Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | esophageal atresia | | ISO | STAT5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Esophageal atresia | ClinVar | | genetic disease | | ISO | STAT5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | growth hormone insensitivity syndrome with immune dysregulation 1 | | ISO | STAT5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1 and autosomal recessive | ClinVar | PMID:28492532 | hyper IgE recurrent infection syndrome 1 | | ISO | STAT5A (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 and autosomal dominant | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Gene Ontology Annotations Click to see Annotation Detail View
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