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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Cacna1f and congenital stationary night blindness in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Wutz K, etal., Eur J Hum Genet 2002 Aug;10(8):449-56.
  • The annotation has been inferred from sequence orthology with CACNA1F (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Wutz K, etal., Eur J Hum Genet 2002 Aug;10(8):449-56.
  • 29 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 20 papers in RGD have been used to annotate Cacna1f


  • An association has been curated linking Cacna1f and congenital stationary night blindness in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with CACNA1F (Homo sapiens) [(EXP) inferred from experiment]
  • 29 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 20 papers in RGD have been used to annotate Cacna1f
  • Curation Notes: CTD Direct Evidence: marker/mechanism


  • An association has been curated linking Cacna1f and congenital stationary night blindness in Rattus norvegicus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
  •  
  • The annotation was made from Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
  • 13 additional annotations were made from Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
  • 29 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 20 papers in RGD have been used to annotate Cacna1f
  • Curation Notes: DNA:mutation:cds: c.2941C>T (rat)


  • An association has been curated linking Cacna1f and congenital stationary night blindness in Rattus norvegicus.        

  • 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 CACNA1F (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 29 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 20 papers in RGD have been used to annotate Cacna1f
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:11281458 PMID:12111638 PMID:17525176 PMID:17949918 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:30825406 PMID:31456290 PMID:31651202 PMID:9662399 PMID:9662400


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