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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:0111944
Term: immunodeficiency 31B
Definition: A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/12590259/ "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)11554173CTDCTD Direct Evidence: marker/mechanism 
Stat1 ISOSTAT1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 31B | ClinVar Annotator: match by term: Mycobacterial and viral infections, susceptibility to, autosomal recessivePMID:12590259 PMID:16199547 PMID:16585605 PMID:17576681 PMID:19436109 PMID:20841510 PMID:21714643 PMID:21727188 PMID:22195034 PMID:22208278 PMID:22651901 PMID:22730530 PMID:22847544 PMID:23245795 PMID:23403048 PMID:23534974 PMID:23541320 PMID:23585529 PMID:23709754 PMID:24033266 PMID:24188975 PMID:24239102 PMID:24343863 PMID:25042743 PMID:25326637 PMID:25367169 PMID:25662309 PMID:25741868 PMID:26242301 PMID:26255980 PMID:26467763 PMID:26479788 PMID:26494717 PMID:26513235 PMID:26604104 PMID:26732859 PMID:26743090 PMID:26938784 PMID:26948078 PMID:27063510 PMID:27114460 PMID:27117246 PMID:27146670 PMID:27379765 PMID:27577878 PMID:27808400 PMID:28011069 PMID:28161409 PMID:28258222 PMID:28367431 PMID:28427548 PMID:28492532 PMID:28597685 PMID:28601685 PMID:28622416 PMID:28753426 PMID:28815025 PMID:28859974 PMID:29111217 PMID:29317535 PMID:30030262 PMID:30131873 PMID:30442829 PMID:31114772 PMID:31354696 PMID:31362757 PMID:31367980 PMID:31448411 PMID:31677808 PMID:31686315 PMID:32135276 PMID:32506361 PMID:32582194 PMID:32603902 PMID:32888943 PMID:33096415 PMID:33225392 PMID:33679782 PMID:34093558 PMID:34114647 PMID:34134972 PMID:34718945 PMID:35126392 PMID:35960392 PMID:35976469 PMID:36336768 PMID:9536098
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