Gene Instance
This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.
GET /api/genes/NR5A1/?format=api
{ "data": { "type": "Gene", "id": "NR5A1", "attributes": { "go_molecular_function": [ "['DNA binding', 'chromatin binding', 'zinc ion binding', 'enzyme binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'sequence-specific double-stranded DNA binding', 'nuclear receptor activity', 'protein binding', 'RNA polymerase II transcription regulatory region sequence-specific DNA binding', 'sequence-specific DNA binding', 'phospholipid binding', 'transcription coregulator binding', 'DNA-binding transcription factor activity, RNA polymerase II-specific']" ], "pathway_id": [ "kegg_path:hsa04927", "kegg_path:hsa04934", "kegg_path:hsa04927", "kegg_path:hsa04934", "R-HSA-1266738", "R-HSA-212436", "R-HSA-2990846", "R-HSA-3108232", "R-HSA-383280", "R-HSA-392499", "R-HSA-4090294", "R-HSA-452723", "R-HSA-597592", "R-HSA-73857", "R-HSA-74160", "R-HSA-9690406" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "Q13285", "ensembl_id": "None", "entrez_id": "ENSG00000136931", "chromosome_number": "9" }, "relationships": { "variant_set": { "meta": { "count": 19 }, "data": [ { "type": "SmallVariant", "id": "861" }, { "type": "SmallVariant", "id": "863" }, { "type": "SmallVariant", "id": "1197" }, { "type": "SmallVariant", "id": "1199" }, { "type": "SmallVariant", "id": "1206" }, { "type": "SmallVariant", "id": "1214" }, { "type": "SmallVariant", "id": "1442" }, { "type": "SmallVariant", "id": "1445" }, { "type": "SmallVariant", "id": "1697" }, { "type": "SmallVariant", "id": "2169" }, { "type": "SmallVariant", "id": "2269" }, { "type": "SmallVariant", "id": "2278" }, { "type": "SmallVariant", "id": "3160" }, { "type": "SmallVariant", "id": "3257" }, { "type": "SmallVariant", "id": "3272" }, { "type": "SmallVariant", "id": "3275" }, { "type": "SmallVariant", "id": "3411" }, { "type": "SmallVariant", "id": "3413" }, { "type": "SmallVariant", "id": "3667" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NR5A1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NR5A1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 18 }, "data": [ { "type": "GeneCombination", "id": "268" }, { "type": "GeneCombination", "id": "267" }, { "type": "GeneCombination", "id": "384" }, { "type": "GeneCombination", "id": "385" }, { "type": "GeneCombination", "id": "386" }, { "type": "GeneCombination", "id": "387" }, { "type": "GeneCombination", "id": "459" }, { "type": "GeneCombination", "id": "460" }, { "type": "GeneCombination", "id": "554" }, { "type": "GeneCombination", "id": "738" }, { "type": "GeneCombination", "id": "766" }, { "type": "GeneCombination", "id": "763" }, { "type": "GeneCombination", "id": "1055" }, { "type": "GeneCombination", "id": "1094" }, { "type": "GeneCombination", "id": "1101" }, { "type": "GeneCombination", "id": "1102" }, { "type": "GeneCombination", "id": "1144" }, { "type": "GeneCombination", "id": "1235" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NR5A1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NR5A1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/NR5A1/?format=api" } }, "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2024 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "lastmodified": "2021-10-18T11:00:44.221369", "status": "CU", "curator": null, "submitter": "cnachteg" } }