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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking CNGB3 and Monochromacy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wiszniewski W, etal., Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.
  • 3 additional annotations were made from Wiszniewski W, etal., Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.
  • 15 RGD objects have been annotated to Monochromacy  (HP:0007803)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: DNA:deletion: :c.1148delC (p.T383Xfs)


    • An association has been curated linking CNGB3 and Monochromacy 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
  • 15 RGD objects have been annotated to Monochromacy  (HP:0007803)
  • 10 papers in RGD have been used to annotate CNGB3
  • Original References(s): ORPHA:49382


    • An association has been curated linking CNGB3 and Monochromacy 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
  • 15 RGD objects have been annotated to Monochromacy  (HP:0007803)
  • 10 papers in RGD have been used to annotate CNGB3
  • Original References(s): OMIM:262300


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