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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Ercc2 and macular degeneration in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gorgun E, etal., Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4732-7. doi: 10.1167/iovs.09-4842. Epub 2010 Apr 7.
  • The annotation has been inferred from sequence orthology with ERCC2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Gorgun E, etal., Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4732-7. doi: 10.1167/iovs.09-4842. Epub 2010 Apr 7.
  • 162 RGD objects have been annotated to macular degeneration  (DOID:4448)
  • 80 papers in RGD have been used to annotate Ercc2
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human)


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