Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/references/958/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI1438", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 3, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:56.892232" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1438/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1438/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3026" }, { "type": "SmallVariant", "id": "3027" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1438/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1438/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1438/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1438/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1438/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1438/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "424" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1438/?format=api" } }, { "type": "Combination", "id": "OLI1439", "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": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:56.949366" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1439/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1439/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3028" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1439/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1439/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1439/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1439/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1439/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1439/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1010" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1439/?format=api" } }, { "type": "Combination", "id": "OLI1440", "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": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.006848" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1440/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1440/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3029" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1440/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1440/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1440/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1440/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1440/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1440/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1010" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1440/?format=api" } }, { "type": "Combination", "id": "OLI1441", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.064180" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1441/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1441/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3030" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1441/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1441/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1441/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1441/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1441/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1441/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "43" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1441/?format=api" } }, { "type": "Combination", "id": "OLI1442", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.121832" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1442/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1442/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3031" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1442/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1442/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1442/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1442/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1442/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1442/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1011" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1442/?format=api" } }, { "type": "Combination", "id": "OLI1443", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.179435" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1443/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1443/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3032" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1443/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1443/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1443/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1443/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1443/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1443/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1012" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1443/?format=api" } }, { "type": "Combination", "id": "OLI1444", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.268153" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1444/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1444/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3033" }, { "type": "SmallVariant", "id": "3034" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1444/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1444/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1444/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1444/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1444/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1444/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1013" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1444/?format=api" } }, { "type": "Combination", "id": "OLI1445", "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": 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": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.341184" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1445/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1445/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "3035" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1445/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1445/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1445/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1445/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1445/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1445/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1014" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1445/?format=api" } }, { "type": "Combination", "id": "OLI1446", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.428504" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1446/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1446/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3036" }, { "type": "SmallVariant", "id": "3037" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1446/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1446/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1446/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1446/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1446/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1446/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1015" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1446/?format=api" } }, { "type": "Combination", "id": "OLI1447", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.493075" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1447/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1447/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3036" }, { "type": "SmallVariant", "id": "3038" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1447/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1447/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1447/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1447/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1447/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1447/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1016" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1447/?format=api" } }, { "type": "Combination", "id": "OLI1448", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.558154" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1448/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1448/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3039" }, { "type": "SmallVariant", "id": "2426" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1448/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1448/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1448/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1448/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1448/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1448/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1017" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1448/?format=api" } }, { "type": "Combination", "id": "OLI1449", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.660946" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1449/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1449/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3040" }, { "type": "SmallVariant", "id": "3041" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1449/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1449/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1449/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1449/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1449/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1449/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1018" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1449/?format=api" } }, { "type": "Combination", "id": "OLI1450", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.743553" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1450/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1450/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3042" }, { "type": "SmallVariant", "id": "3043" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1450/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1450/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1450/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1450/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1450/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1450/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1019" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1450/?format=api" } }, { "type": "Combination", "id": "OLI1451", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:57.854339" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1451/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1451/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3044" }, { "type": "SmallVariant", "id": "3045" }, { "type": "SmallVariant", "id": "3046" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1451/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1451/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1451/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1451/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1451/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1451/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1020" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1451/?format=api" } }, { "type": "Combination", "id": "OLI1452", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:58.010869" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1452/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1452/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3047" }, { "type": "SmallVariant", "id": "3048" }, { "type": "SmallVariant", "id": "3049" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1452/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1452/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1452/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1452/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1452/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1452/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1021" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1452/?format=api" } }, { "type": "Combination", "id": "OLI1453", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:58.062067" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1453/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1453/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3050" }, { "type": "SmallVariant", "id": "3051" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1453/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1453/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1453/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1453/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1453/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1453/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1022" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1453/?format=api" } }, { "type": "Combination", "id": "OLI1454", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "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": 0, "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": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:58.113398" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1454/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1454/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3052" }, { "type": "SmallVariant", "id": "3053" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1454/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1454/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1454/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1454/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1454/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1454/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1023" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1454/?format=api" } }, { "type": "Combination", "id": "OLI1455", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:58.166173" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1455/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1455/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3054" }, { "type": "SmallVariant", "id": "3055" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1455/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1455/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1455/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1455/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1455/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1455/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1024" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1455/?format=api" } }, { "type": "Combination", "id": "OLI1456", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "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": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:02:58.219601" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1456/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1456/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3056" }, { "type": "SmallVariant", "id": "3057" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1456/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1456/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1456/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1456/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1456/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1456/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1025" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1456/?format=api" } }, { "type": "Combination", "id": "OLI1436", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T17:02:15.802520" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1436/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1436/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3023" }, { "type": "SmallVariant", "id": "172" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1436/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1436/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1436/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1436/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1436/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1436/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "45" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1436/?format=api" } }, { "type": "Combination", "id": "OLI1437", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T17:02:31.945351" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1437/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1437/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3024" }, { "type": "SmallVariant", "id": "3025" }, { "type": "SmallVariant", "id": "172" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1437/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1437/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1437/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1437/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1437/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1437/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "45" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1437/?format=api" } }, { "type": "Combination", "id": "OLI1435", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "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": 1, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM615981", "OMIM615982", "OMIM617119", "OMIM605231", "OMIM615996", "OMIM615995", "OMIM615992", "OMIM600151", "OMIM615990", "OMIM615985", "OMIM615987", "OMIM615993", "OMIM617406", "OMIM615989", "OMIM615984", "OMIM209900", "OMIM615983", "OMIM615988", "OMIM615991", "OMIM615994", "OMIM615986" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T17:01:43.748778" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1435/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1435/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3021" }, { "type": "SmallVariant", "id": "172" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1435/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1435/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "958" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1435/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1435/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1435/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1435/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "45" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1435/?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": 22 } }