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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Tyr and ocular albinism in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Fukai K, etal., Nat Genet. 1995 Jan;9(1):92-5.
  • The annotation has been inferred from sequence orthology with TYR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Fukai K, etal., Nat Genet. 1995 Jan;9(1):92-5.
  • 9 RGD objects have been annotated to ocular albinism  (DOID:0050633)
  • 34 papers in RGD have been used to annotate Tyr
  • Curation Notes: DNA:mutations:cds:p.R402Q,p.S192Y(human)


  • An association has been curated linking Tyr and ocular albinism 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 TYR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to ocular albinism  (DOID:0050633)
  • 34 papers in RGD have been used to annotate Tyr


  • An association has been curated linking Tyr and ocular albinism 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 TYR (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 9 RGD objects have been annotated to ocular albinism  (DOID:0050633)
  • 34 papers in RGD have been used to annotate Tyr
  • Curation Notes: ClinVar Annotator: match by term: Ocular albinism
  • Original References(s): PMID:25741868


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