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GENE - TERM ANNOTATION REPORT

40 Annotations Found.

An association has been curated linking CNGB3 and Achromatopsia 1 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.
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: DNA:deletion: :c.1148delC (human)


  • An association has been curated linking CNGB3 and Achromatopsia 1 in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
  • The annotation has been inferred from sequence orthology with Cngb3 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 5 additional annotations were made from Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3


  • An association has been curated linking CNGB3 and Achromatopsia 1 in Homo sapiens.        

  • The association was inferred from mutant phenotype (IMP)
  •  
  • The annotation was made from Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
  • 5 additional annotations were made from Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Qualifier: treatment


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11543357 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:15712225 PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11599012 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:9688624 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15174269 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:15712225 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15194224 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:9692819 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:23776498 PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • 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:30718709 PMID:32860008 PMID:33546218 PMID:36909829


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:8558559 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:15712225 PMID:25474149 PMID:26106334 PMID:28492532 PMID:28795510


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15164429 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11655600 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11600890 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11547114 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11543811 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11638731 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11604838 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15128096 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11547664 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11603168 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:28909691 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:8646947 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15163053 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:15177431 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11552417 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:28868149 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11545138 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28795510


  • An association has been curated linking CNGB3 and Achromatopsia 1 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)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • 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 Achromatopsia 1 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:15129351 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:8642841 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11635937 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11643914 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11606868 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11605712 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11603570 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11604089 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11606164 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:11549655 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


  • An association has been curated linking CNGB3 and Achromatopsia 1 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:9688338 (Homo sapiens)
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 10 papers in RGD have been used to annotate CNGB3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:25741868 PMID:28492532


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