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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Cnga3 and Achromatopsia 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Reuter P, etal., Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.
  • The annotation has been inferred from sequence orthology with CNGA3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Reuter P, etal., Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 12 papers in RGD have been used to annotate Cnga3
  • Curation Notes: DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)


    • An association has been curated linking Cnga3 and Achromatopsia 1 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • 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 from sequence orthology with CNGA3 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to Achromatopsia 1  (DOID:9003656)
  • 12 papers in RGD have been used to annotate Cnga3
  • Curation Notes: ClinVar Annotator: match by term: Rod monochromatism
  • Original References(s): PMID:11536077 PMID:14757870 PMID:17693388 PMID:23972307 PMID:25741868 PMID:28492532 PMID:30418171 PMID:30682209 PMID:32913385 PMID:9662398


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