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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PON1 and Cognitive impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Helbecque N, etal., Neurosci Lett 2004 Mar 18;358(1):41-4.
  • 3 additional annotations were made from Helbecque N, etal., Neurosci Lett 2004 Mar 18;358(1):41-4.
  • 1091 RGD objects have been annotated to Cognitive impairment  (HP:0100543)
  • 91 papers in RGD have been used to annotate PON1
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp, missense mutation, haplotype:promoter, cds:g.-107T>C, p.Q129R


    • An association has been curated linking PON1 and Cognitive impairment in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 1091 RGD objects have been annotated to Cognitive impairment  (HP:0100543)
  • 91 papers in RGD have been used to annotate PON1
  • Original References(s): ORPHA:803


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