Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/231169/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI101", "attributes": { "scores": { "familial_evidence": 1, "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": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.108791" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI101/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI101/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "206" }, { "type": "SmallVariant", "id": "209" }, { "type": "SmallVariant", "id": "210" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI101/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI101/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "618" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI101/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI101/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI101/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI101/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "76" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI101/?format=api" } }, { "type": "Combination", "id": "OLI102", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.124277" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI102/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI102/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "211" }, { "type": "SmallVariant", "id": "212" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI102/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI102/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "618" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI102/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI102/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI102/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI102/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "77" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI102/?format=api" } }, { "type": "Combination", "id": "OLI103", "attributes": { "scores": { "familial_evidence": 2, "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": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.145165" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI103/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI103/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "213" }, { "type": "SmallVariant", "id": "214" }, { "type": "SmallVariant", "id": "215" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI103/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI103/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "618" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI103/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI103/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI103/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI103/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "78" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI103/?format=api" } }, { "type": "Combination", "id": "OLI104", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:39.159460" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI104/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI104/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "216" }, { "type": "SmallVariant", "id": "217" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI104/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI104/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "618" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI104/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI104/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI104/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI104/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "79" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI104/?format=api" } }, { "type": "Combination", "id": "OLI100", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-18T16:33:41.879433" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI100/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI100/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "207" }, { "type": "SmallVariant", "id": "208" }, { "type": "SmallVariant", "id": "1975" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI100/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI100/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "618" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI100/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI100/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI100/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI100/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "75" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI100/?format=api" } }, { "type": "Combination", "id": "OLI259", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 2, "final_metascore": 2 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:41.743576" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI259/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI259/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "503" }, { "type": "SmallVariant", "id": "504" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI259/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI259/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "681" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI259/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI259/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI259/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI259/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "168" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI259/?format=api" } }, { "type": "Combination", "id": "OLI260", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "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": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:41.758934" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI260/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI260/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "505" }, { "type": "SmallVariant", "id": "506" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI260/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI260/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "681" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI260/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI260/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI260/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI260/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "169" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI260/?format=api" } }, { "type": "Combination", "id": "OLI261", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:41.774574" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI261/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI261/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "507" }, { "type": "SmallVariant", "id": "508" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI261/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI261/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "681" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI261/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI261/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI261/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI261/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "75" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI261/?format=api" } }, { "type": "Combination", "id": "OLI262", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:41.789652" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI262/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI262/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "509" }, { "type": "SmallVariant", "id": "510" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI262/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI262/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "681" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI262/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI262/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI262/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI262/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "75" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI262/?format=api" } }, { "type": "Combination", "id": "OLI263", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "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": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:41.805274" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI263/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI263/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "511" }, { "type": "SmallVariant", "id": "512" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI263/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI263/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "681" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI263/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI263/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI263/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI263/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "79" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI263/?format=api" } }, { "type": "Combination", "id": "OLI265", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 2, "final_metascore": 2 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "True Digenic", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:41.848118" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI265/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI265/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "517" }, { "type": "SmallVariant", "id": "518" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI265/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI265/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "686" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI265/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI265/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI265/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI265/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "171" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI265/?format=api" } }, { "type": "Combination", "id": "OLI266", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:41.863578" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI266/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI266/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "519" }, { "type": "SmallVariant", "id": "520" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI266/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI266/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "686" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI266/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI266/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI266/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI266/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "171" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI266/?format=api" } }, { "type": "Combination", "id": "OLI267", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM276900", "OMIM606943", "OMIM276904", "OMIM601067", "OMIM612632", "OMIM602083", "OMIM614990", "OMIM618632", "OMIM614869", "OMIM602097" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "African", "lastmodified": "2021-11-16T17:59:41.878444" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "231169" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI267/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI267/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "517" }, { "type": "SmallVariant", "id": "521" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI267/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI267/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "686" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI267/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI267/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI267/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI267/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "171" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI267/?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": 13 } }