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GENE - TERM ANNOTATION REPORT

RGD ID: 14256575
Species: Sus scrofa
RGD Object: Gene
Symbol: JAK3
Name: Janus kinase 3
Acc ID: DOID:5810
Term: adenosine deaminase deficiency
Definition: A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2166947/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/2783588/ "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)
JAK3 ISOJAK3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency due to adenosine deaminase deficiencyPMID:10900158 PMID:10982185 PMID:11213805 PMID:11668610 PMID:11668621 PMID:14615376 PMID:17433830 PMID:17644747 PMID:19203666 PMID:21184155 PMID:23384681 PMID:25146434 PMID:25741868 PMID:28492532 PMID:30697212 PMID:30778343 PMID:32754152 PMID:33365035 PMID:34173127 PMID:35482138 PMID:7481768 PMID:9354668 PMID:9753072
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