Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/diseases/432/combinations/?format=api
{ "data": [ { "type": "Combination", "id": "OLI132", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM125850", "OMIM615266", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:39.633168" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "552" }, { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI132/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI132/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "274" }, { "type": "SmallVariant", "id": "275" }, { "type": "SmallVariant", "id": "276" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI132/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI132/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "754" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI132/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI132/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI132/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI132/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "98" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI132/?format=api" } }, { "type": "Combination", "id": "OLI165", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.176394" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI165/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI165/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "330" }, { "type": "SmallVariant", "id": "331" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI165/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI165/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "637" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI165/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI165/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI165/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI165/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "116" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI165/?format=api" } }, { "type": "Combination", "id": "OLI195", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.685642" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "432" }, { "type": "Disease", "id": "238666" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "379" }, { "type": "SmallVariant", "id": "380" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/variants/?format=api" } }, "reference_set": { "meta": { "count": 3 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "780" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI195/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI195/?format=api" } }, { "type": "Combination", "id": "OLI196", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.701575" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI196/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI196/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "382" }, { "type": "SmallVariant", "id": "383" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI196/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI196/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "780" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI196/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI196/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI196/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI196/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "31" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI196/?format=api" } }, { "type": "Combination", "id": "OLI197", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 2, "final_metascore": 2 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.717528" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI197/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI197/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "384" }, { "type": "SmallVariant", "id": "385" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI197/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI197/variants/?format=api" } }, "reference_set": { "meta": { "count": 3 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "780" }, { "type": "Reference", "id": "848" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI197/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI197/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI197/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI197/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "131" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI197/?format=api" } }, { "type": "Combination", "id": "OLI198", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.732995" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI198/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI198/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "386" }, { "type": "SmallVariant", "id": "387" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI198/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI198/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "780" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI198/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI198/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI198/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI198/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI198/?format=api" } }, { "type": "Combination", "id": "OLI199", "attributes": { "scores": { "familial_evidence": 3, "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": 0, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 3, "final_metascore": 3 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:40.754917" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "432" }, { "type": "Disease", "id": "238666" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "387" }, { "type": "SmallVariant", "id": "388" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/variants/?format=api" } }, "reference_set": { "meta": { "count": 5 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "661" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "780" }, { "type": "Reference", "id": "848" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI199/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI199/?format=api" } }, { "type": "Combination", "id": "OLI201", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "functional_gene_evidence_manual_harmonized": 1, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 1, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Mexican", "lastmodified": "2021-11-16T17:59:40.786628" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI201/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI201/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "391" }, { "type": "SmallVariant", "id": "392" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI201/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI201/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "752" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI201/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI201/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI201/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI201/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "133" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI201/?format=api" } }, { "type": "Combination", "id": "OLI373", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.349707" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI373/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI373/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "382" }, { "type": "SmallVariant", "id": "383" }, { "type": "SmallVariant", "id": "816" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI373/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI373/variants/?format=api" } }, "reference_set": { "meta": { "count": 3 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "848" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI373/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI373/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI373/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI373/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "257" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI373/?format=api" } }, { "type": "Combination", "id": "OLI374", "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": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.369541" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI374/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI374/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "817" }, { "type": "SmallVariant", "id": "818" }, { "type": "SmallVariant", "id": "819" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI374/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI374/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "655" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI374/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI374/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI374/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI374/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "258" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI374/?format=api" } }, { "type": "Combination", "id": "OLI375", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.384165" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI375/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI375/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "403" }, { "type": "SmallVariant", "id": "820" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI375/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI375/variants/?format=api" } }, "reference_set": { "meta": { "count": 2 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "667" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI375/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI375/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI375/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI375/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "259" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI375/?format=api" } }, { "type": "Combination", "id": "OLI391", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.637421" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI391/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI391/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "848" }, { "type": "SmallVariant", "id": "849" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI391/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI391/variants/?format=api" } }, "reference_set": { "meta": { "count": 3 }, "data": [ { "type": "Reference", "id": "655" }, { "type": "Reference", "id": "667" }, { "type": "Reference", "id": "848" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI391/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI391/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI391/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI391/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "261" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI391/?format=api" } }, { "type": "Combination", "id": "OLI393", "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": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.668544" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI393/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI393/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "811" }, { "type": "SmallVariant", "id": "852" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI393/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI393/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "655" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI393/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI393/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI393/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI393/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "262" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI393/?format=api" } }, { "type": "Combination", "id": "OLI394", "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": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.683510" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI394/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI394/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "853" }, { "type": "SmallVariant", "id": "854" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI394/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI394/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "655" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI394/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI394/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI394/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI394/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "263" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI394/?format=api" } }, { "type": "Combination", "id": "OLI397", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 3, "functional_gene_evidence_manual_harmonized": 3, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 2, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 2, "functional_final_manual": 3, "functional_final_metascore": 3, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:44.732499" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI397/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI397/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "858" }, { "type": "SmallVariant", "id": "859" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI397/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI397/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "655" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI397/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI397/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI397/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI397/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "131" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI397/?format=api" } }, { "type": "Combination", "id": "OLI420", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.119414" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI420/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI420/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "899" }, { "type": "SmallVariant", "id": "900" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI420/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI420/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI420/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI420/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI420/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI420/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "279" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI420/?format=api" } }, { "type": "Combination", "id": "OLI421", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.135276" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI421/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI421/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "901" }, { "type": "SmallVariant", "id": "902" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI421/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI421/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI421/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI421/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI421/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI421/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "280" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI421/?format=api" } }, { "type": "Combination", "id": "OLI422", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.151166" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI422/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI422/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "903" }, { "type": "SmallVariant", "id": "904" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI422/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI422/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI422/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI422/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI422/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI422/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "281" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI422/?format=api" } }, { "type": "Combination", "id": "OLI423", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.172000" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI423/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI423/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "903" }, { "type": "SmallVariant", "id": "905" }, { "type": "SmallVariant", "id": "906" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI423/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI423/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI423/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI423/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI423/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI423/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "282" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI423/?format=api" } }, { "type": "Combination", "id": "OLI424", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.187866" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI424/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI424/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "907" }, { "type": "SmallVariant", "id": "908" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI424/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI424/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI424/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI424/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI424/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI424/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "283" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI424/?format=api" } }, { "type": "Combination", "id": "OLI425", "attributes": { "scores": { "familial_evidence": 2, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.203807" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI425/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI425/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "909" }, { "type": "SmallVariant", "id": "910" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI425/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI425/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI425/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI425/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI425/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI425/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "284" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI425/?format=api" } }, { "type": "Combination", "id": "OLI430", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:45.289317" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI430/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI430/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "816" }, { "type": "SmallVariant", "id": "920" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI430/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI430/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI430/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI430/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI430/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI430/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "289" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI430/?format=api" } }, { "type": "Combination", "id": "OLI498", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2021-11-16T17:59:46.472270" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI498/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI498/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "973" }, { "type": "SmallVariant", "id": "1057" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI498/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI498/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "667" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI498/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI498/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI498/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI498/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "90" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI498/?format=api" } }, { "type": "Combination", "id": "OLI555", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Dual Molecular Diagnosis", "status": "CU", "effect_predicted": false, "ethnicity": "Turkish", "lastmodified": "2021-11-16T17:59:47.430221" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI555/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI555/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1158" }, { "type": "SmallVariant", "id": "1159" }, { "type": "SmallVariant", "id": "1160" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI555/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI555/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "812" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI555/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI555/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI555/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI555/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "371" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI555/?format=api" } }, { "type": "Combination", "id": "OLI556", "attributes": { "scores": { "familial_evidence": 1, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Turkish", "lastmodified": "2021-11-16T17:59:47.446033" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI556/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI556/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1161" }, { "type": "SmallVariant", "id": "1162" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI556/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI556/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "812" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI556/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI556/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI556/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI556/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "372" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI556/?format=api" } }, { "type": "Combination", "id": "OLI689", "attributes": { "scores": { "familial_evidence": 1, "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": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Monogenic+Modifier", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:50.354179" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI689/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI689/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "402" }, { "type": "SmallVariant", "id": "1494" }, { "type": "SmallVariant", "id": "1495" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI689/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI689/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "803" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI689/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI689/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI689/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI689/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "478" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI689/?format=api" } }, { "type": "Combination", "id": "OLI780", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2021-11-16T17:59:52.280893" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI780/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI780/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1716" }, { "type": "SmallVariant", "id": "1717" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI780/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI780/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "835" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI780/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI780/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI780/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI780/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "563" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI780/?format=api" } }, { "type": "Combination", "id": "OLI816", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2021-11-16T17:59:52.939149" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI816/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI816/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1798" }, { "type": "SmallVariant", "id": "1799" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI816/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI816/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "847" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI816/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI816/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI816/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI816/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "596" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI816/?format=api" } }, { "type": "Combination", "id": "OLI837", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:53.294673" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI837/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI837/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1831" }, { "type": "SmallVariant", "id": "1832" }, { "type": "SmallVariant", "id": "1833" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI837/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI837/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "858" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI837/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI837/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI837/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI837/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "243" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI837/?format=api" } }, { "type": "Combination", "id": "OLI843", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:53.389586" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI843/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI843/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1844" }, { "type": "SmallVariant", "id": "1845" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI843/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI843/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "866" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI843/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI843/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI843/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI843/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "612" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI843/?format=api" } }, { "type": "Combination", "id": "OLI846", "attributes": { "scores": { "familial_evidence": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:53.441399" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI846/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI846/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1851" }, { "type": "SmallVariant", "id": "1852" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI846/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI846/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "866" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI846/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI846/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI846/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI846/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "615" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI846/?format=api" } }, { "type": "Combination", "id": "OLI848", "attributes": { "scores": { "familial_evidence": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:53.485908" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI848/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI848/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1854" }, { "type": "SmallVariant", "id": "1855" }, { "type": "SmallVariant", "id": "1856" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI848/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI848/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "866" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI848/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI848/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI848/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI848/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "616" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI848/?format=api" } }, { "type": "Combination", "id": "OLI851", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:53.543824" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI851/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI851/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "401" }, { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1862" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI851/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI851/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI851/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI851/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI851/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI851/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "619" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI851/?format=api" } }, { "type": "Combination", "id": "OLI889", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.272222" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI889/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI889/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1935" }, { "type": "SmallVariant", "id": "1938" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI889/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI889/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI889/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI889/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI889/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI889/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "655" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI889/?format=api" } }, { "type": "Combination", "id": "OLI890", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.288245" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI890/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI890/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1939" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI890/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI890/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI890/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI890/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI890/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI890/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "656" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI890/?format=api" } }, { "type": "Combination", "id": "OLI891", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.304251" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI891/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI891/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1880" }, { "type": "SmallVariant", "id": "1940" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI891/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI891/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI891/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI891/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI891/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI891/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "657" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI891/?format=api" } }, { "type": "Combination", "id": "OLI892", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 1, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.320232" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI892/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI892/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI892/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI892/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI892/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI892/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI892/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI892/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "629" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI892/?format=api" } }, { "type": "Combination", "id": "OLI893", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.336162" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI893/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI893/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1874" }, { "type": "SmallVariant", "id": "1941" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI893/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI893/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI893/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI893/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI893/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI893/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "658" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI893/?format=api" } }, { "type": "Combination", "id": "OLI894", "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": 1, "functional_gene_evidence_knowledge": 0, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.352038" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI894/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI894/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1942" }, { "type": "SmallVariant", "id": "1943" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI894/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI894/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI894/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI894/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI894/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI894/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "280" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI894/?format=api" } }, { "type": "Combination", "id": "OLI895", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.368387" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI895/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI895/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1944" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI895/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI895/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI895/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI895/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI895/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI895/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "136" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI895/?format=api" } }, { "type": "Combination", "id": "OLI896", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.384050" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI896/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI896/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "401" }, { "type": "SmallVariant", "id": "1945" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI896/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI896/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI896/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI896/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI896/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI896/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "659" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI896/?format=api" } }, { "type": "Combination", "id": "OLI897", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.399456" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI897/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI897/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1946" }, { "type": "SmallVariant", "id": "1947" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI897/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI897/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI897/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI897/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI897/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI897/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "660" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI897/?format=api" } }, { "type": "Combination", "id": "OLI898", "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": 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": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.415300" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI898/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI898/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1882" }, { "type": "SmallVariant", "id": "1948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI898/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI898/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI898/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI898/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI898/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI898/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "661" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI898/?format=api" } }, { "type": "Combination", "id": "OLI899", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.431185" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI899/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI899/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1949" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI899/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI899/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI899/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI899/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI899/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI899/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "662" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI899/?format=api" } }, { "type": "Combination", "id": "OLI900", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.458041" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI900/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI900/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "1906" }, { "type": "SmallVariant", "id": "1950" }, { "type": "SmallVariant", "id": "1951" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI900/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI900/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI900/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI900/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI900/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI900/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "663" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI900/?format=api" } }, { "type": "Combination", "id": "OLI901", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.480106" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI901/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI901/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1874" }, { "type": "SmallVariant", "id": "1903" }, { "type": "SmallVariant", "id": "1906" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI901/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI901/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI901/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI901/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI901/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI901/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "664" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI901/?format=api" } }, { "type": "Combination", "id": "OLI902", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.501826" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI902/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI902/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "401" }, { "type": "SmallVariant", "id": "1952" }, { "type": "SmallVariant", "id": "1953" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI902/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI902/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI902/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI902/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI902/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI902/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "665" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI902/?format=api" } }, { "type": "Combination", "id": "OLI903", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.517856" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI903/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI903/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1908" }, { "type": "SmallVariant", "id": "1954" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI903/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI903/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI903/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI903/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI903/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI903/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "666" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI903/?format=api" } }, { "type": "Combination", "id": "OLI904", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.533807" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI904/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI904/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1885" }, { "type": "SmallVariant", "id": "1955" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI904/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI904/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI904/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI904/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI904/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI904/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "667" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI904/?format=api" } }, { "type": "Combination", "id": "OLI905", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.554513" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI905/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI905/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1891" }, { "type": "SmallVariant", "id": "1896" }, { "type": "SmallVariant", "id": "1906" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI905/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI905/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI905/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI905/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI905/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI905/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "668" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI905/?format=api" } }, { "type": "Combination", "id": "OLI906", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.582987" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI906/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI906/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1956" }, { "type": "SmallVariant", "id": "1957" }, { "type": "SmallVariant", "id": "1958" }, { "type": "SmallVariant", "id": "1959" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI906/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI906/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI906/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI906/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI906/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI906/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "669" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI906/?format=api" } }, { "type": "Combination", "id": "OLI907", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.610978" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI907/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI907/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1871" }, { "type": "SmallVariant", "id": "1896" }, { "type": "SmallVariant", "id": "1960" }, { "type": "SmallVariant", "id": "1961" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI907/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI907/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI907/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI907/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI907/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI907/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "670" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI907/?format=api" } }, { "type": "Combination", "id": "OLI908", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.631962" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI908/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI908/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1879" }, { "type": "SmallVariant", "id": "1885" }, { "type": "SmallVariant", "id": "1962" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI908/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI908/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI908/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI908/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI908/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI908/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "671" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI908/?format=api" } }, { "type": "Combination", "id": "OLI909", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.653093" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI909/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI909/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1941" }, { "type": "SmallVariant", "id": "1963" }, { "type": "SmallVariant", "id": "1964" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI909/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI909/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI909/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI909/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI909/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI909/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "672" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI909/?format=api" } }, { "type": "Combination", "id": "OLI910", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.668123" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI910/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI910/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1965" }, { "type": "SmallVariant", "id": "1966" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI910/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI910/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI910/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI910/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI910/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI910/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "673" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI910/?format=api" } }, { "type": "Combination", "id": "OLI911", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 2, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 2, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 1, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.684041" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI911/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI911/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1880" }, { "type": "SmallVariant", "id": "1967" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI911/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI911/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI911/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI911/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI911/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI911/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "674" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI911/?format=api" } }, { "type": "Combination", "id": "OLI912", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.699999" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI912/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI912/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1968" }, { "type": "SmallVariant", "id": "1969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI912/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI912/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI912/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI912/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI912/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI912/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "675" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI912/?format=api" } }, { "type": "Combination", "id": "OLI913", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.722084" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI913/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI913/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1877" }, { "type": "SmallVariant", "id": "1909" }, { "type": "SmallVariant", "id": "1970" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI913/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI913/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI913/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI913/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI913/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI913/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "676" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI913/?format=api" } }, { "type": "Combination", "id": "OLI914", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.744116" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI914/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI914/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1939" }, { "type": "SmallVariant", "id": "1971" }, { "type": "SmallVariant", "id": "1972" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI914/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI914/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI914/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI914/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI914/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI914/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "677" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI914/?format=api" } }, { "type": "Combination", "id": "OLI915", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2021-11-16T17:59:54.759320" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI915/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI915/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1973" }, { "type": "SmallVariant", "id": "1974" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI915/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI915/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "868" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI915/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI915/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI915/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI915/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "678" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI915/?format=api" } }, { "type": "Combination", "id": "OLI1016", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "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": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 2, "functional_final_metascore": 2, "final_manual": 1, "final_metascore": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:21.921923" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1016/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1016/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2202" }, { "type": "SmallVariant", "id": "1826" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1016/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1016/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "896" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1016/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1016/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1016/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1016/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "90" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1016/?format=api" } }, { "type": "Combination", "id": "OLI1112", "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": 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": [ "OMIM614897", "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM615267", "OMIM244200", "OMIM615271", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM616030", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM618841", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2022-08-04T14:15:35.813597" }, "relationships": { "diseases": { "meta": { "count": 2 }, "data": [ { "type": "Disease", "id": "432" }, { "type": "Disease", "id": "138" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1112/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1112/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1954" }, { "type": "SmallVariant", "id": "2402" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1112/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1112/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "911" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1112/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1112/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1112/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1112/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "661" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1112/?format=api" } }, { "type": "Combination", "id": "OLI1214", "attributes": { "scores": { "familial_evidence": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Tunisian", "lastmodified": "2022-08-04T14:15:48.964061" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1214/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1214/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2579" }, { "type": "SmallVariant", "id": "2580" }, { "type": "SmallVariant", "id": "2581" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1214/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1214/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "924" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1214/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1214/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1214/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1214/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "859" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1214/?format=api" } }, { "type": "Combination", "id": "OLI1260", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.254123" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1260/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1260/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2659" }, { "type": "SmallVariant", "id": "2660" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1260/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1260/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1260/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1260/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1260/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1260/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "885" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1260/?format=api" } }, { "type": "Combination", "id": "OLI1261", "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": 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": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.311283" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1261/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1261/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2661" }, { "type": "SmallVariant", "id": "2662" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1261/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1261/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1261/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1261/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1261/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1261/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "606" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1261/?format=api" } }, { "type": "Combination", "id": "OLI1262", "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": 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": 1 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.358200" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1262/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1262/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2662" }, { "type": "SmallVariant", "id": "2663" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1262/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1262/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1262/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1262/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1262/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1262/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "189" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1262/?format=api" } }, { "type": "Combination", "id": "OLI1263", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.416817" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1263/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1263/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2664" }, { "type": "SmallVariant", "id": "2665" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1263/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1263/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1263/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1263/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1263/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1263/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "886" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1263/?format=api" } }, { "type": "Combination", "id": "OLI1264", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.473549" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1264/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1264/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2666" }, { "type": "SmallVariant", "id": "2667" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1264/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1264/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1264/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1264/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1264/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1264/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "887" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1264/?format=api" } }, { "type": "Combination", "id": "OLI1265", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.531951" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1265/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1265/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2668" }, { "type": "SmallVariant", "id": "2669" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1265/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1265/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1265/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1265/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1265/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1265/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "888" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1265/?format=api" } }, { "type": "Combination", "id": "OLI1266", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 1, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 1, "functional_gene_evidence_metascore": 1, "functional_variant_evidence_manual": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.590484" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1266/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1266/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2670" }, { "type": "SmallVariant", "id": "2671" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1266/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1266/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1266/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1266/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1266/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1266/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "889" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1266/?format=api" } }, { "type": "Combination", "id": "OLI1267", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.648926" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1267/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1267/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2672" }, { "type": "SmallVariant", "id": "2673" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1267/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1267/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1267/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1267/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1267/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1267/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "890" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1267/?format=api" } }, { "type": "Combination", "id": "OLI1268", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:43.734818" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1268/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1268/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2674" }, { "type": "SmallVariant", "id": "2675" }, { "type": "SmallVariant", "id": "2676" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1268/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1268/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1268/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1268/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1268/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1268/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "891" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1268/?format=api" } }, { "type": "Combination", "id": "OLI1273", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.062897" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1273/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1273/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2684" }, { "type": "SmallVariant", "id": "2685" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1273/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1273/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1273/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1273/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1273/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1273/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1273/?format=api" } }, { "type": "Combination", "id": "OLI1274", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.156300" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1274/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1274/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2686" }, { "type": "SmallVariant", "id": "2687" }, { "type": "SmallVariant", "id": "2688" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1274/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1274/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1274/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1274/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1274/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1274/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "893" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1274/?format=api" } }, { "type": "Combination", "id": "OLI1275", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.240944" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2689" }, { "type": "SmallVariant", "id": "2690" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1275/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "894" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1275/?format=api" } }, { "type": "Combination", "id": "OLI1276", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.298302" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1276/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1276/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2691" }, { "type": "SmallVariant", "id": "2661" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1276/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1276/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1276/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1276/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1276/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1276/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "606" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1276/?format=api" } }, { "type": "Combination", "id": "OLI1277", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.352866" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2692" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1277/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "895" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1277/?format=api" } }, { "type": "Combination", "id": "OLI1278", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.423581" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1278/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1278/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2691" }, { "type": "SmallVariant", "id": "2693" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1278/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1278/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1278/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1278/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1278/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1278/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "896" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1278/?format=api" } }, { "type": "Combination", "id": "OLI1279", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.493103" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1279/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1279/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2694" }, { "type": "SmallVariant", "id": "2695" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1279/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1279/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1279/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1279/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1279/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1279/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "897" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1279/?format=api" } }, { "type": "Combination", "id": "OLI1280", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.588174" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1280/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1280/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2696" }, { "type": "SmallVariant", "id": "2697" }, { "type": "SmallVariant", "id": "2698" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1280/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1280/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1280/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1280/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1280/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1280/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "898" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1280/?format=api" } }, { "type": "Combination", "id": "OLI1281", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.657742" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1281/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1281/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2699" }, { "type": "SmallVariant", "id": "2700" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1281/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1281/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1281/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1281/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1281/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1281/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "136" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1281/?format=api" } }, { "type": "Combination", "id": "OLI1282", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.728965" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1282/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1282/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2701" }, { "type": "SmallVariant", "id": "2702" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1282/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1282/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1282/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1282/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1282/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1282/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "899" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1282/?format=api" } }, { "type": "Combination", "id": "OLI1283", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.799945" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1283/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1283/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2703" }, { "type": "SmallVariant", "id": "2704" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1283/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1283/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1283/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1283/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1283/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1283/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "899" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1283/?format=api" } }, { "type": "Combination", "id": "OLI1284", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:44.872818" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1284/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1284/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2705" }, { "type": "SmallVariant", "id": "2706" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1284/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1284/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1284/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1284/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1284/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1284/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "888" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1284/?format=api" } }, { "type": "Combination", "id": "OLI1300", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "Unknown", "lastmodified": "2023-05-16T12:02:45.788390" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "381" }, { "type": "SmallVariant", "id": "2730" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "937" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1300/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "909" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1300/?format=api" } }, { "type": "Combination", "id": "OLI1337", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:49.049708" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1337/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1337/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1826" }, { "type": "SmallVariant", "id": "2822" }, { "type": "SmallVariant", "id": "2823" }, { "type": "SmallVariant", "id": "2824" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1337/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1337/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1337/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1337/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1337/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1337/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "941" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1337/?format=api" } }, { "type": "Combination", "id": "OLI1349", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:49.924775" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1349/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1349/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2844" }, { "type": "SmallVariant", "id": "2845" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1349/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1349/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1349/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1349/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1349/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1349/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "946" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1349/?format=api" } }, { "type": "Combination", "id": "OLI1350", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:49.993802" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1350/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1350/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2846" }, { "type": "SmallVariant", "id": "2847" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1350/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1350/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1350/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1350/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1350/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1350/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "279" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1350/?format=api" } }, { "type": "Combination", "id": "OLI1351", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 0, "functional_variant_evidence_manual": 0, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.046708" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1351/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1351/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "1857" }, { "type": "SmallVariant", "id": "2404" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1351/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1351/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1351/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1351/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1351/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1351/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "947" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1351/?format=api" } }, { "type": "Combination", "id": "OLI1352", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.126767" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1352/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1352/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2848" }, { "type": "SmallVariant", "id": "2849" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1352/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1352/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1352/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1352/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1352/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1352/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "948" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1352/?format=api" } }, { "type": "Combination", "id": "OLI1353", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.172363" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1353/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1353/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2845" }, { "type": "SmallVariant", "id": "1968" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1353/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1353/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1353/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1353/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1353/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1353/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "949" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1353/?format=api" } }, { "type": "Combination", "id": "OLI1354", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.230217" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1354/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1354/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2839" }, { "type": "SmallVariant", "id": "2850" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1354/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1354/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1354/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1354/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1354/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1354/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "263" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1354/?format=api" } }, { "type": "Combination", "id": "OLI1355", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.301418" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1355/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1355/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2851" }, { "type": "SmallVariant", "id": "2852" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1355/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1355/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1355/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1355/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1355/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1355/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "950" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1355/?format=api" } }, { "type": "Combination", "id": "OLI1356", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.387879" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1356/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1356/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "2853" }, { "type": "SmallVariant", "id": "2854" }, { "type": "SmallVariant", "id": "1826" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1356/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1356/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1356/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1356/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1356/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1356/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "31" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1356/?format=api" } }, { "type": "Combination", "id": "OLI1357", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "East Asian", "lastmodified": "2023-05-16T12:02:50.462197" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1357/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1357/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2855" }, { "type": "SmallVariant", "id": "2856" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1357/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1357/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "948" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1357/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1357/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1357/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1357/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "820" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1357/?format=api" } }, { "type": "Combination", "id": "OLI1590", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.241324" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1590/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1590/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "387" }, { "type": "SmallVariant", "id": "3358" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1590/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1590/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1590/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1590/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1590/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1590/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "850" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1590/?format=api" } }, { "type": "Combination", "id": "OLI1595", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.504492" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1595/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1595/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3364" }, { "type": "SmallVariant", "id": "3365" }, { "type": "SmallVariant", "id": "3366" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1595/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1595/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1595/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1595/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1595/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1595/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "848" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1595/?format=api" } }, { "type": "Combination", "id": "OLI1596", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.558628" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1596/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1596/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3367" }, { "type": "SmallVariant", "id": "3368" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1596/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1596/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1596/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1596/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1596/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1596/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "887" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1596/?format=api" } }, { "type": "Combination", "id": "OLI1597", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.657668" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1597/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1597/diseases/?format=api" } }, "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "3369" }, { "type": "SmallVariant", "id": "3370" }, { "type": "SmallVariant", "id": "2713" }, { "type": "SmallVariant", "id": "3371" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1597/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1597/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1597/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1597/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1597/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1597/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1130" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1597/?format=api" } }, { "type": "Combination", "id": "OLI1600", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 1, "statistical_evidence_knowledge": 1, "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.820562" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1600/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1600/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2670" }, { "type": "SmallVariant", "id": "3376" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1600/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1600/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1600/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1600/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1600/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1600/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "944" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1600/?format=api" } }, { "type": "Combination", "id": "OLI1601", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.878676" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1601/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1601/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3377" }, { "type": "SmallVariant", "id": "3378" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1601/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1601/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1601/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1601/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1601/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1601/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "678" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1601/?format=api" } }, { "type": "Combination", "id": "OLI1602", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:09.927072" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1602/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1602/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "2703" }, { "type": "SmallVariant", "id": "3379" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1602/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1602/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1602/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1602/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1602/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1602/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1133" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1602/?format=api" } }, { "type": "Combination", "id": "OLI1604", "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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:10.056847" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3382" }, { "type": "SmallVariant", "id": "3383" }, { "type": "SmallVariant", "id": "381" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1604/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1134" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1604/?format=api" } }, { "type": "Combination", "id": "OLI1606", "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": 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": [ "OMIM612702", "OMIM614841", "OMIM606394", "OMIM615270", "OMIM147950", "OMIM616511", "OMIM614840", "OMIM612370", "OMIM610508", "OMIM308700", "OMIM609812", "OMIM612225", "OMIM613370", "OMIM616329", "OMIM610628", "OMIM614858", "OMIM125851", "OMIM606392", "OMIM614837", "OMIM614838", "OMIM614880", "OMIM615266", "OMIM125850", "OMIM244200", "OMIM613375", "OMIM614842", "OMIM600496", "OMIM606391", "OMIM614839", "OMIM615269", "OMIM146110" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "European/Caucasian", "lastmodified": "2023-05-16T12:03:10.166592" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "432" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1606/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1606/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3385" }, { "type": "SmallVariant", "id": "3386" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1606/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1606/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "969" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1606/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1606/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1606/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1606/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "846" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1606/?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": 104 } }