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GENE - TERM ANNOTATION REPORT

RGD ID: 14173345
Species: Sus scrofa
RGD Object: Gene
Symbol: STAT1
Name: signal transducer and activator of transcription 1
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)
STAT1 ISOSTAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Combined T and B cell immunodeficiencyPMID:22730530 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24239102 PMID:25042743 PMID:25741868 PMID:26604104 PMID:26743090 PMID:27379765 PMID:27577878 PMID:28492532 PMID:28597685
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