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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Pcsk9 and Coronary Disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cohen JC, etal., N Engl J Med. 2006 Mar 23;354(12):1264-72.
  • The annotation has been inferred from sequence orthology with PCSK9 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cohen JC, etal., N Engl J Med. 2006 Mar 23;354(12):1264-72.
  • 621 RGD objects have been annotated to Coronary Disease  (DOID:9000528)
  • 19 papers in RGD have been used to annotate Pcsk9
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutation, nonsense mutations:cds:p.R46L, p.Y142X, p.C679X (human)


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