Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/references/878/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI940", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:10.576437" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI940/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI940/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2035" }, { "type": "SmallVariant", "id": "2036" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI940/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI940/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI940/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI940/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI940/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI940/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "699" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI940/?format=api" } }, { "type": "Combination", "id": "OLI941", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:10.668151" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI941/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI941/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "936" }, { "type": "SmallVariant", "id": "2037" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI941/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI941/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI941/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI941/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI941/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI941/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "700" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI941/?format=api" } }, { "type": "Combination", "id": "OLI942", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:10.759916" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI942/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI942/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "936" }, { "type": "SmallVariant", "id": "2038" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI942/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI942/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI942/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI942/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI942/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI942/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "701" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI942/?format=api" } }, { "type": "Combination", "id": "OLI943", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:10.884897" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI943/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI943/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2039" }, { "type": "SmallVariant", "id": "2040" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI943/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI943/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI943/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI943/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI943/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI943/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "702" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI943/?format=api" } }, { "type": "Combination", "id": "OLI944", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.068234" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI944/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI944/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2041" }, { "type": "SmallVariant", "id": "2042" }, { "type": "SmallVariant", "id": "2043" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI944/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI944/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI944/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI944/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI944/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI944/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "703" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI944/?format=api" } }, { "type": "Combination", "id": "OLI945", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.168327" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI945/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI945/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2044" }, { "type": "SmallVariant", "id": "539" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI945/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI945/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI945/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI945/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI945/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI945/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "180" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI945/?format=api" } }, { "type": "Combination", "id": "OLI946", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.293390" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI946/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI946/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2045" }, { "type": "SmallVariant", "id": "2046" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI946/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI946/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI946/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI946/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI946/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI946/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "704" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI946/?format=api" } }, { "type": "Combination", "id": "OLI947", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.418422" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI947/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI947/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2047" }, { "type": "SmallVariant", "id": "2048" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI947/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI947/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI947/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI947/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI947/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI947/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "705" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI947/?format=api" } }, { "type": "Combination", "id": "OLI948", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.560142" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI948/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI948/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2049" }, { "type": "SmallVariant", "id": "2050" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI948/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI948/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI948/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI948/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI948/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI948/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "706" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI948/?format=api" } }, { "type": "Combination", "id": "OLI949", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.685138" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI949/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI949/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2051" }, { "type": "SmallVariant", "id": "2052" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI949/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI949/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI949/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI949/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI949/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI949/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "707" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI949/?format=api" } }, { "type": "Combination", "id": "OLI950", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.818516" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI950/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI950/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2053" }, { "type": "SmallVariant", "id": "2054" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI950/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI950/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI950/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI950/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI950/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI950/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "456" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI950/?format=api" } }, { "type": "Combination", "id": "OLI951", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:11.943604" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI951/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI951/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2055" }, { "type": "SmallVariant", "id": "2056" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI951/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI951/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI951/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI951/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI951/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI951/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "708" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI951/?format=api" } }, { "type": "Combination", "id": "OLI952", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.068608" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI952/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI952/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2057" }, { "type": "SmallVariant", "id": "2058" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI952/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI952/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI952/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI952/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI952/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI952/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "709" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI952/?format=api" } }, { "type": "Combination", "id": "OLI953", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.193593" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI953/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI953/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2059" }, { "type": "SmallVariant", "id": "2060" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI953/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI953/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI953/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI953/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI953/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI953/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "710" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI953/?format=api" } }, { "type": "Combination", "id": "OLI954", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.318653" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI954/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI954/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2061" }, { "type": "SmallVariant", "id": "2062" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI954/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI954/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI954/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI954/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI954/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI954/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "711" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI954/?format=api" } }, { "type": "Combination", "id": "OLI955", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.460400" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI955/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI955/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "CopyNumberVariant", "id": "2063" }, { "type": "SmallVariant", "id": "2064" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI955/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI955/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI955/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI955/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI955/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI955/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "712" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI955/?format=api" } }, { "type": "Combination", "id": "OLI956", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.585418" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI956/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI956/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "CopyNumberVariant", "id": "2065" }, { "type": "SmallVariant", "id": "2066" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI956/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI956/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI956/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI956/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI956/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI956/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "713" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI956/?format=api" } }, { "type": "Combination", "id": "OLI957", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.710438" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI957/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI957/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "CopyNumberVariant", "id": "2067" }, { "type": "SmallVariant", "id": "2068" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI957/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI957/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI957/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI957/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI957/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI957/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "714" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI957/?format=api" } }, { "type": "Combination", "id": "OLI958", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:12.877124" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI958/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI958/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "CopyNumberVariant", "id": "2069" }, { "type": "SmallVariant", "id": "2070" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI958/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI958/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI958/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI958/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI958/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI958/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "715" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI958/?format=api" } }, { "type": "Combination", "id": "OLI959", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM613435", "OMIM608030", "OMIM616437", "OMIM612577", "OMIM300857", "OMIM616208", "OMIM614696", "OMIM611895", "OMIM612069", "OMIM608031", "OMIM614808", "OMIM615515", "OMIM617892", "OMIM613954", "OMIM615426", "OMIM205250", "OMIM606640", "OMIM608627", "OMIM606070", "OMIM105400", "OMIM617839" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:13.002162" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI959/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI959/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2071" }, { "type": "SmallVariant", "id": "2072" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI959/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI959/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "878" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI959/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI959/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI959/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI959/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "716" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI959/?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": 20 } }