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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PON1 and Increased cup-to-disc ratio in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Mackness B, etal., Clin Sci (Lond). 2000 Mar;98(3):355-63.
  • 7 additional annotations were made from Mackness B, etal., Clin Sci (Lond). 2000 Mar;98(3):355-63.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 91 papers in RGD have been used to annotate PON1
  • Qualifier: severity
  • Curation Notes: associated with Diabetic Retinopathy;DNA:missense mutations:cds:p.L55M, p.Q192R


    • An association has been curated linking PON1 and Increased cup-to-disc ratio in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Inagaki Y, etal., Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):984-90. Epub 2006 Jan 13.
  • 4 additional annotations were made from Inagaki Y, etal., Graefes Arch Clin Exp Ophthalmol. 2006 Aug;244(8):984-90. Epub 2006 Jan 13.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 91 papers in RGD have been used to annotate PON1
  • Curation Notes: DNA:missense mutations:cds:p.L55M, p.Q192R


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