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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking CACNA1F and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Wutz K, etal., Eur J Hum Genet 2002 Aug;10(8):449-56.
  • 2 additional annotations were made from Wutz K, etal., Eur J Hum Genet 2002 Aug;10(8):449-56.
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F


    • An association has been curated linking CACNA1F 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
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 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 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:13435175 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:28041643 PMID:9662400


    • An association has been curated linking CACNA1F and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
  • The annotation has been inferred from sequence orthology with Cacna1f (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
  • 13 additional annotations were made from Gu Y, etal., Mol Vis. 2008 Jan 9;14:20-8.
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 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 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:8562598 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:9662400


    • An association has been curated linking CACNA1F 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:8562596 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 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:17525176 PMID:22194652 PMID:24124559 PMID:25741868 PMID:26992781 PMID:28041643 PMID:28492532 PMID:9662399


    • An association has been curated linking CACNA1F 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:21070698 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking CACNA1F 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:21404891 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 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:17525176 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26992781 PMID:28492532 PMID:30825406 PMID:9662399


    • An association has been curated linking CACNA1F 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:14397396|RGD:28887000 (Homo sapiens) & RGD:14397396|RGD:28887000 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:25741868


    • An association has been curated linking CACNA1F 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:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens) & RGD:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens) & RGD:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens) & RGD:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens) & RGD:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens) & RGD:21404889|RGD:21404890|RGD:21404893|RGD:21404895|RGD:21404898|RGD:21404902 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness


    • An association has been curated linking CACNA1F 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:21404899 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:12111638 PMID:17949918 PMID:28492532 PMID:31456290 PMID:31651202


    • An association has been curated linking CACNA1F 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:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens) & RGD:13434985|RGD:13434992|RGD:13435036|RGD:13435043|RGD:13435088|RGD:13435144|RGD:13435181|RGD:13435220 (Homo sapiens)
  • 33 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 11 papers in RGD have been used to annotate CACNA1F
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:28041643


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