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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking CNGB3 and Rod-cone dystrophy 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:8596733 (Homo sapiens)
  • 400 RGD objects have been annotated to Rod-cone dystrophy  (HP:0000510)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:10888875 PMID:10958649 PMID:12815043 PMID:1347967 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:19592100 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30544257 PMID:30718709 PMID:32860008 PMID:33546218 PMID:36909829


    • An association has been curated linking CNGB3 and Rod-cone dystrophy 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:13784077 (Homo sapiens)
  • 400 RGD objects have been annotated to Rod-cone dystrophy  (HP:0000510)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:15712225 PMID:26106334 PMID:28005958 PMID:28224992 PMID:28492532


    • An association has been curated linking CNGB3 and Rod-cone dystrophy 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:9480340 (Homo sapiens)
  • 400 RGD objects have been annotated to Rod-cone dystrophy  (HP:0000510)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:15161866 PMID:16379026 PMID:22975760 PMID:22995991 PMID:24504161 PMID:25741868 PMID:28418496 PMID:28492532 PMID:28795510 PMID:30418171 PMID:32869108


    • An association has been curated linking CNGB3 and Rod-cone dystrophy 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:10041403 (Homo sapiens)
  • 400 RGD objects have been annotated to Rod-cone dystrophy  (HP:0000510)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Retinitis pigmentosa
  • Original References(s): PMID:15657609 PMID:16199547 PMID:25616768 PMID:25741868 PMID:28492532 PMID:28795510


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