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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking SLC24A1 and congenital stationary night blindness 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:11617672 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 9 papers in RGD have been used to annotate SLC24A1
  • Curation Notes: ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
  • Original References(s): PMID:28492532


    • An association has been curated linking SLC24A1 and congenital stationary night blindness 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:11652134 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 9 papers in RGD have been used to annotate SLC24A1
  • Curation Notes: ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive


    • An association has been curated linking SLC24A1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 9 papers in RGD have been used to annotate SLC24A1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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