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GENE - TERM ANNOTATION REPORT

RGD ID: 12086777
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SEPTIN3
Name: septin 3
Acc ID: DOID:0081147
Term: common variable immunodeficiency 4
Definition: A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19666484/ "DO" "DO"
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)
SEPTIN3 ISOSEPTIN3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency, common variable, 4PMID:19666484 PMID:28492532
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