Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar | PMID:21887725 more ... | Bradycardia | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bradycardia | ClinVar | PMID:25741868 and PMID:28492532 | Brugada syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | cardiac arrest | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrest | ClinVar | PMID:28492532 | Cardiac Conduction Defect | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: cardiac conduction defect | ClinVar | PMID:21887725 more ... | cardiomyopathy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21887725 more ... | catecholaminergic polymorphic ventricular tachycardia | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar | | catecholaminergic polymorphic ventricular tachycardia 1 | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar | | developmental and epileptic encephalopathy 12 | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 12 | ClinVar | PMID:28492532 | dilated cardiomyopathy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:25741868 | epilepsy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:25741868 and PMID:28492532 | erythrokeratodermia variabilis et progressiva 6 | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 6 | ClinVar | PMID:16199547 more ... | Failure to Thrive | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Failure to thrive | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:21887725 more ... | Heart Block | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar | PMID:21887725 more ... | heart conduction disease | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Conduction system disorder | ClinVar | PMID:28492532 | hypertrophic cardiomyopathy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:23382873 more ... | long QT syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:21887725 more ... | myoepithelioma | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myoepithelial tumor | ClinVar | | patent foramen ovale | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Patent foramen ovale | ClinVar | PMID:25741868 and PMID:28492532 | progressive familial heart block | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20562447 more ... | Progressive Familial Heart Block Type I | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart block progressive familial type 1 | ClinVar | PMID:20562447 more ... | progressive familial heart block type IA | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20562447 more ... | progressive familial heart block type IA | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar | PMID:20562447 more ... | progressive familial heart block type IB | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | restrictive cardiomyopathy | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Restrictive cardiomyopathy | ClinVar | PMID:25741868 and PMID:28492532 | short QT syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short QT syndrome | ClinVar | PMID:25741868 | Sudden Cardiac Death | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:21887725 more ... | Sudden Death | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexplained death | ClinVar | PMID:25741868 | Sudden Unexpected Nocturnal Death Syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:17576681 more ... | Tachycardia | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tachycardia | ClinVar | PMID:25741868 and PMID:28492532 | Ventricular Fibrillation | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular fibrillation | ClinVar | PMID:21887725 more ... | Ventricular Tachycardia | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular tachycardia | ClinVar | PMID:25741868 and PMID:28492532 | West syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypsarrhythmia | ClinVar | PMID:25741868 and PMID:28492532 | Wolff-Parkinson-White syndrome | | ISO | TRPM4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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