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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking PPEF1 and Pyruvate Dehydrogenase E1 Alpha Deficiency in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:26898743 (Homo sapiens)
  • 8 RGD objects have been annotated to Pyruvate Dehydrogenase E1 Alpha Deficiency  (DOID:9000982)
  • 1 papers in RGD have been used to annotate PPEF1
  • Curation Notes: ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency
  • Original References(s): PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 PMID:9618178


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