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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PDE6B and congenital stationary night blindness autosomal dominant 2 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 PDE6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital stationary night blindness autosomal dominant 2  (DOID:0110863)
  • 0 papers in RGD have been used to annotate PDE6B


  • An association has been curated linking PDE6B and congenital stationary night blindness autosomal dominant 2 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 PDE6B (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to congenital stationary night blindness autosomal dominant 2  (DOID:0110863)
  • 0 papers in RGD have been used to annotate PDE6B
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
  • Original References(s): PMID:16199547 PMID:17044014 PMID:17576681 PMID:18723146 PMID:22334370 PMID:24033266 PMID:24938718 PMID:25097241 PMID:25741868 PMID:26868535 PMID:27588261 PMID:28041643 PMID:28130426 PMID:28224992 PMID:28492532 PMID:28559085 PMID:28912962 PMID:30029497 PMID:30718709 PMID:30924848 PMID:30998820 PMID:31630094 PMID:31877679 PMID:33090715 PMID:33576794 PMID:33691693 PMID:34906470 PMID:36819107 PMID:7724547 PMID:8075643 PMID:8394174 PMID:8595886 PMID:9536098


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