Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20890277 more ... | breast ductal carcinoma | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ductal breast carcinoma | ClinVar | | Brugada syndrome | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome | ClinVar | PMID:24033266 more ... | Cardiac Conduction Defect | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: cardiac conduction defect | ClinVar | PMID:23861362 more ... | cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12166651 more ... | cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12166651 more ... | dilated cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12166651 more ... | dilated cardiomyopathy 1A | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar | PMID:24033266 more ... | dilated cardiomyopathy 1B | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy and familial | ClinVar | PMID:25741868 more ... | dilated cardiomyopathy 1O | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:12166651 more ... | familial atrial fibrillation | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial atrial fibrillation | ClinVar | PMID:24033266 more ... | Familial Atrial Fibrillation 12 | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation more ... | ClinVar | PMID:15034580 more ... | familial hypertrophic cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:28492532 | genetic disease | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:23861362 more ... | Heart Block | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Conduction disorder of the heart | ClinVar | PMID:23861362 more ... | hypertrichotic osteochondrodysplasia Cantu type | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrichotic osteochondrodysplasia Cantu type | ClinVar | PMID:10398267 more ... | hypertrophic cardiomyopathy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:17245405 more ... | INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability and myopathy syndrome | ClinVar | PMID:15034580 more ... | invasive ductal carcinoma | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Breast cancer and invasive ductal | ClinVar | | Joint Instability | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Joint hypermobility | ClinVar | PMID:22608503 more ... | Kleefstra syndrome 1 | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:21344641 more ... | Left Ventricular Hypertrophy | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular hypertrophy | ClinVar | PMID:22608503 more ... | long QT syndrome | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Prolonged QT interval | ClinVar | | Macrocephaly | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macrocephaly | ClinVar | PMID:22608503 more ... | Micrognathism | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Micrognathia | ClinVar | PMID:22608503 more ... | myocardial infarction | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myocardial infarction | ClinVar | PMID:16563363 more ... | patent ductus arteriosus | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Patency of the ductus arteriosus | ClinVar | PMID:22608503 more ... | Sudden Unexpected Nocturnal Death Syndrome | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:24033266 more ... | Ventricular Tachycardia | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular tachycardia | ClinVar | PMID:16563363 more ... | Wolff-Parkinson-White syndrome | | ISO | ABCC9 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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