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GENE - TERM ANNOTATION REPORT

RGD ID: 1309320
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Top3a
Name: DNA topoisomerase III alpha
Acc ID: DOID:0081145
Term: common variable immunodeficiency 2
Definition: A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/16007087/ "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)
Top3a ISOTOP3A (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency, common variable, 2PMID:28492532
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