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GENE - TERM ANNOTATION REPORT

RGD ID: 1560810
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tnfrsf13c
Name: TNF receptor superfamily member 13C
Acc ID: DOID:12177
Term: common variable immunodeficiency
Definition: An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Common_variable_immunodeficiency "DO" "DO", http://www.merck.com/mmpe/sec13/ch164/ch164g.html "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)
Tnfrsf13c ISOTNFRSF13C (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Tnfrsf13c ISOTNFRSF13C (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Common Variable Immune Deficiency, RecessivePMID:28492532
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