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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking UQCRFS1 and lactic acidosis 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:14394925|RGD:14395148|RGD:14395150 (Homo sapiens) & RGD:14394925|RGD:14395148|RGD:14395150 (Homo sapiens) & RGD:14394925|RGD:14395148|RGD:14395150 (Homo sapiens)
  • 103 RGD objects have been annotated to lactic acidosis  (DOID:3650)
  • 4 papers in RGD have been used to annotate UQCRFS1
  • Curation Notes: ClinVar Annotator: match by term: Lactic acidosis
  • Original References(s): PMID:31883641


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