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GENE - TERM ANNOTATION REPORT

RGD ID: 3771
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Stat1
Name: signal transducer and activator of transcription 1
Acc ID: DOID:0111945
Term: immunodeficiency 31A
Definition: A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/11452125/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "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)7240710OMIM  
Stat1 ISOSTAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 31a | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | ClinVar Annotator: match by term: STAT1 DEFICIENCY, AUTOSOMAL DOMINANTPMID:11452125 PMID:16934001 PMID:17576681 PMID:19436109 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22573496 PMID:22730530 PMID:22847544 PMID:23534974 PMID:23541320 PMID:23709754 PMID:24033266 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26743090 PMID:27114460 PMID:27379765 PMID:27577878 PMID:28161409 PMID:28258222 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28753426 PMID:28815025 PMID:30030262 PMID:32135276 PMID:35960392 PMID:9536098
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