Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/references/912/combinations/?format=api
https://olida.ibsquare.be/api/combinations/OLI085/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI085/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "170" }, { "type": "SmallVariant", "id": "172" }, { "type": "SmallVariant", "id": "173" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI085/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI085/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "712" }, { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI085/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI085/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI085/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI085/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "61" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI085/?format=api" } }, { "type": "Combination", "id": "OLI098", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-11-14T11:29:38.341526" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI098/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI098/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "201" }, { "type": "SmallVariant", "id": "202" }, { "type": "SmallVariant", "id": "203" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI098/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI098/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "708" }, { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI098/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI098/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI098/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI098/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "73" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI098/?format=api" } }, { "type": "Combination", "id": "OLI1116", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:36.313732" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1116/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1116/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "2409" }, { "type": "SmallVariant", "id": "258" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1116/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1116/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1116/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1116/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1116/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1116/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "44" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1116/?format=api" } }, { "type": "Combination", "id": "OLI1117", "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:36.547972" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1117/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1117/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2410" }, { "type": "SmallVariant", "id": "2411" }, { "type": "SmallVariant", "id": "2412" }, { "type": "SmallVariant", "id": "2413" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1117/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1117/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1117/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1117/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1117/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1117/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "44" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1117/?format=api" } }, { "type": "Combination", "id": "OLI1118", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:36.706402" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1118/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1118/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "181" }, { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "2414" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1118/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1118/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1118/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1118/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1118/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1118/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "64" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1118/?format=api" } }, { "type": "Combination", "id": "OLI1119", "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Pakistani", "lastmodified": "2022-08-04T14:15:36.798103" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1119/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1119/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "183" }, { "type": "SmallVariant", "id": "2415" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1119/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1119/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1119/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1119/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1119/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1119/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "64" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1119/?format=api" } }, { "type": "Combination", "id": "OLI1120", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:36.950349" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "80" }, { "type": "SmallVariant", "id": "2416" }, { "type": "SmallVariant", "id": "625" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1120/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1120/?format=api" } }, { "type": "Combination", "id": "OLI1121", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Native American", "lastmodified": "2022-08-04T14:15:37.148112" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1121/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1121/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2417" }, { "type": "SmallVariant", "id": "2418" }, { "type": "SmallVariant", "id": "2419" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1121/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1121/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1121/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1121/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1121/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1121/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "59" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1121/?format=api" } }, { "type": "Combination", "id": "OLI1122", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Arabic", "lastmodified": "2022-08-04T14:15:37.239823" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "255" }, { "type": "SmallVariant", "id": "2420" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1122/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "46" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1122/?format=api" } }, { "type": "Combination", "id": "OLI1123", "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Iraqi", "lastmodified": "2022-08-04T14:15:37.364849" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1123/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1123/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2421" }, { "type": "SmallVariant", "id": "2422" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1123/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1123/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1123/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1123/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1123/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1123/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "821" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1123/?format=api" } }, { "type": "Combination", "id": "OLI1124", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:37.481548" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1124/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1124/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2423" }, { "type": "SmallVariant", "id": "199" }, { "type": "SmallVariant", "id": "200" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1124/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1124/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1124/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1124/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1124/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1124/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "72" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1124/?format=api" } }, { "type": "Combination", "id": "OLI1125", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:37.656591" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1125/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1125/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2424" }, { "type": "SmallVariant", "id": "2425" }, { "type": "SmallVariant", "id": "2426" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1125/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1125/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1125/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1125/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1125/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1125/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "60" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1125/?format=api" } }, { "type": "Combination", "id": "OLI1127", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2022-08-04T14:15:37.948202" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1127/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1127/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2428" }, { "type": "SmallVariant", "id": "2429" }, { "type": "SmallVariant", "id": "159" }, { "type": "SmallVariant", "id": "160" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1127/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1127/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1127/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1127/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1127/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1127/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "57" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1127/?format=api" } }, { "type": "Combination", "id": "OLI1128", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 2, "functional_gene_evidence_manual_harmonized": 2, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Mixed", "lastmodified": "2022-08-04T14:15:38.115117" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1128/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1128/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "2430" }, { "type": "SmallVariant", "id": "154" }, { "type": "SmallVariant", "id": "155" }, { "type": "SmallVariant", "id": "2431" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1128/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1128/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1128/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1128/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1128/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1128/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "56" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1128/?format=api" } }, { "type": "Combination", "id": "OLI1129", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Egyptian", "lastmodified": "2022-08-04T14:15:38.298367" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2432" }, { "type": "SmallVariant", "id": "2433" }, { "type": "SmallVariant", "id": "163" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1129/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "58" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1129/?format=api" } }, { "type": "Combination", "id": "OLI1130", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Pakistani", "lastmodified": "2022-08-04T14:15:38.390046" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1130/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1130/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "174" }, { "type": "SmallVariant", "id": "2434" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1130/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1130/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1130/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1130/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1130/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1130/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "62" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1130/?format=api" } }, { "type": "Combination", "id": "OLI1131", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "African", "lastmodified": "2022-08-04T14:15:38.640051" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1131/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1131/diseases/?format=api" } }, "variant_set": { "meta": { "count": 5 }, "data": [ { "type": "SmallVariant", "id": "2435" }, { "type": "SmallVariant", "id": "2436" }, { "type": "SmallVariant", "id": "2437" }, { "type": "SmallVariant", "id": "2438" }, { "type": "SmallVariant", "id": "179" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1131/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1131/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1131/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1131/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1131/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1131/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "63" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1131/?format=api" } }, { "type": "Combination", "id": "OLI1132", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Native American", "lastmodified": "2022-08-04T14:15:38.740071" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1132/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1132/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2418" }, { "type": "SmallVariant", "id": "2417" }, { "type": "SmallVariant", "id": "2419" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1132/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1132/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1132/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1132/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1132/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1132/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "59" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1132/?format=api" } }, { "type": "Combination", "id": "OLI1133", "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2022-08-04T14:15:38.865155" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1133/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1133/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2439" }, { "type": "SmallVariant", "id": "2440" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1133/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1133/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1133/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1133/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1133/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1133/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "821" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1133/?format=api" } }, { "type": "Combination", "id": "OLI1134", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Indian", "lastmodified": "2022-08-04T14:15:38.990157" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1134/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1134/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2441" }, { "type": "SmallVariant", "id": "2442" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1134/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1134/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1134/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1134/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1134/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1134/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "822" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1134/?format=api" } }, { "type": "Combination", "id": "OLI084", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM203800", "OMIM236700", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T16:44:21.972874" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "110" }, { "type": "Disease", "id": "64" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI084/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI084/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "170" }, { "type": "SmallVariant", "id": "172" }, { "type": "SmallVariant", "id": "2427" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI084/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI084/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "712" }, { "type": "Reference", "id": "912" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI084/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI084/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI084/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI084/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "61" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI084/?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": 21 } }{ "data": [ { "type": "Combination", "id": "OLI085", "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": 0, "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": [ "OMIM600151", "OMIM615991", "OMIM615996", "OMIM615990", "OMIM615995", "OMIM615989", "OMIM615983", "OMIM615993", "OMIM615994", "OMIM615987", "OMIM617119", "OMIM209900", "OMIM615981", "OMIM605231", "OMIM615986", "OMIM617406", "OMIM615982", "OMIM615984", "OMIM615988", "OMIM615992", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:38.815123" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "