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GENE - TERM ANNOTATION REPORT

6 Annotations Found.

An association has been curated linking CYP1B1 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 Bhattacharjee A, etal., Mol Vis. 2008 May 8;14:841-50.
  • 5 additional annotations were made from Bhattacharjee A, etal., Mol Vis. 2008 May 8;14:841-50.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Qualifier: susceptibility
  • Curation Notes: DNA:snp:cds:p.L432V


    • An association has been curated linking CYP1B1 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 Yang M, etal., Mol Vis. 2009;15:432-7. Epub 2009 Feb 27.
  • 5 additional annotations were made from Yang M, etal., Mol Vis. 2009;15:432-7. Epub 2009 Feb 27.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: DNA:missense mutation, deletion:exon:p.R390H, g.4633delC


    • An association has been curated linking CYP1B1 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 Melki R, etal., Mol Vis. 2005 Nov 23;11:1012-7.
  • 4 additional annotations were made from Melki R, etal., Mol Vis. 2005 Nov 23;11:1012-7.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Qualifier: severity
  • Curation Notes: DNA:snp:cds:p.N453S


    • An association has been curated linking CYP1B1 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 El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
  • 7 additional annotations were made from El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Qualifier: susceptibility
  • Curation Notes: DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N


    • An association has been curated linking CYP1B1 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 Soley GC, etal., J Glaucoma. 2003 Feb;12(1):27-30.
  • 4 additional annotations were made from Soley GC, etal., J Glaucoma. 2003 Feb;12(1):27-30.
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Curation Notes: DNA:duplication:exon:g.1546-1555dupTCATGCCACC


    • An association has been curated linking CYP1B1 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 RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 13 RGD objects have been annotated to Increased cup-to-disc ratio  (HP:0012796)
  • 33 papers in RGD have been used to annotate CYP1B1
  • Original References(s): ORPHA:98977


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