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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular dysplasia 1 | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial 1 | ClinVar | PMID:15519027 more ... | Brugada syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar | PMID:12707239 more ... | cardiac amyloidosis | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: AMYLOID CARDIOMYOPATHY | ClinVar | PMID:11499719 more ... | cardiac arrest | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Cardiac arrest | ClinVar | PMID:14563344 more ... | Cardiac Conduction Defect | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: cardiac conduction defect | ClinVar | PMID:15519027 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:26656175 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:26656175 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:27000522 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:26822237 more ... | catecholaminergic polymorphic ventricular tachycardia | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | catecholaminergic polymorphic ventricular tachycardia 1 | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar | PMID:24033266 more ... | congenital disorder of glycosylation type IIc | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Rambam Hasharon syndrome | ClinVar | PMID:28492532 | dilated cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy 1A | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy 1B | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial | ClinVar | PMID:10521296 more ... | dilated cardiomyopathy 1H | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy with conduction defect | ClinVar | PMID:11499718 more ... | dilated cardiomyopathy 1MM | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction 10 | ClinVar | PMID:10424815 more ... | dilated cardiomyopathy 1MM | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction 10 | ClinVar | PMID:28498465 more ... | Dilated Cardiomyopathy with Left Ventricular Noncompaction | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy | ClinVar | PMID:12707239 more ... | Dyspnea | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Dyspnea | ClinVar | PMID:17576681 more ... | Familial Amyloid Polyneuropathies | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Familial amyloid polyneuropathy | ClinVar | PMID:11499719 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:28241245 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:28614222 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:10521296 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:28538763 more ... | familial hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:17686188, PMID:28492532 | genetic disease | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17937428 more ... | Heart Block | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:15519027 more ... | Hirschsprung's disease | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Aganglionic megacolon | ClinVar | PMID:25741868 | hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:7493026 more ... | hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:25637381 more ... | hypertrophic cardiomyopathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:10424815 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:28498465 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:29447731 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10521296 more ... | hypertrophic cardiomyopathy 1 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:29451820 more ... | hypertrophic cardiomyopathy 4 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:26688216 more ... | hypertrophic cardiomyopathy 4 | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:10424815 more ... | intellectual disability | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:15519027 more ... | intellectual disability | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:15519027 more ... | Isolated Noncompaction of the Ventricular Myocardium | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Isolated Noncompaction of the Ventricular Myocardium | ClinVar | PMID:25741868 | Left Ventricular Hypertrophy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Left ventricular hypertrophy | ClinVar | PMID:11499719 more ... | left ventricular noncompaction | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction | ClinVar | PMID:14563344 more ... | Left Ventricular Noncompaction 1 | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar | PMID:21310275 more ... | long QT syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:16335287 more ... | long QT syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:16335287 more ... | neuropathy | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:22958901 more ... | nuclear type mitochondrial complex I deficiency 20 | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | ClinVar | PMID:11499718 more ... | Paroxysmal Atrial Fibrillation | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Paroxysmal atrial fibrillation | ClinVar | PMID:12818575 more ... | peripheral nervous system disease | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Peripheral neuropathy | ClinVar | PMID:22958901 more ... | Sudden Death | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Sudden unexplained death | ClinVar | | sudden infant death syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar | PMID:11499718 more ... | Sudden Unexpected Nocturnal Death Syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:12707239 more ... | Tachycardia | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Tachycardia | ClinVar | PMID:17576681 more ... | transthyretin amyloidosis | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Familial Transthyretin Amyloidosis | ClinVar | PMID:11499719 more ... | Ventricular Premature Complexes | | ISO | RGD:1314284 | 8554872 | ClinVar more ... | ClinVar | PMID:11499718 more ... | Wolff-Parkinson-White syndrome | | ISO | RGD:1314284 | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | PMID:16858239 more ... | |