Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | KCNE2 | Pig | amyotrophic lateral sclerosis type 1 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar | PMID:17237124 more ... | KCNE2 | Pig | atrial fibrillation | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation | ClinVar | PMID:15368194 more ... | KCNE2 | Pig | autosomal dominant intellectual developmental disorder 7 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar | PMID:17237124 more ... | KCNE2 | Pig | Cardiac Arrhythmias | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | dilated cardiomyopathy | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | | KCNE2 | Pig | familial atrial fibrillation | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial atrial fibrillation | ClinVar | PMID:25741868 | KCNE2 | Pig | Familial Atrial Fibrillation 4 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Atrial fibrillation more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | familial hypertrophic cardiomyopathy | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy | ClinVar | PMID:15368194 more ... | KCNE2 | Pig | Familial Platelet Disorder with Associated Myeloid Malignancy | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:17237124 more ... | KCNE2 | Pig | hypertrophic cardiomyopathy | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:10220144 more ... | KCNE2 | Pig | hypertrophic cardiomyopathy 1 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis | ClinVar | PMID:15368194 more ... | KCNE2 | Pig | immunodeficiency 28 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 28 | ClinVar | PMID:17237124 more ... | KCNE2 | Pig | long QT syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | long QT syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | long QT syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | long QT syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | long QT syndrome 1 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | Long QT Syndrome 3/6 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome 3/6 and digenic | ClinVar | PMID:16922724 and PMID:22581653 | KCNE2 | Pig | long QT syndrome 6 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | Parkinson's disease 20 | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar | PMID:28492532 | KCNE2 | Pig | Romano-Ward Syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10219239 more ... | KCNE2 | Pig | thrombocytopenia | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:32581362 | KCNE2 | Pig | ZTTK syndrome | | ISO | KCNE2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: ZTTK syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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