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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking E2f2 and 3-Hydroxy-3-Methylglutaryl-CoA Lyase 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 E2F2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 74 RGD objects have been annotated to 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  (DOID:9006234)
  • 3 papers in RGD have been used to annotate E2f2
  • Curation Notes: ClinVar Annotator: match by term: Deficiency of hydroxymethylglutaryl-CoA lyase
  • Original References(s): PMID:28492532


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