Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Congenital Hyperinsulinism | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | diabetes mellitus | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monogenic diabetes | ClinVar | PMID:10227563 more ... | diabetes mellitus | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Monogenic diabetes | ClinVar | PMID:10227563 more ... | Fanconi renotubular syndrome 4 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | focal epilepsy | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Focal-onset seizure | ClinVar | PMID:32581362 | genetic disease | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17563455 more ... | Glycosuria | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycosuria | ClinVar | PMID:10983627 more ... | hyperinsulinism | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10983627 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young type 1 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young type 1 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | maturity-onset diabetes of the young type 2 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 2 | ClinVar | | maturity-onset diabetes of the young type 3 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3 | ClinVar | PMID:25741868 and PMID:36257325 | polycystic liver disease | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital cystic disease of liver | ClinVar | PMID:10227563 more ... | Polycystic Liver Disease 1 | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease | ClinVar | PMID:10227563 more ... | T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: T-cell immunodeficiency more ... | ClinVar | PMID:22174160 and PMID:28492532 | type 2 diabetes mellitus | | ISO | HNF4A (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10227563 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene Ontology Annotations Click to see Annotation Detail View
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