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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking CNGB3 and Abnormal electroretinogram 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:12739008 (Homo sapiens)
  • 215 RGD objects have been annotated to Abnormal electroretinogram  (HP:0000512)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Abnormal electroretinogram
  • Original References(s): PMID:10888875 PMID:10958649 PMID:15657609 PMID:15712225 PMID:17652762 PMID:20079539 PMID:25558176 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29769798


    • An association has been curated linking CNGB3 and Abnormal electroretinogram 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
  • 215 RGD objects have been annotated to Abnormal electroretinogram  (HP:0000512)
  • 10 papers in RGD have been used to annotate CNGB3
  • Original References(s): ORPHA:1871


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