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GENE - TERM ANNOTATION REPORT

RGD ID: 2940
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Jak3
Name: Janus kinase 3
Acc ID: DOID:627
Term: severe combined immunodeficiency
Definition: A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)
Definition Source(s): http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency "DO" "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency "DO" "DO", http://www.scid.net/ "DO" "DO", https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency "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)
Jak3treatmentISOJak3 (Mus musculus)11531109RGD  
Jak3 ISOJAK3 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:15220007 PMID:15661026
Jak3 ISOJAK3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency diseasePMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:15644840 PMID:17433830 PMID:17644747 PMID:18559588 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30293248 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 PMID:7481768 PMID:9354668 PMID:9753072
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