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GENE - TERM ANNOTATION REPORT

RGD ID: 735950
Species: Homo sapiens
RGD Object: Gene
Symbol: CACNA1A
Name: calcium voltage-gated channel subunit alpha1 A
Acc ID: DOID:628
Term: combined T cell and B cell immunodeficiency
Definition: A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Combined_immunodeficiencies "DO" "DO", http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 "DO" "DO", https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2 "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)
CACNA1A IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined T and B cell immunodeficiencyPMID:25741868 PMID:26467025 PMID:28492532
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