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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking GCNT2 and cataract in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Pras E, etal., Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5.
  • 2 additional annotations were made from Pras E, etal., Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1940-5.
  • 1061 RGD objects have been annotated to cataract  (DOID:83)
  • 6 papers in RGD have been used to annotate GCNT2
  • Curation Notes: DNA:nonsense mutation:exon:


    • An association has been curated linking GCNT2 and cataract in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred by association of genotype and phenotype with RGD:12912033|RGD:12912038 (Homo sapiens) & RGD:12912033|RGD:12912038 (Homo sapiens)
  • 1061 RGD objects have been annotated to cataract  (DOID:83)
  • 6 papers in RGD have been used to annotate GCNT2
  • Curation Notes: ClinVar Annotator: match by term: Congenital cataract


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