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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PDE6H and retinal cone dystrophy 3A in Canis lupus familiaris.        

  • 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 PDE6H (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to retinal cone dystrophy 3A  (DOID:0081025)
  • 0 papers in RGD have been used to annotate PDE6H


    • An association has been curated linking PDE6H and retinal cone dystrophy 3A in Canis lupus familiaris.        

  • 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 PDE6H (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to retinal cone dystrophy 3A  (DOID:0081025)
  • 0 papers in RGD have been used to annotate PDE6H
  • Curation Notes: ClinVar Annotator: match by term: Retinal cone dystrophy 3A
  • Original References(s): PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532


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