{ "disease_id": "DOID:0110652", "recommended_name": { "id": "DOID:0110652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110652", "name": "long QT syndrome 11", "description": "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2." }, "synonyms": [ { "id": "DOID:0110652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110652", "name": "LQT11", "description": "" }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "long QT syndrome 11", "description": "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "AKAP9 long QT syndrome", "description": "" }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "LQT11", "description": "" }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "long QT syndrome 11", "description": "" }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "long QT syndrome caused by mutation in AKAP9", "description": "" }, { "id": "MONDO:0012738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "name": "long QT syndrome type 11", "description": "" }, { "id": "MIM:611820", "resource": "MIM", "url": "https://www.omim.org/entry/611820", "name": "Long QT syndrome 11", "description": "Long QT syndrome 11" } ], "children": [], "id_list": [ "DOID:0110652" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0110652", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110652", "categories": [] }, { "id": "MONDO:0012738", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012738", "categories": [] }, { "id": "MIM:611820", "database": "MIM", "url": "https://www.omim.org/entry/611820", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q70FJ1-1", "uniprot_ac": "Q70FJ1", "uniprot_id": "AKAP9_MOUSE", "refseq_ac": "NP_919444", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "A-kinase anchor protein 9", "resource": "UniProtKB", "type": "recommended" }, { "name": "A-kinase anchor protein 9", "resource": "RefSeq", "type": "synonym" }, { "name": "AKAP-9", "resource": "UniProtKB", "type": "synonym" }, { "name": "PRKA9", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein kinase A-anchoring protein 9", "resource": "UniProtKB", "type": "synonym" }, { "name": "protein kinase A-anchoring protein 9; A kinase (PRKA) anchor protein (yotiao) 9", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Akap9", "resource": "UniProtKB", "type": "recommended" }, { "name": "5730481H23Rik; AKAP-9; AKAP450; G1-448-15; mei2-5; mKIAA0803; PRKA9; repro12", "resource": "RefSeq", "type": "synonym" }, { "name": "Akap9", "resource": "RefSeq", "type": "synonym" }, { "name": "Kiaa0803", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110652" } ] }, { "uniprot_canonical_ac": "Q99996-2", "uniprot_ac": "Q99996", "uniprot_id": "AKAP9_HUMAN", "refseq_ac": "NP_005742", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "A-kinase anchor protein 9", "resource": "UniProtKB", "type": "recommended" }, { "name": "A-kinase anchor protein 350 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "A-kinase anchor protein 450 kDa", "resource": "UniProtKB", "type": "synonym" }, { "name": "A-kinase anchor protein 9 isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "AKAP 120-like protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKAP 350", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKAP 450", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKAP-9", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG-NAP", "resource": "UniProtKB", "type": "synonym" }, { "name": "Centrosome- and Golgi-localized PKN-associated protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "PRKA9", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein hyperion", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein kinase A-anchoring protein 9", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein yotiao", "resource": "UniProtKB", "type": "synonym" }, { "name": "hgAKAP 350", "resource": "UniProtKB", "type": "synonym" }, { "name": "kinase N-associated protein; protein kinase A anchoring protein 9; A kinase (PRKA) anchor protein 9; AKAP9-BRAF fusion protein; protein yotiao; protein hyperion; AKAP 120-like protein; A-kinase anchor protein 350 kDa; A kinase (PRKA) anchor protein (yotiao) 9; centrosome- and golgi-localized protein kinase N-associated protein; A-kinase anchor protein 450 kDa; centrosome- and Golgi-localized PKN-associated protein; protein phosphatase 1, regulatory subunit 45", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "AKAP9", "resource": "UniProtKB", "type": "recommended" }, { "name": "AKAP-9; AKAP350; AKAP450; CG-NAP; HYPERION; LQT11; MU-RMS-40.16A; PPP1R45; PRKA9; YOTIAO", "resource": "RefSeq", "type": "synonym" }, { "name": "AKAP350", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKAP450", "resource": "UniProtKB", "type": "synonym" }, { "name": "AKAP9", "resource": "RefSeq", "type": "synonym" }, { "name": "KIAA0803", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0110652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110652" }, { "id": "611820", "database": "MIM", "url": "https://www.omim.org/entry/611820" } ] }, { "uniprot_canonical_ac": "A0A8M9PS32-1", "uniprot_ac": "A0A8M9PS32", "uniprot_id": "A0A8M9PS32_DANRE", "refseq_ac": "XP_021323895", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "A-kinase anchor protein 9", "resource": "RefSeq", "type": "synonym" }, { "name": "A-kinase anchor protein 9", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "akap9", "resource": "UniProtKB", "type": "recommended" }, { "name": "akap9", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110652" } ] }, { "uniprot_canonical_ac": "A0A0G2K548-1", "uniprot_ac": "A0A0G2K548", "uniprot_id": "A0A0G2K548_RAT", "refseq_ac": "XP_017447936", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "A-kinase anchor protein 9 isoform X4", "resource": "RefSeq", "type": "synonym" }, { "name": "A-kinase anchoring protein 9", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Akap9", "resource": "UniProtKB", "type": "recommended" }, { "name": "Akap9", "resource": "RefSeq", "type": "synonym" }, { "name": "CG-NAP; Gisp; Yotiao", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0110652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110652" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0110652" }