Combination List
This API endpoint handles listing (/combinations) and retrieval (/combinations/{combination_pk}/) of oligogenic combinations from the database
GET /api/references/980/combinations/?format=api&ordering=ethnicity
{ "data": [ { "type": "Combination", "id": "OLI1654", "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": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:26.812928" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1654/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1654/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3477" }, { "type": "SmallVariant", "id": "3478" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1654/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1654/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1654/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1654/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1654/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1654/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1168" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1654/?format=api" } }, { "type": "Combination", "id": "OLI1655", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:26.862963" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1655/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1655/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3479" }, { "type": "SmallVariant", "id": "3478" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1655/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1655/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1655/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1655/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1655/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1655/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1169" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1655/?format=api" } }, { "type": "Combination", "id": "OLI1656", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:26.922069" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1656/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1656/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3480" }, { "type": "SmallVariant", "id": "3481" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1656/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1656/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1656/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1656/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1656/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1656/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1170" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1656/?format=api" } }, { "type": "Combination", "id": "OLI1657", "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": 0, "functional_variant_evidence_metascore": 0, "functional_final_manual": 0, "functional_final_metascore": 0, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:26.981587" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1657/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1657/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3482" }, { "type": "SmallVariant", "id": "3483" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1657/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1657/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1657/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1657/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1657/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1657/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1171" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1657/?format=api" } }, { "type": "Combination", "id": "OLI1658", "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": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.051741" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1658/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1658/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3484" }, { "type": "SmallVariant", "id": "3485" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1658/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1658/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1658/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1658/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1658/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1658/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1172" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1658/?format=api" } }, { "type": "Combination", "id": "OLI1659", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.103242" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1659/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1659/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3486" }, { "type": "SmallVariant", "id": "3487" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1659/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1659/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1659/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1659/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1659/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1659/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1173" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1659/?format=api" } }, { "type": "Combination", "id": "OLI1660", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.155583" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1660/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1660/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3488" }, { "type": "SmallVariant", "id": "3489" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1660/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1660/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1660/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1660/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1660/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1660/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1174" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1660/?format=api" } }, { "type": "Combination", "id": "OLI1661", "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": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.208911" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1661/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1661/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3490" }, { "type": "SmallVariant", "id": "3491" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1661/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1661/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1661/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1661/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1661/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1661/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1175" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1661/?format=api" } }, { "type": "Combination", "id": "OLI1662", "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": 3, "functional_gene_evidence_knowledge": 0, "functional_gene_evidence_metascore": 3, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 1 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.263260" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1662/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1662/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3492" }, { "type": "SmallVariant", "id": "3493" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1662/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1662/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1662/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1662/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1662/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1662/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "61" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1662/?format=api" } }, { "type": "Combination", "id": "OLI1663", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.318569" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1663/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1663/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3494" }, { "type": "SmallVariant", "id": "3495" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1663/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1663/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1663/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1663/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1663/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1663/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1176" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1663/?format=api" } }, { "type": "Combination", "id": "OLI1664", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 1, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.374160" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1664/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1664/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3496" }, { "type": "SmallVariant", "id": "3497" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1664/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1664/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1664/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1664/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1664/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1664/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1177" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1664/?format=api" } }, { "type": "Combination", "id": "OLI1665", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.429541" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1665/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1665/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3498" }, { "type": "SmallVariant", "id": "3499" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1665/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1665/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1665/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1665/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1665/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1665/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1178" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1665/?format=api" } }, { "type": "Combination", "id": "OLI1666", "attributes": { "scores": { "familial_evidence": 0, "statistical_evidence_manual": 0, "statistical_evidence_knowledge": 0, "statistical_evidence_metascore": 0, "functional_gene_evidence_manual": 0, "functional_gene_evidence_manual_harmonized": 0, "functional_gene_evidence_knowledge": 2, "functional_gene_evidence_metascore": 2, "functional_variant_evidence_manual": 1, "functional_variant_evidence_knowledge": 0, "functional_variant_evidence_metascore": 1, "functional_final_manual": 0, "functional_final_metascore": 2, "final_manual": 0, "final_metascore": 0 }, "omim_id": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.487163" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1666/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1666/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3500" }, { "type": "SmallVariant", "id": "3501" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1666/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1666/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1666/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1666/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1666/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1666/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1179" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1666/?format=api" } }, { "type": "Combination", "id": "OLI1667", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.566952" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1667/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1667/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3502" }, { "type": "SmallVariant", "id": "3503" }, { "type": "SmallVariant", "id": "3504" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1667/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1667/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1667/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1667/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1667/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1667/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1180" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1667/?format=api" } }, { "type": "Combination", "id": "OLI1668", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.647688" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1668/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1668/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3505" }, { "type": "SmallVariant", "id": "3506" }, { "type": "SmallVariant", "id": "3507" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1668/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1668/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1668/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1668/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1668/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1668/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1181" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1668/?format=api" } }, { "type": "Combination", "id": "OLI1669", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.729682" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1669/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1669/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3508" }, { "type": "SmallVariant", "id": "3509" }, { "type": "SmallVariant", "id": "3510" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1669/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1669/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1669/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1669/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1669/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1669/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1182" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1669/?format=api" } }, { "type": "Combination", "id": "OLI1670", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.779484" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1670/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1670/diseases/?format=api" } }, "variant_set": { "meta": { "count": 2 }, "data": [ { "type": "SmallVariant", "id": "3508" }, { "type": "SmallVariant", "id": "3511" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1670/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1670/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1670/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1670/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1670/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1670/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1183" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1670/?format=api" } }, { "type": "Combination", "id": "OLI1671", "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": 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": [ "OMIM600151", "OMIM615994", "OMIM617406", "OMIM615993", "OMIM615990", "OMIM615984", "OMIM615989", "OMIM615986", "OMIM615996", "OMIM615982", "OMIM615981", "OMIM209900", "OMIM615988", "OMIM617119", "OMIM615995", "OMIM615983", "OMIM605231", "OMIM615992", "OMIM615991", "OMIM615987", "OMIM615985" ], "oligogenic_effect": "Unknown", "status": "CU", "effect_predicted": false, "ethnicity": "South Asian", "lastmodified": "2024-02-29T15:02:27.887240" }, "relationships": { "diseases": { "meta": { "count": 1 }, "data": [ { "type": "Disease", "id": "110" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1671/relationships/diseases?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1671/diseases/?format=api" } }, "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "3512" }, { "type": "SmallVariant", "id": "3513" }, { "type": "SmallVariant", "id": "3508" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1671/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1671/variants/?format=api" } }, "reference_set": { "meta": { "count": 1 }, "data": [ { "type": "Reference", "id": "980" } ], "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1671/relationships/reference_set?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1671/references/?format=api" } }, "gene_combination": { "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1671/relationships/gene_combination?format=api", "related": "https://olida.ibsquare.be/api/combinations/OLI1671/genecombinations/?format=api" }, "data": { "type": "GeneCombination", "id": "1184" } } }, "links": { "self": "https://olida.ibsquare.be/api/combinations/OLI1671/?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) 2026 · 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": 18 } }