Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brugada syndrome 1 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar | PMID:15735608 more ... | Cardiac Arrhythmias | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar | PMID:25741868 | episodic ataxia type 1 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar | PMID:21858020 and PMID:28492532 | familial atrial fibrillation | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial atrial fibrillation | ClinVar | | Familial Atrial Fibrillation 7 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15735608 more ... | genetic disease | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | heart disease | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Heart disease | ClinVar | PMID:22402074 more ... | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tumoral calcinosis more ... | ClinVar | PMID:25378588 and PMID:29389098 | lymphoproliferative syndrome 2 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoproliferative syndrome 2 | ClinVar | PMID:28492532 | Primary Pulmonary Hypertension, 1 | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:20018952 more ... | Pulmonary Arterial Hypertension | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar | PMID:23861362 more ... | third-degree atrioventricular block | | ISO | KCNA5 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Third degree atrioventricular block | ClinVar | PMID:28492532 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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