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GENE - TERM ANNOTATION REPORT

RGD ID: 1307828
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Irf7
Name: interferon regulatory factor 7
Acc ID: DOID:0111969
Term: immunodeficiency 39
Definition: A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/25814066/ "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)
Irf7 ISOIRF7 (Homo sapiens)7240710OMIM  
Irf7 ISOIRF7 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Irf7 ISOIRF7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 39PMID:16199547 PMID:17576681 PMID:25741868 PMID:25814066 PMID:28492532 PMID:31172279 PMID:32972995 PMID:33225392 PMID:9536098
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