Gene List
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/genecombinations/725/genes/?format=api
{ "data": [ { "type": "Gene", "id": "APEX1", "attributes": { "go_molecular_function": [ "[\"3'-5' exonuclease activity\", 'transcription corepressor activity', 'chromatin DNA binding', 'DNA-(abasic site) binding', \"double-stranded DNA 3'-5' exodeoxyribonuclease activity\", 'RNA binding', 'RNA-DNA hybrid ribonuclease activity', 'phosphoric diester hydrolase activity', 'site-specific endodeoxyribonuclease activity, specific for altered base', 'DNA-(apurinic or apyrimidinic site) endonuclease activity', 'endonuclease activity', 'double-stranded DNA exodeoxyribonuclease activity', \"3'-5'-exodeoxyribonuclease activity\", 'protein-containing complex binding', \"phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands\", 'endodeoxyribonuclease activity', 'NF-kappaB binding', 'double-stranded telomeric DNA binding', 'metal ion binding', 'DNA binding', 'class II DNA-(apurinic or apyrimidinic site) endonuclease activity', 'oxidoreductase activity', 'uracil DNA N-glycosylase activity', 'damaged DNA binding', 'protein binding', 'transcription coactivator activity', 'phosphodiesterase I activity']" ], "pathway_id": [ "kegg_path:hsa03410", "R-HSA-110357", "R-HSA-110362", "R-HSA-110373", "R-HSA-110381", "R-HSA-5651801", "R-HSA-73884", "R-HSA-73894", "R-HSA-73930", "R-HSA-73933", "kegg_path:hsa03410" ], "essential_gene": "Essential", "status": "CU", "uniprot_acc": "P27695", "ensembl_id": "None", "entrez_id": "ENSG00000100823", "chromosome_number": "14", "lastmodified": "2022-08-04T14:14:59.361563" }, "relationships": { "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2095" }, { "type": "SmallVariant", "id": "3564" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/APEX1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/APEX1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 2 }, "data": [ { "type": "GeneCombination", "id": "725" }, { "type": "GeneCombination", "id": "1200" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/APEX1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/APEX1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/APEX1/?format=api" } }, { "type": "Gene", "id": "GRN", "attributes": { "go_molecular_function": [ "['growth factor activity', 'protein binding', 'RNA binding', 'cytokine activity', 'chaperone binding']" ], "pathway_id": [ "R-HSA-168249", "R-HSA-168256", "R-HSA-6798695" ], "essential_gene": "Non-essential", "status": "CU", "uniprot_acc": "P28799", "ensembl_id": "None", "entrez_id": "ENSG00000030582", "chromosome_number": "17", "lastmodified": "2021-10-18T11:00:44.551264" }, "relationships": { "variant_set": { "meta": { "count": 5 }, "data": [ { "type": "SmallVariant", "id": "1440" }, { "type": "SmallVariant", "id": "1815" }, { "type": "SmallVariant", "id": "2045" }, { "type": "SmallVariant", "id": "2087" }, { "type": "SmallVariant", "id": "3422" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/GRN/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/GRN/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 9 }, "data": [ { "type": "GeneCombination", "id": "457" }, { "type": "GeneCombination", "id": "601" }, { "type": "GeneCombination", "id": "704" }, { "type": "GeneCombination", "id": "726" }, { "type": "GeneCombination", "id": "725" }, { "type": "GeneCombination", "id": "724" }, { "type": "GeneCombination", "id": "723" }, { "type": "GeneCombination", "id": "722" }, { "type": "GeneCombination", "id": "1148" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/GRN/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/GRN/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/GRN/?format=api" } }, { "type": "Gene", "id": "NEK1", "attributes": { "go_molecular_function": [ "['protein tyrosine kinase activity', 'protein serine kinase activity', 'protein serine/threonine/tyrosine kinase activity', 'protein binding', 'protein kinase activity', 'protein serine/threonine kinase activity', '14-3-3 protein binding', 'metal ion binding', 'kinase activity', 'ATP binding']" ], "pathway_id": [], "essential_gene": "Essential", "status": "CU", "uniprot_acc": "Q96PY6", "ensembl_id": "None", "entrez_id": "ENSG00000137601", "chromosome_number": "4", "lastmodified": "2021-10-18T11:00:44.841783" }, "relationships": { "variant_set": { "meta": { "count": 22 }, "data": [ { "type": "SmallVariant", "id": "976" }, { "type": "SmallVariant", "id": "1369" }, { "type": "SmallVariant", "id": "1814" }, { "type": "SmallVariant", "id": "2052" }, { "type": "SmallVariant", "id": "2056" }, { "type": "SmallVariant", "id": "2062" }, { "type": "SmallVariant", "id": "2085" }, { "type": "SmallVariant", "id": "2096" }, { "type": "SmallVariant", "id": "2132" }, { "type": "SmallVariant", "id": "2138" }, { "type": "SmallVariant", "id": "2188" }, { "type": "SmallVariant", "id": "2190" }, { "type": "SmallVariant", "id": "2191" }, { "type": "SmallVariant", "id": "2193" }, { "type": "SmallVariant", "id": "2194" }, { "type": "SmallVariant", "id": "2196" }, { "type": "SmallVariant", "id": "2198" }, { "type": "SmallVariant", "id": "3352" }, { "type": "SmallVariant", "id": "3414" }, { "type": "SmallVariant", "id": "3425" }, { "type": "SmallVariant", "id": "3427" }, { "type": "SmallVariant", "id": "3430" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NEK1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NEK1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 18 }, "data": [ { "type": "GeneCombination", "id": "748" }, { "type": "GeneCombination", "id": "749" }, { "type": "GeneCombination", "id": "313" }, { "type": "GeneCombination", "id": "428" }, { "type": "GeneCombination", "id": "599" }, { "type": "GeneCombination", "id": "600" }, { "type": "GeneCombination", "id": "707" }, { "type": "GeneCombination", "id": "708" }, { "type": "GeneCombination", "id": "711" }, { "type": "GeneCombination", "id": "727" }, { "type": "GeneCombination", "id": "726" }, { "type": "GeneCombination", "id": "725" }, { "type": "GeneCombination", "id": "721" }, { "type": "GeneCombination", "id": "734" }, { "type": "GeneCombination", "id": "747" }, { "type": "GeneCombination", "id": "735" }, { "type": "GeneCombination", "id": "1128" }, { "type": "GeneCombination", "id": "1145" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/NEK1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/NEK1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/NEK1/?format=api" } }, { "type": "Gene", "id": "PFN1", "attributes": { "go_molecular_function": [ "actin monomer binding", "protein binding", "phosphotyrosine residue binding", "adenyl-nucleotide exchange factor activity", "RNA binding", "actin binding", "proline-rich region binding", "cadherin binding", "phosphatidylinositol-4,5-bisphosphate binding", "small GTPase binding" ], "pathway_id": [ "kegg_path:hsa05014", "R-HSA-195721", "R-HSA-162582", "kegg_path:hsa04810", "R-HSA-195258", "kegg_path:hsa05131", "R-HSA-376176", "kegg_path:hsa05132", "R-HSA-109582", "R-HSA-3858494", "kegg_path:hsa04015", "R-HSA-114608", "R-HSA-9675108", "R-HSA-422475", "R-HSA-194315", "R-HSA-1266738", "R-HSA-76005", "R-HSA-4086400", "R-HSA-5663220", "R-HSA-76002" ], "essential_gene": "Essential", "status": "CU", "uniprot_acc": "P07737", "ensembl_id": "ENSG00000108518", "entrez_id": "5216", "chromosome_number": "17", "lastmodified": "2022-08-04T14:14:58.485938" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "2093" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PFN1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 1 }, "data": [ { "type": "GeneCombination", "id": "725" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PFN1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/PFN1/?format=api" } }, { "type": "Gene", "id": "SOD1", "attributes": { "go_molecular_function": [ "['zinc ion binding', 'small GTPase binding', 'superoxide dismutase activity', 'protein binding', 'protein phosphatase 2B binding', 'copper ion binding', 'chaperone binding', 'identical protein binding']" ], "pathway_id": [ "kegg_path:hsa04146", "kegg_path:hsa04213", "kegg_path:hsa05014", "kegg_path:hsa05016", "kegg_path:hsa05020", "kegg_path:hsa05022", "R-HSA-109582", "R-HSA-114608", "R-HSA-1280215", "R-HSA-168256", "R-HSA-2262752", "R-HSA-3299685", "R-HSA-447115", "R-HSA-449147", "R-HSA-76002", "R-HSA-76005", "R-HSA-8950505", "R-HSA-8953897", "R-HSA-9020591" ], "essential_gene": "Non-essential", "status": "CU", "uniprot_acc": "P00441", "ensembl_id": "None", "entrez_id": "ENSG00000142168", "chromosome_number": "21", "lastmodified": "2021-10-18T11:00:44.427208" }, "relationships": { "variant_set": { "meta": { "count": 22 }, "data": [ { "type": "SmallVariant", "id": "1693" }, { "type": "SmallVariant", "id": "525" }, { "type": "SmallVariant", "id": "527" }, { "type": "SmallVariant", "id": "541" }, { "type": "SmallVariant", "id": "638" }, { "type": "SmallVariant", "id": "693" }, { "type": "SmallVariant", "id": "936" }, { "type": "SmallVariant", "id": "937" }, { "type": "SmallVariant", "id": "1379" }, { "type": "SmallVariant", "id": "1428" }, { "type": "SmallVariant", "id": "1709" }, { "type": "SmallVariant", "id": "2035" }, { "type": "SmallVariant", "id": "2039" }, { "type": "SmallVariant", "id": "2050" }, { "type": "SmallVariant", "id": "2189" }, { "type": "SmallVariant", "id": "3418" }, { "type": "SmallVariant", "id": "3426" }, { "type": "SmallVariant", "id": "3432" }, { "type": "SmallVariant", "id": "3446" }, { "type": "SmallVariant", "id": "3600" }, { "type": "SmallVariant", "id": "3603" }, { "type": "SmallVariant", "id": "3605" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/SOD1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/SOD1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 36 }, "data": [ { "type": "GeneCombination", "id": "173" }, { "type": "GeneCombination", "id": "174" }, { "type": "GeneCombination", "id": "184" }, { "type": "GeneCombination", "id": "216" }, { "type": "GeneCombination", "id": "217" }, { "type": "GeneCombination", "id": "218" }, { "type": "GeneCombination", "id": "219" }, { "type": "GeneCombination", "id": "220" }, { "type": "GeneCombination", "id": "221" }, { "type": "GeneCombination", "id": "222" }, { "type": "GeneCombination", "id": "223" }, { "type": "GeneCombination", "id": "297" }, { "type": "GeneCombination", "id": "298" }, { "type": "GeneCombination", "id": "434" }, { "type": "GeneCombination", "id": "451" }, { "type": "GeneCombination", "id": "552" }, { "type": "GeneCombination", "id": "559" }, { "type": "GeneCombination", "id": "561" }, { "type": "GeneCombination", "id": "562" }, { "type": "GeneCombination", "id": "699" }, { "type": "GeneCombination", "id": "700" }, { "type": "GeneCombination", "id": "701" }, { "type": "GeneCombination", "id": "702" }, { "type": "GeneCombination", "id": "706" }, { "type": "GeneCombination", "id": "727" }, { "type": "GeneCombination", "id": "726" }, { "type": "GeneCombination", "id": "725" }, { "type": "GeneCombination", "id": "724" }, { "type": "GeneCombination", "id": "723" }, { "type": "GeneCombination", "id": "722" }, { "type": "GeneCombination", "id": "721" }, { "type": "GeneCombination", "id": "747" }, { "type": "GeneCombination", "id": "1151" }, { "type": "GeneCombination", "id": "1154" }, { "type": "GeneCombination", "id": "1158" }, { "type": "GeneCombination", "id": "1212" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/SOD1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/SOD1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/SOD1/?format=api" } }, { "type": "Gene", "id": "TUBA4A", "attributes": { "go_molecular_function": [ "GTP binding", "protein kinase binding", "protein binding", "GTPase activity", "structural constituent of cytoskeleton" ], "pathway_id": [ "R-HSA-114608", "R-HSA-2500257", "R-HSA-3371497", "R-HSA-391251", "kegg_path:hsa05010", "kegg_path:hsa05020", "kegg_path:hsa04145", "kegg_path:hsa05012", "R-HSA-68877", "R-HSA-168256", "R-HSA-112314", "R-HSA-390466", "R-HSA-392499", "R-HSA-9609736", "R-HSA-8856688", "R-HSA-9675108", "R-HSA-422475", "R-HSA-112316", "R-HSA-1640170", "R-HSA-76005", "kegg_path:hsa05016", "kegg_path:hsa05014", "R-HSA-8854518", "R-HSA-597592", "R-HSA-5617833", "R-HSA-195258", "R-HSA-2467813", "R-HSA-1445148", "R-HSA-373760", "R-HSA-5653656", "R-HSA-2995410", "R-HSA-109582", "R-HSA-2565942", "R-HSA-9619483", "R-HSA-6807878", "R-HSA-5663220", "R-HSA-76002", "R-HSA-9668328", "R-HSA-442755", "R-HSA-5358351", "R-HSA-9646399", "R-HSA-199977", "R-HSA-380259", "R-HSA-389960", "R-HSA-389977", "R-HSA-1643685", "R-HSA-1280218", "R-HSA-438064", "R-HSA-68882", "R-HSA-1632852", "R-HSA-380284", "R-HSA-69275", "kegg_path:hsa05132", "R-HSA-190861", "R-HSA-199991", "R-HSA-2132295", "R-HSA-5663205", "R-HSA-1266738", "R-HSA-5620924", "R-HSA-9612973", "R-HSA-380270", "R-HSA-446203", "R-HSA-162582", "R-HSA-380287", "R-HSA-5610787", "R-HSA-5620912", "kegg_path:hsa04540", "R-HSA-983189", "R-HSA-389958", "R-HSA-8953897", "R-HSA-2262752", "R-HSA-389957", "kegg_path:hsa05022", "R-HSA-1852241", "R-HSA-437239", "R-HSA-190828", "R-HSA-983231", "R-HSA-6811442", "R-HSA-9648025", "R-HSA-157858", "R-HSA-948021", "R-HSA-2555396", "kegg_path:hsa04210", "kegg_path:hsa04530", "R-HSA-190840", "R-HSA-69278", "R-HSA-8852276", "R-HSA-6811436", "R-HSA-5626467", "R-HSA-68886", "R-HSA-194315", "R-HSA-6811434", "R-HSA-9609646", "kegg_path:hsa05130", "R-HSA-9663891", "R-HSA-8955332", "R-HSA-380320", "R-HSA-9609690", "R-HSA-112315", "R-HSA-453274", "R-HSA-190872" ], "essential_gene": null, "status": "CU", "uniprot_acc": "P68366", "ensembl_id": "ENSG00000127824", "entrez_id": "7277", "chromosome_number": "2", "lastmodified": "2022-08-04T14:14:59.078114" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "2090" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/TUBA4A/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/TUBA4A/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 2 }, "data": [ { "type": "GeneCombination", "id": "724" }, { "type": "GeneCombination", "id": "725" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/TUBA4A/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/TUBA4A/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/TUBA4A/?format=api" } }, { "type": "Gene", "id": "VAPB", "attributes": { "go_molecular_function": [ "protein homodimerization activity", "protein binding", "enzyme binding", "beta-tubulin binding", "protein heterodimerization activity", "microtubule binding", "cadherin binding", "FFAT motif binding" ], "pathway_id": [ "R-HSA-1430728", "kegg_path:hsa04979", "R-HSA-428157", "kegg_path:hsa04979", "R-HSA-556833", "kegg_path:hsa05022", "kegg_path:hsa05014", "kegg_path:hsa05014", "kegg_path:hsa05022", "R-HSA-1660661" ], "essential_gene": null, "status": "CU", "uniprot_acc": "O95292", "ensembl_id": "ENSG00000124164", "entrez_id": "9217", "chromosome_number": "20", "lastmodified": "2021-10-18T11:00:44.638178" }, "relationships": { "variant_set": { "meta": { "count": 7 }, "data": [ { "type": "SmallVariant", "id": "533" }, { "type": "SmallVariant", "id": "1819" }, { "type": "SmallVariant", "id": "2092" }, { "type": "SmallVariant", "id": "2094" }, { "type": "SmallVariant", "id": "2102" }, { "type": "SmallVariant", "id": "2103" }, { "type": "SmallVariant", "id": "2104" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/VAPB/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/VAPB/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 6 }, "data": [ { "type": "GeneCombination", "id": "178" }, { "type": "GeneCombination", "id": "183" }, { "type": "GeneCombination", "id": "603" }, { "type": "GeneCombination", "id": "724" }, { "type": "GeneCombination", "id": "725" }, { "type": "GeneCombination", "id": "727" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/VAPB/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/VAPB/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/VAPB/?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) 2025 · 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" ], "size": 7 } }