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GENE - TERM ANNOTATION REPORT

RGD ID: 68373
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Ruvbl1
Name: RuvB-like AAA ATPase 1
Acc ID: DOID:9007541
Term: Common Variable Immunodeficiency 15
Definition: An autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21.
Definition Source(s): OMIM:620670
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ruvbl1 ISORUVBL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency, common variable, 15PMID:28782633
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