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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Cacna1f and Aland Island eye disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with CACNA1F (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Aland Island eye disease  (DOID:0050630)
  • 20 papers in RGD have been used to annotate Cacna1f


    • An association has been curated linking Cacna1f and Aland Island eye disease in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Jalkanen R, etal., Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103.
  • 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 Jalkanen R, etal., Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103.
  • 3 RGD objects have been annotated to Aland Island eye disease  (DOID:0050630)
  • 20 papers in RGD have been used to annotate Cacna1f
  • Curation Notes: DNA:deletion:exon:


    • An association has been curated linking Cacna1f and Aland Island eye disease 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]
  • 3 RGD objects have been annotated to Aland Island eye disease  (DOID:0050630)
  • 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 Aland Island eye disease 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]
  • 3 RGD objects have been annotated to Aland Island eye disease  (DOID:0050630)
  • 20 papers in RGD have been used to annotate Cacna1f
  • Curation Notes: ClinVar Annotator: match by term: Ocular albinism, type II
  • Original References(s): PMID:11281458 PMID:11941481 PMID:14230113 PMID:16199547 PMID:17525176 PMID:22183355 PMID:22194652 PMID:24124559 PMID:25307992 PMID:25741868 PMID:26747767 PMID:26992781 PMID:28002560 PMID:28341476 PMID:28492532 PMID:28838317 PMID:30718709 PMID:30825406 PMID:9662399


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