{ "disease_id": "DOID:0050650", "recommended_name": { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "familial atrial fibrillation", "description": "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes." }, "synonyms": [ { "id": "DOID:0050650", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050650", "name": "ATFB", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene." }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "KCNQ1 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "atrial fibrillation, familial, type 3", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "familial atrial fibrillation caused by mutation in KCNQ1", "description": "" }, { "id": "MONDO:0011857", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011857", "name": "ATFB3", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, autosomal dominant", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "ATFB1", "description": "" }, { "id": "MONDO:0012066", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012066", "name": "atrial fibrillation, familial, 1", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "ATFB2", "description": "" }, { "id": "MONDO:0012167", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012167", "name": "atrial fibrillation, familial, 2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene." }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "KCNE2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "atrial fibrillation, familial, type 4", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "familial atrial fibrillation caused by mutation in KCNE2", "description": "" }, { "id": "MONDO:0012677", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012677", "name": "ATFB4", "description": "" }, { "id": "MONDO:0012678", 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"https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "atrial fibrillation, familial, type 6", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "familial atrial fibrillation caused by mutation in NPPA", "description": "" }, { "id": "MONDO:0012816", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012816", "name": "ATFB6", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene." }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "KCNA5 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "atrial fibrillation, familial, type 7", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "familial atrial fibrillation caused by mutation in KCNA5", "description": "" }, { "id": "MONDO:0012828", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012828", "name": "ATFB7", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "ATFB8", "description": "" }, { "id": "MONDO:0013100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013100", "name": "atrial fibrillation, familial, 8", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene." }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "KCNJ2 familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "atrial fibrillation, familial, type 9", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "familial atrial fibrillation caused by mutation in KCNJ2", "description": "" }, { "id": "MONDO:0013513", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013513", "name": "ATFB9", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene." }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "SCN5A familial atrial fibrillation", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "atrial fibrillation, familial, type 10", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "familial atrial fibrillation caused by mutation in SCN5A", "description": "" }, { "id": "MONDO:0013530", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013530", "name": "ATFB10", "description": "" }, { "id": "MONDO:0013544", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013544", "name": "atrial fibrillation, familial, 11", "description": "Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene." }, { "id": "MONDO:0013544", "resource": "MONDO", "url": 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"uniprot_canonical_ac": "A0A8N7UZM3-1", "uniprot_ac": "A0A8N7UZM3", "uniprot_id": "A0A8N7UZM3_DANRE", "refseq_ac": "NP_571767", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Cardiac myosin light chain-1", "type": "synonym" }, { "name": "cardiac myosin light chain-1", "type": "synonym" }, { "name": "lazy susan", "type": "synonym" } ], "gene_names": [ { "name": "cmlc1", "type": "recommended" }, { "name": "cmlc1", "type": "synonym" }, { "name": "zgc:103441", "type": "synonym" } ], "record_id": "A0A8N7UZM3-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "F1QVW0-1", "uniprot_ac": "F1QVW0", "uniprot_id": "F1QVW0_DANRE", "refseq_ac": "NP_942095", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Natriuretic peptides A precursor", "type": "synonym" }, { "name": "atrial natriuretic factor", "type": "synonym" }, { "name": "natriuretic peptide precursor A", "type": "synonym" }, { "name": "natriuretic peptides A precursor", "type": "synonym" } ], "gene_names": [ { "name": "nppa", "type": "recommended" }, { "name": "anf", "type": "synonym" }, { "name": "anp", "type": "synonym" }, { "name": "hm:zeh1304", "type": "synonym" }, { "name": "nppa", "type": "synonym" }, { "name": "zeh1304", "type": "synonym" } ], "record_id": "F1QVW0-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "A0A8M9QI68-1", "uniprot_ac": "A0A8M9QI68", "uniprot_id": "A0A8M9QI68_DANRE", "refseq_ac": "NP_001352117", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Zinc finger homeobox protein 3", "type": "recommended" }, { "name": "AT motif-binding factor 1", "type": "synonym" }, { "name": "AT-binding transcription factor 1", "type": "synonym" }, { "name": "Alpha-fetoprotein enhancer-binding protein", "type": "synonym" }, { "name": "Zinc finger homeodomain protein 3", "type": "synonym" }, { "name": "zinc finger homeobox 3", "type": "synonym" }, { "name": "zinc finger homeobox protein 3", "type": "synonym" } ], "gene_names": [ { "name": "zfhx3b", "type": "recommended" }, { "name": "fd23d06", "type": "synonym" }, { "name": "fj32b02", "type": "synonym" }, { "name": "im:7148790", "type": "synonym" }, { "name": "wu:fd23d06", "type": "synonym" }, { "name": "wu:fj32b02", "type": "synonym" }, { "name": "zfhx3b", "type": "synonym" }, { "name": "zfhx3", "type": "synonym" } ], "record_id": "A0A8M9QI68-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "F1Q7K3-1", "uniprot_ac": "F1Q7K3", "uniprot_id": "F1Q7K3_DANRE", "refseq_ac": "XP_692222", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Zinc finger homeobox protein 3", "type": "recommended" }, { "name": "AT motif-binding factor 1", "type": "synonym" }, { "name": "AT-binding transcription factor 1", "type": "synonym" }, { "name": "Alpha-fetoprotein enhancer-binding protein", "type": "synonym" }, { "name": "Zinc finger homeodomain protein 3", "type": "synonym" }, { "name": "zinc finger homeobox protein 3", "type": "synonym" } ], "gene_names": [ { "name": "zfhx3a", "type": "recommended" }, { "name": "zfhx3a", "type": "synonym" } ], "record_id": "F1Q7K3-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P70170-1", "uniprot_ac": "P70170", "uniprot_id": "ABCC9_MOUSE", "refseq_ac": "NP_001038185", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "ATP-binding cassette sub-family C member 9", "type": "recommended" }, { "name": "ATP-binding cassette sub-family C member 9 isoform d", "type": "synonym" }, { "name": "ATP-binding cassette transporter sub-family C member 9", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9", "type": "synonym" }, { "name": "Sulfonylurea receptor 2", "type": "synonym" }, { "name": "sulfonylurea receptor 2", "type": "synonym" }, { "name": "sulfonylurea-binding protein 2", "type": "synonym" } ], "gene_names": [ { "name": "Abcc9", "type": "recommended" }, { "name": 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musculus [10090]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily E member 2", "type": "recommended" }, { "name": "MinK-related peptide 1", "type": "synonym" }, { "name": "Minimum potassium ion channel-related peptide 1", "type": "synonym" }, { "name": "Potassium channel subunit beta MiRP1", "type": "synonym" }, { "name": "minK-related peptide 1", "type": "synonym" }, { "name": "minimum potassium ion channel related peptide 1", "type": "synonym" }, { "name": "potassium channel subunit beta MiRP1", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily E member 2", "type": "synonym" } ], "gene_names": [ { "name": "Kcne2", "type": "recommended" }, { "name": "2200002I16Rik", "type": "synonym" }, { "name": "Kcne2", "type": "synonym" }, { "name": "MiRP1", "type": "synonym" } ], "record_id": "Q9D808-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { 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], "protein_names": [ { "name": "Myosin light chain 4", "type": "recommended" }, { "name": "MLC1A", "type": "synonym" }, { "name": "MLC1EMB", "type": "synonym" }, { "name": "Myosin light chain 1, atrial/fetal isoform", "type": "synonym" } ], "gene_names": [ { "name": "Myl4", "type": "recommended" }, { "name": "Mlc1a", "type": "synonym" }, { "name": "Myla", "type": "synonym" } ], "record_id": "P09541-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q56A07-1", "uniprot_ac": "Q56A07", "uniprot_id": "SCN2B_MOUSE", "refseq_ac": "NP_001014761", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sodium channel regulatory subunit beta-2", "type": "recommended" }, { "name": "sodium channel regulatory subunit beta-2 precursor", "type": 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"name": "LQT6", "type": "synonym" }, { "name": "MIRP1", "type": "synonym" } ], "record_id": "Q9Y6J6-1", "evidence": [ { "id": "611493", "database": "MIM", "url": "https://www.omim.org/entry/611493" }, { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "O75694-1", "uniprot_ac": "O75694", "uniprot_id": "NU155_HUMAN", "refseq_ac": "NP_004289", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Nuclear pore complex protein Nup155", "type": "recommended" }, { "name": "155 kDa nucleoporin", "type": "synonym" }, { "name": "Nucleoporin Nup155", "type": "synonym" }, { "name": "nuclear pore complex protein Nup155 isoform 2", "type": "synonym" }, { "name": "nuclear pore complex protein Nup155", "type": "synonym" }, { "name": "nucleoporin 155kDa", "type": "synonym" }, 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finger homeodomain protein 3", "type": "synonym" } ], "gene_names": [ { "name": "ZFHX3", "type": "recommended" }, { "name": "ATBF1", "type": "synonym" }, { "name": "ATBT", "type": "synonym" }, { "name": "ATFB8", "type": "synonym" }, { "name": "C16orf47", "type": "synonym" }, { "name": "EIG20", "type": "synonym" }, { "name": "SCA4", "type": "synonym" }, { "name": "ZFH-3", "type": "synonym" }, { "name": "ZFHX3", "type": "synonym" }, { "name": "ZNF927", "type": "synonym" } ], "record_id": "Q15911-1", "evidence": [ { "id": "613055", "database": "MIM", "url": "https://www.omim.org/entry/613055" }, { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P38735-1", "uniprot_ac": "P38735", "uniprot_id": "VMR1_YEAST", "refseq_ac": "NP_011828", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "ABC transporter ATP-binding protein/permease VMR1", "type": "recommended" }, { "name": "Vacuolar multidrug resistance protein 1", "type": "synonym" }, { "name": "putative ATP-binding cassette multidrug transporter VMR1", "type": "synonym" } ], "gene_names": [ { "name": "VMR1", "type": "recommended" }, { "name": "VMR1", "type": "synonym" } ], "record_id": "P38735-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P32386-1", "uniprot_ac": "P32386", "uniprot_id": "YBT1_YEAST", "refseq_ac": "NP_013052", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "ATP-dependent bile acid permease", "type": "recommended" }, { 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], "gene_names": [ { "name": "NUP157", "type": "recommended" }, { "name": "NUP157", "type": "synonym" } ], "record_id": "P40064-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q63563-1", "uniprot_ac": "Q63563", "uniprot_id": "ABCC9_RAT", "refseq_ac": "NP_037172", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "ATP-binding cassette sub-family C member 9", "type": "recommended" }, { "name": "ATP-binding cassette sub-family C member 9", "type": "synonym" }, { "name": "ATP-binding cassette transporter sub-family C member 9", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9", "type": "synonym" }, { "name": "ATP-binding cassette, sub-family C, member 9-like", "type": "synonym" }, { "name": 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[10116]" } ], "protein_names": [ { "name": "Gap junction alpha-5 protein", "type": "recommended" }, { "name": "Connexin-40", "type": "synonym" }, { "name": "Cx40", "type": "synonym" }, { "name": "connexin 40", "type": "synonym" }, { "name": "connexin i", "type": "synonym" }, { "name": "gap junction alpha-5 protein", "type": "synonym" }, { "name": "gap junction membrane channel protein alpha 5", "type": "synonym" } ], "gene_names": [ { "name": "Gja5", "type": "recommended" }, { "name": "Cx40", "type": "synonym" }, { "name": "Cxn-40", "type": "synonym" }, { "name": "Cxni", "type": "synonym" }, { "name": "Gja5", "type": "synonym" } ], "record_id": "P28234-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q9Z0N7-1", "uniprot_ac": "Q9Z0N7", "uniprot_id": "KCNQ1_RAT", "refseq_ac": "NP_114462", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": 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"evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P63161-1", "uniprot_ac": "P63161", "uniprot_id": "KCNE2_RAT", "refseq_ac": "NP_598287", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily E member 2", "type": "recommended" }, { "name": "MiRP1", "type": "synonym" }, { "name": "MinK-related peptide 1", "type": "synonym" }, { "name": "Minimum potassium ion channel-related peptide 1", "type": "synonym" }, { "name": "Potassium channel subunit beta MiRP1", "type": "synonym" }, { "name": "minK-related peptide 1", "type": "synonym" }, { "name": "minimum potassium ion channel-related peptide 1", "type": "synonym" }, { "name": "potassium channel subunit beta MiRP1", "type": "synonym" }, { "name": 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GATA binding protein 5", "type": "synonym" } ], "gene_names": [ { "name": "Gata5", "type": "recommended" } ], "record_id": "A0ABZ3NNA5-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P19024-1", "uniprot_ac": "P19024", "uniprot_id": "KCNA5_RAT", "refseq_ac": "NP_037104", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel subfamily A member 5", "type": "recommended" }, { "name": "Potassium (K+) channel protein alpha 5", "type": "synonym" }, { "name": "RCK7", "type": "synonym" }, { "name": "RK4", "type": "synonym" }, { "name": "Voltage-gated potassium channel subunit Kv1.5", "type": "synonym" }, { "name": "potassium channel, voltage gated shaker related subfamily A, member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel subfamily A member 5", "type": "synonym" }, { "name": "potassium voltage-gated channel, shaker-related subfamily, member 5", "type": "synonym" }, { "name": "voltage-gated potassium channel subunit Kv1.5", "type": "synonym" } ], "gene_names": [ { "name": "Kcna5", "type": "recommended" }, { "name": "Kcna5", "type": "synonym" }, { "name": "Kv1.5", "type": "synonym" }, { "name": "Kv1", "type": "synonym" } ], "record_id": "P19024-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P17209-1", "uniprot_ac": "P17209", "uniprot_id": "MYL4_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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protein type V subunit alpha", "type": "synonym" }, { "name": "Voltage-gated sodium channel subunit alpha Nav1.5", "type": "synonym" } ], "gene_names": [ { "name": "Scn5a", "type": "recommended" } ], "record_id": "P15389-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "F7EZF0-1", "uniprot_ac": "F7EZF0", "uniprot_id": "F7EZF0_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "NK2 homeobox 6", "type": "synonym" } ], "gene_names": [ { "name": "Nkx2-6", "type": "recommended" } ], "record_id": "F7EZF0-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P01161-1", "uniprot_ac": "P01161", "uniprot_id": "ANF_RAT", 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"glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Nuclear pore complex protein Nup155", "type": "recommended" }, { "name": "155 kDa nucleoporin", "type": "synonym" }, { "name": "Nucleoporin Nup155", "type": "synonym" }, { "name": "P140", "type": "synonym" }, { "name": "nuclear pore complex protein Nup155", "type": "synonym" }, { "name": "nucleoporin 155kD", "type": "synonym" }, { "name": "nucleoporin Nup155", "type": "synonym" } ], "gene_names": [ { "name": "Nup155", "type": "recommended" }, { "name": "Nup155", "type": "synonym" } ], "record_id": "P37199-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "A0ABK0L407-1", "uniprot_ac": "A0ABK0L407", "uniprot_id": "A0ABK0L407_RAT", "refseq_ac": "NP_001414410", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Zinc finger homeobox protein 3", "type": "recommended" }, { "name": "AT motif-binding factor 1", "type": "synonym" }, { "name": "AT-binding transcription factor 1", "type": "synonym" }, { "name": "Alpha-fetoprotein enhancer-binding protein", "type": "synonym" }, { "name": "Zinc finger homeodomain protein 3", "type": "synonym" }, { "name": "zinc finger homeobox protein 3", "type": "synonym" } ], "gene_names": [ { "name": "Zfhx3", "type": "recommended" }, { "name": "Atbf1", "type": "synonym" }, { "name": "RGD1560268", "type": "synonym" }, { "name": "Zfhx3", "type": "synonym" } ], "record_id": "A0ABK0L407-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q00954-1", "uniprot_ac": "Q00954", "uniprot_id": "SCN1B_RAT", "refseq_ac": "NP_001257974", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sodium channel regulatory subunit beta-1", "type": "recommended" }, { "name": "sodium channel regulatory subunit beta-1 isoform 1 precursor", "type": "synonym" }, { "name": "sodium channel regulatory subunit beta-1", "type": "synonym" }, { "name": "sodium channel subunit beta-1", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type 1, beta polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type I, beta polypeptide", "type": "synonym" }, { "name": "sodium channel, voltage-gated, type I, beta subunit", "type": "synonym" } ], "gene_names": [ { "name": "Scn1b", "type": "recommended" }, { "name": "Scn1b", "type": "synonym" } ], "record_id": "Q00954-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": 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}, { "name": "irk1", "type": "synonym" }, { "name": "ir", "type": "synonym" } ], "record_id": "A0A0B4KH86-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "A0A0B4LHI9-1", "uniprot_ac": "A0A0B4LHI9", "uniprot_id": "A0A0B4LHI9_DROME", "refseq_ac": "NP_001287485", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG4370-PD", "type": "synonym" }, { "name": "Inwardly rectifying potassium channel 2, isoform D", "type": "synonym" }, { "name": "Irk2-PD", "type": "synonym" }, { "name": "inwardly rectifying potassium channel 2, isoform D", "type": "synonym" } ], "gene_names": [ { "name": "Irk2", "type": "recommended" }, { "name": "CG10180", "type": "synonym" }, { "name": "CG4370", "type": "synonym" }, { "name": "Dmel\\CG4370", "type": "synonym" }, { "name": "Dmel_CG4370", "type": "synonym" }, { "name": "Irk2", "type": "synonym" }, { "name": "Kir2", "type": "synonym" }, { "name": "dIRK-2", "type": "synonym" }, { "name": "dKirII", "type": "synonym" }, { "name": "dKir", "type": "synonym" }, { "name": "irk2", "type": "synonym" } ], "record_id": "A0A0B4LHI9-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P08510-1", "uniprot_ac": "P08510", "uniprot_id": "KCNAS_DROME", "refseq_ac": "NP_001162788", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Potassium voltage-gated channel protein Shaker", "type": "recommended" }, { "name": "CG12348-PH", "type": "synonym" }, { "name": "F-c transcription unit", "type": "synonym" }, { "name": "Protein minisleep", "type": "synonym" }, { "name": "Sh-PH", "type": "synonym" }, { "name": "Shaker-downheld", "type": "synonym" }, { "name": "minisleep", "type": "synonym" }, { "name": "shaker, isoform H", "type": "synonym" }, { "name": "shaker", "type": "synonym" } ], "gene_names": [ { "name": "Sh", "type": "recommended" }, { "name": "BcDNA:GH03046", "type": "synonym" }, { "name": "CG12348", "type": "synonym" }, { "name": "CG17860", "type": "synonym" }, { "name": "CG7640", "type": "synonym" }, { "name": "Dmel\\CG12348", "type": "synonym" }, { "name": "Dmel_CG12348", "type": "synonym" }, { "name": "EKO", "type": "synonym" }, { "name": "Eko", "type": "synonym" }, { "name": "F-c", "type": "synonym" }, { "name": "K[[v]]1", "type": "synonym" }, { "name": "Kv1", "type": "synonym" }, { "name": "SH", "type": "synonym" }, { "name": "Sha", "type": "synonym" }, { "name": "Shw", "type": "synonym" }, { "name": "Sh", "type": "synonym" }, { "name": "V-I", "type": "synonym" }, { "name": "minisleep", "type": "synonym" }, { "name": "mns", "type": "synonym" }, { "name": "sha", "type": "synonym" }, { "name": "sh", "type": "synonym" } ], "record_id": "P08510-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P52168-1", "uniprot_ac": "P52168", "uniprot_id": "PNR_DROME", "refseq_ac": "NP_476685", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "GATA-binding factor A", "type": "recommended" }, { "name": "CG3978-PA", "type": "synonym" }, { "name": "Protein pannier", "type": "synonym" }, { "name": "Transcription factor GATA-A", "type": "synonym" }, { "name": "dGATA-A", "type": "synonym" }, { "name": "pannier, isoform A", "type": "synonym" }, { "name": "pannier", "type": "synonym" }, { "name": "pnr-PA", "type": "synonym" } ], "gene_names": [ { "name": "pnr", "type": "recommended" }, { "name": "CG3978-PA", "type": "synonym" }, { "name": "CG3978", "type": "synonym" }, { "name": "Dmel\\CG3978", "type": "synonym" }, { "name": "Dmel_CG3978", "type": "synonym" }, { "name": "GATA-A", "type": "synonym" }, { "name": "GATA4", "type": "synonym" }, { "name": "GATAa/Pannier", "type": "synonym" }, { "name": "GATAa", "type": "synonym" }, { "name": "GATA", "type": "synonym" }, { "name": "PNR", "type": "synonym" }, { "name": "Pannier", "type": "synonym" }, { "name": "Pnr", "type": "synonym" }, { "name": "dGATAa/pannier", "type": "synonym" }, { "name": "dGATAa", "type": "synonym" }, { "name": "l(3)89B3", "type": "synonym" }, { "name": "pannier", "type": "synonym" }, { "name": "pnr", "type": "synonym" }, { "name": "prn", "type": "synonym" } ], "record_id": "P52168-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P35500-1", "uniprot_ac": "P35500", "uniprot_id": "SCNA_DROME", "refseq_ac": "NP_001036280", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Sodium channel protein para", "type": "recommended" }, { "name": "CG9907-PB", "type": "synonym" }, { "name": "DmNav1", "type": "synonym" }, { "name": "Out cold", "type": "synonym" }, { "name": "Out-cold", "type": "synonym" }, { "name": "Protein paralytic", "type": "synonym" }, { "name": "Sodium channel 1", "type": "synonym" }, { "name": "bang senseless", "type": "synonym" }, { "name": "bang sensitive", "type": "synonym" }, { "name": "bang-senseless", "type": "synonym" }, { "name": "bangsenseless", "type": "synonym" }, { "name": "para-PB", "type": "synonym" }, { "name": "paralytic, isoform B", "type": "synonym" }, { "name": "paralytic", "type": "synonym" }, { "name": "paralyzed", "type": "synonym" }, { "name": "shudderer", "type": "synonym" }, { "name": "smell-blind", "type": "synonym" }, { "name": "smellblind", "type": "synonym" }, { "name": "voltage gated sodium ion channel", "type": "synonym" }, { "name": "voltage-sensitive sodium channel", "type": "synonym" } ], "gene_names": [ { "name": "para", "type": "recommended" }, { "name": "CG9907", "type": "synonym" }, { "name": "DmNa[[V]]", "type": "synonym" }, { "name": "DmNa[[v]]1", "type": "synonym" }, { "name": "DmNa[[v]]", "type": "synonym" }, { "name": "DmNav1", "type": "synonym" }, { "name": "DmNav", "type": "synonym" }, { "name": "Dmel\\CG9907", "type": "synonym" }, { "name": "Dmel_CG9907", "type": "synonym" }, { "name": "Nav1", "type": "synonym" }, { "name": "Ocd", "type": "synonym" }, { "name": "Para", "type": "synonym" }, { "name": "Scn1alpha", "type": "synonym" }, { "name": "Shudderer", "type": "synonym" }, { "name": "Shu", "type": "synonym" }, { "name": "VSSC", "type": "synonym" }, { "name": "bas", "type": "synonym" }, { "name": "bss", "type": "synonym" }, { "name": "l(1)14Da", "type": "synonym" }, { "name": "l(1)ESHS48", "type": "synonym" }, { "name": "lincRNA.S9469", "type": "synonym" }, { "name": "olfD", "type": "synonym" }, { "name": "para13-5", "type": "synonym" }, { "name": "para", "type": "synonym" }, { "name": "par", "type": "synonym" }, { "name": "sbl-1", "type": "synonym" }, { "name": "sbl", "type": "synonym" } ], "record_id": "P35500-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P54357-1", "uniprot_ac": "P54357", "uniprot_id": "MLC2_DROME", "refseq_ac": "NP_511049", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Myosin-2 essential light chain", "type": "recommended" }, { "name": "CG3201-PA", "type": "synonym" }, { "name": "Mlc-c-PA", "type": "synonym" }, { "name": "Myosin II essential light chain", "type": "synonym" }, { "name": "Myosin-II", "type": "synonym" }, { "name": "Non-muscle myosin essential light chain", "type": "synonym" }, { "name": "alkali light chain of non-muscle myosin-II", "type": "synonym" }, { "name": "essential light chain-cytoplasmic", "type": "synonym" }, { "name": "essential myosin light chain-cytoplasmic", "type": "synonym" }, { "name": "myosin II", "type": "synonym" }, { "name": "myosin light chain cytoplasmic, isoform A", "type": "synonym" }, { "name": "myosin light chain-cytoplasmic", "type": "synonym" }, { "name": "non-muscle myosin II", "type": "synonym" }, { "name": "non-muscle myosin-II", "type": "synonym" } ], "gene_names": [ { "name": "Mlc-c", "type": "recommended" }, { "name": "CG3201", "type": "synonym" }, { "name": "DmMLC_C", "type": "synonym" }, { "name": "Dmel\\CG3201", "type": "synonym" }, { "name": "Dmel_CG3201", "type": "synonym" }, { "name": "ELC1", "type": "synonym" }, { "name": "ELC", "type": "synonym" }, { "name": "Mlc-c", "type": "synonym" }, { "name": "MyoII", "type": "synonym" }, { "name": "mlc-c", "type": "synonym" }, { "name": "nmELC", "type": "synonym" } ], "record_id": "P54357-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P28167-1", "uniprot_ac": "P28167", "uniprot_id": "ZFH2_DROME", "refseq_ac": "NP_524623", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Zinc finger protein 2", "type": "recommended" }, { "name": "CG1449-PA", "type": "synonym" }, { "name": "Zinc finger homeodomain protein 2", "type": "synonym" }, { "name": "Zn finger homeodomain 2, isoform A", "type": "synonym" }, { "name": "zfh2-PA", "type": "synonym" }, { "name": "zinc finger homeodomain 2", "type": "synonym" }, { "name": "zinc finger homeodomain-2", "type": "synonym" }, { "name": "zn finger homeodomain 2", "type": "synonym" } ], "gene_names": [ { "name": "zfh2", "type": "recommended" }, { "name": "CG1449", "type": "synonym" }, { "name": "Dmel\\CG1449", "type": "synonym" }, { "name": "Dmel_CG1449", "type": "synonym" }, { "name": "ZFH-2", "type": "synonym" }, { "name": "ZFH2", "type": "synonym" }, { "name": "Zfh-2", "type": "synonym" }, { "name": "Zfh2", "type": "synonym" }, { "name": "zfh-2", "type": "synonym" }, { "name": "zfh2", "type": "synonym" } ], "record_id": "P28167-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q9V463-1", "uniprot_ac": "Q9V463", "uniprot_id": "NU154_DROME", "refseq_ac": "NP_001285827", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Nuclear pore complex protein Nup154", "type": "recommended" }, { "name": "154 kDa nucleoporin", "type": "synonym" }, { "name": "CG4579-PD", "type": "synonym" }, { "name": "Nucleoporin Nup154", "type": "synonym" }, { "name": "Nup154-PD", "type": "synonym" }, { "name": "Tulipan", "type": "synonym" }, { "name": "nucleoporin 154kD, isoform D", "type": "synonym" }, { "name": "nucleoporin 154", "type": "synonym" }, { "name": "tulipano", "type": "synonym" }, { "name": "zonder kloten", "type": "synonym" } ], "gene_names": [ { "name": "Nup154", "type": "recommended" }, { "name": "BcDNA:LD21772", "type": "synonym" }, { "name": "CG4579", "type": "synonym" }, { "name": "Dmel\\CG4579", "type": "synonym" }, { "name": "NUP154", "type": "synonym" }, { "name": "Nup154", "type": "synonym" }, { "name": "Nup155", "type": "synonym" }, { "name": "Nup32D", "type": "synonym" }, { "name": "Nup", "type": "synonym" }, { "name": "l(2)01501", "type": "synonym" }, { "name": "l(2)10432", "type": "synonym" }, { "name": "ms(2)zk", "type": "synonym" }, { "name": "nup154", "type": "synonym" }, { "name": "nup32D", "type": "synonym" }, { "name": "tip", "type": "synonym" }, { "name": "tlp", "type": "synonym" }, { "name": "zk", "type": "synonym" } ], "record_id": "Q9V463-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q9NYC9-1", "uniprot_ac": "Q9NYC9", "uniprot_id": "DYH9_HUMAN", "refseq_ac": "NP_001363", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 9", "type": "recommended" }, { "name": "Axonemal beta dynein heavy chain 9", "type": "synonym" }, { "name": "Ciliary dynein heavy chain 9", "type": "synonym" }, { "name": "DNAH9 variant protein", "type": "synonym" }, { "name": "axonemal beta dynein heavy chain 9", "type": "synonym" }, { "name": "ciliary dynein heavy chain 9", "type": "synonym" }, { "name": "dynein axonemal heavy chain 9 isoform 2", "type": "synonym" }, { "name": "dynein, axonemal, heavy polypeptide 9", "type": "synonym" } ], "gene_names": [ { "name": "DNAH9", "type": "recommended" }, { "name": "CILD40", "type": "synonym" }, { "name": "DNAH17L", "type": "synonym" }, { "name": "DNAH9", "type": "synonym" }, { "name": "DNEL1", "type": "synonym" }, { "name": "DYH9", "type": "synonym" }, { "name": "Dnahc9", "type": "synonym" }, { "name": "HL-20", "type": "synonym" }, { "name": "HL20", "type": "synonym" }, { "name": "KIAA0357", "type": "synonym" } ], "record_id": "Q9NYC9-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P14324-1", "uniprot_ac": "P14324", "uniprot_id": "FPPS_HUMAN", "refseq_ac": "NP_001129293", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Farnesyl pyrophosphate synthase", "type": "recommended" }, { "name": "(2E,6E)-farnesyl diphosphate synthase", "type": "synonym" }, { "name": "2.5.1.10", "type": "synonym" }, { "name": "2.5.1.1", "type": "synonym" }, { "name": "Dimethylallyltranstransferase", "type": "synonym" }, { "name": "FPP synthase", "type": "synonym" }, { "name": "FPP synthetase", "type": "synonym" }, { "name": "FPS", "type": "synonym" }, { "name": "Farnesyl diphosphate synthase", "type": "synonym" }, { "name": "Geranyltranstransferase", "type": "synonym" }, { "name": "farnesyl pyrophosphate synthase isoform a", "type": "synonym" }, { "name": "farnesyl pyrophosphate synthase", "type": "synonym" }, { "name": "farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase", "type": "synonym" } ], "gene_names": [ { "name": "FDPS", "type": "recommended" }, { "name": "FDPS", "type": "synonym" }, { "name": "FPPS", "type": "synonym" }, { "name": "FPS", "type": "synonym" }, { "name": "KIAA1293", "type": "synonym" }, { "name": "POROK9", "type": "synonym" } ], "record_id": "P14324-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "A6NCS4-1", "uniprot_ac": "A6NCS4", "uniprot_id": "NKX26_HUMAN", "refseq_ac": "NP_001129743", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Homeobox protein Nkx-2.6", "type": "recommended" }, { "name": "Homeobox protein NK-2 homolog F", "type": "synonym" }, { "name": "NK2 transcription factor related, locus 6", "type": "synonym" }, { "name": "homeobox protein NK2 homolog F", "type": "synonym" }, { "name": "homeobox protein NKX2.6", "type": "synonym" }, { "name": "homeobox protein Nkx-2.6", "type": "synonym" }, { "name": "tinman homolog", "type": "synonym" }, { "name": "tinman paralog", "type": "synonym" } ], "gene_names": [ { "name": "NKX2-6", "type": "recommended" }, { "name": "CSX2", "type": "synonym" }, { "name": "CTHM", "type": "synonym" }, { "name": "NKX2-6", "type": "synonym" }, { "name": "NKX2F", "type": "synonym" }, { "name": "NKX4-2", "type": "synonym" } ], "record_id": "A6NCS4-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "P12829-1", "uniprot_ac": "P12829", "uniprot_id": "MYL4_HUMAN", "refseq_ac": "NP_001002841", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Myosin light chain 4", "type": "recommended" }, { "name": "Myosin light chain 1, embryonic muscle/atrial isoform", "type": "synonym" }, { "name": "Myosin light chain alkali GT-1 isoform", "type": "synonym" }, { "name": "atrial myosin light chain 1", "type": "synonym" }, { "name": "atrial, embryonic", "type": "synonym" }, { "name": "myosin light chain 4", "type": "synonym" }, { "name": "myosin, atrial/fetal muscle, light chain", "type": "synonym" }, { "name": "myosin, light chain 4, alkali", "type": "synonym" }, { "name": "myosin, light polypeptide 4, alkali", "type": "synonym" } ], "gene_names": [ { "name": "MYL4", "type": "recommended" }, { "name": "ALC1", "type": "synonym" }, { "name": "AMLC", "type": "synonym" }, { "name": "GT1", "type": "synonym" }, { "name": "MLC1", "type": "synonym" }, { "name": "MYL4", "type": "synonym" }, { "name": "PRO1957", "type": "synonym" } ], "record_id": "P12829-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] }, { "uniprot_canonical_ac": "Q9BWX5-1", "uniprot_ac": "Q9BWX5", "uniprot_id": "GATA5_HUMAN", "refseq_ac": "NP_536721", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription factor GATA-5", "type": "recommended" }, { "name": "GATA binding factor-5", "type": "synonym" }, { "name": "GATA-binding factor 5", "type": "synonym" }, { "name": "transcription factor GATA-5", "type": "synonym" } ], "gene_names": [ { "name": "GATA5", "type": "recommended" }, { "name": "CHTD5", "type": "synonym" }, { "name": "GATA5", "type": "synonym" }, { "name": "GATAS", "type": "synonym" }, { "name": "bB379O24.1", "type": "synonym" } ], "record_id": "Q9BWX5-1", "evidence": [ { "id": "0050650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050650" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050650" }