Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Cnga3 and Achromatopsia 1 in Rattus norvegicus.        

  • 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)
  • 22 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)


  • Go Back to source page   Continue to Ontology report