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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Rab27a and Griscelli syndrome 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 RAB27A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to Griscelli syndrome  (DOID:0060831)
  • 18 papers in CRRD have been used to annotate Rab27a
  • Curation Notes: ClinVar Annotator: match by term: Griscelli disease


  • An association has been curated linking Rab27a and Griscelli syndrome 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 RAB27A (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 CRRD objects have been annotated to Griscelli syndrome  (DOID:0060831)
  • 18 papers in CRRD have been used to annotate Rab27a
  • Curation Notes: ClinVar Annotator: match by term: Griscelli disease
  • Original References(s): PMID:10835631, PMID:16551969, PMID:18350256, PMID:19953648, PMID:24033266, PMID:26684649


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.