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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Jak3 and severe combined immunodeficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Bunting KD, etal., Nat Med. 1998 Jan;4(1):58-64.
  • The annotation has been inferred from sequence orthology with Jak3 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Bunting KD, etal., Nat Med. 1998 Jan;4(1):58-64.
  • 487 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 42 papers in RGD have been used to annotate Jak3
  • Qualifier: treatment


    • An association has been curated linking Jak3 and severe combined immunodeficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with JAK3 (Homo sapiens) [(EXP) inferred from experiment]
  • 487 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 42 papers in RGD have been used to annotate Jak3
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15220007 PMID:15661026


    • An association has been curated linking Jak3 and severe combined immunodeficiency in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with JAK3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 487 RGD objects have been annotated to severe combined immunodeficiency  (DOID:627)
  • 42 papers in RGD have been used to annotate Jak3
  • Curation Notes: ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease
  • Original References(s): PMID: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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