": "synonym" }, { "name": "mafaa", "type": "synonym" }, { "name": "mafa", "type": "synonym" }, { "name": "mafl", "type": "synonym" } ], "record_id": "A3KMR8-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "A0AB32T7F9-1", "uniprot_ac": "A0AB32T7F9", "uniprot_id": "A0AB32T7F9_DANRE", "refseq_ac": "XP_068069331", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Insulin", "type": "recommended" }, { "name": "preproinsulin b isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "insb", "type": "recommended" }, { "name": "insb", "type": "synonym" } ], "record_id": "A0AB32T7F9-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "O73727-1", "uniprot_ac": "O73727", "uniprot_id": "INS_DANRE", "refseq_ac": "NP_571131", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Insulin", "type": "recommended" }, { "name": "insa", "type": "synonym" }, { "name": "insulin preproprotein", "type": "synonym" }, { "name": "insulin", "type": "synonym" } ], "gene_names": [ { "name": "ins", "type": "recommended" }, { "name": "ins", "type": "synonym" }, { "name": "zgc:109842", "type": "synonym" } ], "record_id": "O73727-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P01326-1", "uniprot_ac": "P01326", "uniprot_id": "INS2_MOUSE", "refseq_ac": "NP_001172012", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Insulin-2", "type": "recommended" }, { "name": "insulin-2 preproprotein", "type": "synonym" }, { "name": "insulin-2", "type": "synonym" }, { "name": "proinsulin", "type": "synonym" } ], "gene_names": [ { "name": "Ins2", "type": "recommended" }, { "name": "Ins-2", "type": "synonym" }, { "name": "Ins2", "type": "synonym" }, { "name": "InsII", "type": "synonym" }, { "name": "Mody4", "type": "synonym" }, { "name": "Mody", "type": "synonym" } ], "record_id": "P01326-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P52946-1", "uniprot_ac": "P52946", "uniprot_id": "PDX1_MOUSE", "refseq_ac": "NP_032840", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Pancreas/duodenum homeobox protein 1", "type": "recommended" }, { "name": "IDX-1", "type": "synonym" }, { "name": "IPF-1", "type": "synonym" }, { "name": "Insulin promoter factor 1", "type": "synonym" }, { "name": "Islet/duodenum homeobox 1", "type": "synonym" }, { "name": "STF-1", "type": "synonym" }, { "name": "Somatostatin-transactivating factor 1", "type": "synonym" }, { "name": "insulin promoter factor 1, homeodomain transcription factor", "type": "synonym" }, { "name": "islet/duodenum homeobox 1", "type": "synonym" }, { "name": "pancreas/duodenum homeobox protein 1", "type": "synonym" }, { "name": "pancreatic and duodenal homeobox gene 1", "type": "synonym" }, { "name": "somatostatin-transactivating factor 1", "type": "synonym" } ], "gene_names": [ { "name": "Pdx1", "type": "recommended" }, { "name": "IDX-1", "type": "synonym" }, { "name": "IPF-1", "type": "synonym" }, { "name": "Ipf1", "type": "synonym" }, { "name": "Mody4", "type": "synonym" }, { "name": "Pdx1", "type": "synonym" }, { "name": "STF-1", "type": "synonym" }, { "name": "pdx-1", "type": "synonym" } ], "record_id": "P52946-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "Q8CF90-1", "uniprot_ac": "Q8CF90", "uniprot_id": "MAFA_MOUSE", "refseq_ac": "NP_919331", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription factor MafA", "type": "recommended" }, { "name": "Mafa homolog", "type": "synonym" }, { "name": "Pancreatic beta-cell-specific transcriptional activator", "type": "synonym" }, { "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog A", "type": "synonym" }, { "name": "pancreatic beta-cell-specific transcriptional activator", "type": "synonym" }, { "name": "transcription factor MafA", "type": "synonym" }, { "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A", "type": "synonym" } ], "gene_names": [ { "name": "Mafa", "type": "recommended" }, { "name": "Mafa", "type": "synonym" }, { "name": "RIPE3b1", "type": "synonym" } ], "record_id": "Q8CF90-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P21981-1", "uniprot_ac": "P21981", "uniprot_id": "TGM2_MOUSE", "refseq_ac": "NP_033399", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein-glutamine gamma-glutamyltransferase 2", "type": "recommended" }, { "name": "2.3.1.-", "type": "synonym" }, { "name": "2.3.2.13", "type": "synonym" }, { "name": "3.4.-.-", "type": "synonym" }, { "name": "3.5.1.44", "type": "synonym" }, { "name": "C polypeptide", "type": "synonym" }, { "name": "Isopeptidase TGM2", "type": "synonym" }, { "name": "Protein-glutamine deamidase TGM2", "type": "synonym" }, { "name": "Protein-glutamine dopaminyltransferase TGM2", "type": "synonym" }, { "name": "Protein-glutamine histaminyltransferase TGM2", "type": "synonym" }, { "name": "Protein-glutamine noradrenalinyltransferase TGM2", "type": "synonym" }, { "name": "Protein-glutamine serotonyltransferase TGM2", "type": "synonym" }, { "name": "TG(C)", "type": "synonym" }, { "name": "TG2", "type": "synonym" }, { "name": "TGC", "type": "synonym" }, { "name": "TGase C", "type": "synonym" }, { "name": "TGase II", "type": "synonym" }, { "name": "TGase-2", "type": "synonym" }, { "name": "TGase2", "type": "synonym" }, { "name": "Tissue transglutaminase", "type": "synonym" }, { "name": "Transglutaminase II", "type": "synonym" }, { "name": "Transglutaminase-2", "type": "synonym" }, { "name": "isopeptidase TGM2", "type": "synonym" }, { "name": "protein-glutamine deamidase TGM2", "type": "synonym" }, { "name": "protein-glutamine dopaminyltransferase TGM2", "type": "synonym" }, { "name": "protein-glutamine gamma-glutamyltransferase 2", "type": "synonym" }, { "name": "protein-glutamine histaminyltransferase TGM2", "type": "synonym" }, { "name": "protein-glutamine noradrenalinyltransferase TGM2", "type": "synonym" }, { "name": "protein-glutamine serotonyltransferase TGM2", "type": "synonym" }, { "name": "protein-glutamine-gamma-glutamyltransferase", "type": "synonym" }, { "name": "tTG", "type": "synonym" }, { "name": "tissue transglutaminase", "type": "synonym" }, { "name": "transglutaminase C", "type": "synonym" }, { "name": "transglutaminase II", "type": "synonym" }, { "name": "transglutaminase-2", "type": "synonym" } ], "gene_names": [ { "name": "Tgm2", "type": "recommended" }, { "name": "G[a]h", "type": "synonym" }, { "name": "TG2", "type": "synonym" }, { "name": "TGase2", "type": "synonym" }, { "name": "Tgm2", "type": "synonym" }, { "name": "tTGas", "type": "synonym" }, { "name": "tTG", "type": "synonym" } ], "record_id": "P21981-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P22361-1", "uniprot_ac": "P22361", "uniprot_id": "HNF1A_MOUSE", "refseq_ac": "NP_033353", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hepatocyte nuclear factor 1-alpha", "type": "recommended" }, { "name": "HNF-1-alpha", "type": "synonym" }, { "name": "HNF-1A", "type": "synonym" }, { "name": "LFB1", "type": "synonym" }, { "name": "Liver-specific transcription factor LF-B1", "type": "synonym" }, { "name": "TCF-1", "type": "synonym" }, { "name": "Transcription factor 1", "type": "synonym" }, { "name": "hepatocyte nuclear factor 1-alpha", "type": "synonym" }, { "name": "liver-specific transcription factor LF-B1", "type": "synonym" }, { "name": "transcription factor 1", "type": "synonym" } ], "gene_names": [ { "name": "Hnf1a", "type": "recommended" }, { "name": "HNF1-alpha", "type": "synonym" }, { "name": "HNF1[a]", "type": "synonym" }, { "name": "HNF1", "type": "synonym" }, { "name": "Hnf-1a", "type": "synonym" }, { "name": "Hnf-1", "type": "synonym" }, { "name": "Hnf1alpha", "type": "synonym" }, { "name": "Hnf1a", "type": "synonym" }, { "name": "LFB1", "type": "synonym" }, { "name": "Tcf-1", "type": "synonym" }, { "name": "Tcf1", "type": "synonym" } ], "record_id": "P22361-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P49698-1", "uniprot_ac": "P49698", "uniprot_id": "HNF4A_MOUSE", "refseq_ac": "NP_032287", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hepatocyte nuclear factor 4-alpha", "type": "recommended" }, { "name": "HNF-4-alpha", "type": "synonym" }, { "name": "HNF4 alpha", "type": "synonym" }, { "name": "Nuclear receptor 2A1", "type": "synonym" }, { "name": "Nuclear receptor subfamily 2 group A member 1", "type": "synonym" }, { "name": "TCF-14", "type": "synonym" }, { "name": "Transcription factor 14", "type": "synonym" }, { "name": "Transcription factor HNF-4", "type": "synonym" }, { "name": "hepatocyte nuclear factor 4-alpha isoform HNF4alpha2", "type": "synonym" }, { "name": "hepatocyte nuclear factor 4-alpha", "type": "synonym" }, { "name": "nuclear receptor subfamily 2 group A member 1", "type": "synonym" }, { "name": "transcription factor 14", "type": "synonym" }, { "name": "transcription factor HNF-4", "type": "synonym" } ], "gene_names": [ { "name": "Hnf4a", "type": "recommended" }, { "name": "HNF-4", "type": "synonym" }, { "name": "Hnf-4", "type": "synonym" }, { "name": "Hnf4alpha", "type": "synonym" }, { "name": "Hnf4a", "type": "synonym" }, { "name": "Hnf4", "type": "synonym" }, { "name": "MODY1", "type": "synonym" }, { "name": "Nr2a1", "type": "synonym" }, { "name": "TCF-14", 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"name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene A", "type": "synonym" }, { "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A", "type": "synonym" }, { "name": "v-maf musculoaponeurotic fibrosarcoma oncogene family, protein A", "type": "synonym" }, { "name": "v-maf musculoaponeurotic fibrosarcoma oncogene homolog A", "type": "synonym" } ], "gene_names": [ { "name": "Mafa", "type": "recommended" }, { "name": "Mafa", "type": "synonym" }, { "name": "RGD1562627", "type": "synonym" } ], "record_id": "D3ZNT6-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P01323-1", "uniprot_ac": "P01323", "uniprot_id": "INS2_RAT", "refseq_ac": "NP_062003", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": 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"reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Phosphotransferase", "type": "recommended" }, { "name": "2.7.1.-", "type": "synonym" }, { "name": "CG3001-PA", "type": "synonym" }, { "name": "Hex-A-PA", "type": "synonym" }, { "name": "hexokinase A, isoform A", "type": "synonym" }, { "name": "hexokinase A", "type": "synonym" }, { "name": "hexokinase-A", "type": "synonym" }, { "name": "muscle-specific hexokinase", "type": "synonym" } ], "gene_names": [ { "name": "Hex-A", "type": "recommended" }, { "name": "B", "type": "synonym" }, { "name": "CG3001", "type": "synonym" }, { "name": "DM1", "type": "synonym" }, { "name": "Dmel\\CG3001", "type": "synonym" }, { "name": "Dmel_CG3001", "type": "synonym" }, { "name": "HEX-A", "type": "synonym" }, { "name": "HEX", "type": "synonym" }, { "name": "HK-A", "type": "synonym" }, { "name": "HK", "type": "synonym" }, { "name": "Hex-A:B", "type": "synonym" }, { "name": "Hex-A", "type": "synonym" }, { "name": "HexA", 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"Pancreas/duodenum homeobox protein 1", "type": "recommended" }, { "name": "GSF", "type": "synonym" }, { "name": "Glucose-sensitive factor", "type": "synonym" }, { "name": "IDX-1", "type": "synonym" }, { "name": "IPF-1", "type": "synonym" }, { "name": "IUF-1", "type": "synonym" }, { "name": "Insulin promoter factor 1", "type": "synonym" }, { "name": "Insulin upstream factor 1", "type": "synonym" }, { "name": "Islet/duodenum homeobox-1", "type": "synonym" }, { "name": "PDX-1", "type": "synonym" }, { "name": "STF-1", "type": "synonym" }, { "name": "Somatostatin-transactivating factor 1", "type": "synonym" }, { "name": "glucose-sensitive factor", "type": "synonym" }, { "name": "insulin promoter factor 1, homeodomain transcription factor", "type": "synonym" }, { "name": "insulin upstream factor 1", "type": "synonym" }, { "name": "islet/duodenum homeobox-1", "type": "synonym" }, { "name": "pancreas/duodenum homeobox protein 1", "type": "synonym" }, { "name": "pancreatic-duodenal homeobox factor 1", "type": "synonym" }, { "name": "somatostatin transcription factor 1", "type": "synonym" }, { "name": "somatostatin-transactivating factor 1", "type": "synonym" } ], "gene_names": [ { "name": "PDX1", "type": "recommended" }, { "name": "GSF", "type": "synonym" }, { "name": "IDX-1", "type": "synonym" }, { "name": "IPF1", "type": "synonym" }, { "name": "IUF1", "type": "synonym" }, { "name": "MODY4", "type": "synonym" }, { "name": "PAGEN1", "type": "synonym" }, { "name": "PDX-1", "type": "synonym" }, { "name": "PDX1", "type": "synonym" }, { "name": "STF-1", "type": "synonym" }, { "name": "STF1", "type": "synonym" } ], "record_id": "P52945-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P01308-1", "uniprot_ac": "P01308", "uniprot_id": "INS_HUMAN", "refseq_ac": "NP_000198", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Insulin", "type": "recommended" }, { "name": "insulin preproprotein", "type": "synonym" }, { "name": "preproinsulin", "type": "synonym" }, { "name": "proinsulin", "type": "synonym" } ], "gene_names": [ { "name": "INS", "type": "recommended" }, { "name": "IDDM1", "type": "synonym" }, { "name": "IDDM2", "type": "synonym" }, { "name": "IDDM", "type": "synonym" }, { "name": "ILPR", "type": "synonym" }, { "name": "INS", "type": "synonym" }, { "name": "IRDN", "type": "synonym" }, { "name": "MODY10", "type": "synonym" }, { "name": "PNDM4", "type": "synonym" } ], "record_id": "P01308-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] }, { "uniprot_canonical_ac": "P20823-1", "uniprot_ac": "P20823", "uniprot_id": "HNF1A_HUMAN", "refseq_ac": "NP_001293108", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Hepatocyte nuclear factor 1-alpha", "type": "recommended" }, { "name": "HNF-1-alpha", "type": "synonym" }, { "name": "HNF-1A", "type": "synonym" }, { "name": "LFB1", "type": "synonym" }, { "name": "Liver-specific transcription factor LF-B1", "type": "synonym" }, { "name": "TCF-1", "type": "synonym" }, { "name": "Transcription factor 1", "type": "synonym" }, { "name": "albumin proximal factor", "type": "synonym" }, { "name": "hepatic nuclear factor 1", "type": "synonym" }, { "name": "hepatocyte nuclear factor 1-alpha isoform 1", "type": "synonym" }, { "name": "hepatocyte nuclear factor 1-alpha", "type": "synonym" }, { "name": "interferon production regulator factor", "type": "synonym" }, { "name": "liver-specific transcription factor LF-B1", "type": "synonym" }, { "name": "transcription factor 1, hepatic", "type": "synonym" } ], "gene_names": [ { "name": "HNF1A", "type": "recommended" }, { "name": "HNF-1-alpha", "type": "synonym" }, { "name": "HNF-1A", "type": "synonym" }, { "name": "HNF1A", "type": "synonym" }, { "name": "HNF1alpha", "type": "synonym" }, { "name": "HNF1", "type": "synonym" }, { "name": "IDDM20", "type": "synonym" }, { "name": "LFB1", "type": "synonym" }, { "name": "MODY3", "type": "synonym" }, { "name": "TCF-1", "type": "synonym" }, { "name": "TCF1", "type": "synonym" } ], "record_id": "P20823-1", "evidence": [ { "id": "0050524", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050524" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050524" }