Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arrhythmogenic right ventricular cardiomyopathy | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar | | atrial fibrillation | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation | ClinVar | PMID:23861362 more ... | Bardet-Biedl syndrome | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bardet-Biedl syndrome | ClinVar | PMID:28492532 | Bloom syndrome | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Bloom syndrome | ClinVar | PMID:28492532 | Brugada syndrome | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome | ClinVar | PMID:25637381 more ... | Brugada syndrome 8 | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 8 | ClinVar | PMID:12750403 more ... | cardiac arrest | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrest | ClinVar | PMID:25741868 and PMID:28492532 | Cardiac Arrhythmias | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar | PMID:28492532 and PMID:32659924 | cardiomyopathy | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23623143 more ... | colorectal cancer | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar | PMID:28492532 | congestive heart failure | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congestive heart failure | ClinVar | PMID:25741868 and PMID:28492532 | dilated cardiomyopathy | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:25741868 more ... | Dilated Cardiomyopathy with Left Ventricular Noncompaction | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy | ClinVar | PMID:17646576 more ... | genetic disease | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | hypertrophic cardiomyopathy | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:23861362 more ... | Idiopathic Generalized Epilepsy 18 | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy more ... | ClinVar | PMID:23623143 more ... | left ventricular noncompaction | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Left ventricular noncompaction | ClinVar | PMID:23861362 more ... | long QT syndrome | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome | ClinVar | PMID:25741868 more ... | schizophrenia | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Sick Sinus Syndrome 2, Autosomal Dominant | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sick sinus syndrome 2 and autosomal dominant | ClinVar | PMID:12750403 more ... | Sudden Cardiac Death | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden cardiac death | ClinVar | PMID:21615589 more ... | Sudden Unexpected Nocturnal Death Syndrome | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome | ClinVar | PMID:25741868 more ... | Tay-Sachs disease | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tay-Sachs disease | ClinVar | PMID:1833974 more ... | Ventricular Tachycardia | | ISO | HCN4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular tachycardia | ClinVar | PMID:17576681 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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