Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23861362 more ... | arrhythmogenic right ventricular dysplasia 1 | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12529708 more ... | Brugada syndrome | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome | ClinVar | PMID:25741868 and PMID:28492532 | cardiomyopathy | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiomyopathies | ClinVar | PMID:25741868 more ... | Contracture | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Contractures | ClinVar | | cranioectodermal dysplasia | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar | | Developmental Disease | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental disorder | ClinVar | PMID:25741868 more ... | dilated cardiomyopathy | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | hypertrophic cardiomyopathy | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:23861362 more ... | intellectual disability | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and mild | ClinVar | | left ventricular noncompaction | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction | ClinVar | PMID:23861362 more ... | Loeys-Dietz syndrome | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | Loeys-Dietz syndrome 4 | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 4 | ClinVar | PMID:24798638 more ... | Loeys-Dietz syndrome 5 | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12529708 more ... | long QT syndrome | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:23861362 more ... | thoracic aortic aneurysm | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | thoracic aortic aneurysm | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | thoracic aortic aneurysm | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | Ventricular Premature Complexes | | ISO | TGFB3 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ventricular contraction | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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