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GENE - TERM ANNOTATION REPORT

RGD ID: 18786918
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: IFNAR2
Name: interferon alpha and beta receptor subunit 2
Acc ID: DOID:0111994
Term: immunodeficiency 45
Definition: A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/26424569/ "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)
IFNAR2 ISOIFNAR2 (Homo sapiens)7240710OMIM  
IFNAR2 ISOIFNAR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 45PMID:16757563 PMID:17576681 PMID:25741868 PMID:26424569 PMID:28492532 PMID:33193576 PMID:35442417 PMID:9536098
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