Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025435 more ... | arrhythmogenic right ventricular cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | arrhythmogenic right ventricular cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | arrhythmogenic right ventricular dysplasia 1 | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia and familial 1 | ClinVar | PMID:17105751 more ... | arrhythmogenic right ventricular dysplasia 10 | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | arrhythmogenic right ventricular dysplasia 9 | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16199547 more ... | cardiac arrest | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrest | ClinVar | PMID:20400443 more ... | Cardiac Arrhythmias | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar | PMID:24033266 more ... | Cardiac Conduction Defect | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: cardiac conduction defect | ClinVar | PMID:21606396 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025435 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025435 more ... | cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16025435 more ... | catecholaminergic polymorphic ventricular tachycardia | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar | PMID:17105751 more ... | catecholaminergic polymorphic ventricular tachycardia | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia | ClinVar | PMID:17105751 more ... | catecholaminergic polymorphic ventricular tachycardia 1 | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1 | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17105751 more ... | dilated cardiomyopathy 1A | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar | PMID:25741868 and PMID:28492532 | dilated cardiomyopathy 1B | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy and familial | ClinVar | PMID:18639457 more ... | dilated cardiomyopathy 1BB | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12586364 more ... | Dilated Cardiomyopathy with Left Ventricular Noncompaction | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy | ClinVar | PMID:17576681 more ... | Familial Amyloid Polyneuropathies | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial amyloid neuropathy | ClinVar | PMID:28492532 | familial hypertrophic cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:17105751 more ... | genetic disease | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | Heart Block | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar | PMID:21606396 more ... | hypertrophic cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:20400443 more ... | hypertrophic cardiomyopathy 1 | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar | PMID:17105751 more ... | intellectual disability | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Lipoyltransferase 1 Deficiency | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lipoyltransferase 1 deficiency | ClinVar | PMID:25637381 more ... | long QT syndrome | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:17105751 more ... | restrictive cardiomyopathy | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Restrictive cardiomyopathy | ClinVar | PMID:23861362 more ... | Sudden Cardiac Death | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden cardiac death | ClinVar | PMID:25741868 | Ventricular Fibrillation | | ISO | DSG2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular fibrillation | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function