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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pkig and adenosine deaminase deficiency 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 PKIG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 77 RGD objects have been annotated to adenosine deaminase deficiency  (DOID:5810)
  • 4 papers in RGD have been used to annotate Pkig
  • Curation Notes: ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • Original References(s): PMID:26255240 PMID:26376800 PMID:28492532


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