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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Kmt2a and CD3epsilon deficiency in Mus musculus.        

  • 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 KMT2A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 72 RGD objects have been annotated to CD3epsilon deficiency  (DOID:0060017)
  • 23 papers in RGD have been used to annotate Kmt2a
  • Curation Notes: ClinVar Annotator: match by term: CD3epsilon deficiency
  • Original References(s): PMID:14602880 PMID:15546002 PMID:1635567 PMID:17277165 PMID:24216686 PMID:24910257 PMID:25373860 PMID:26822028 PMID:28492532 PMID:8490660


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