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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking RAB17 and Bethlem Myopathy 1A in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:156443083|RGD:405872217 (Homo sapiens) & RGD:156443083|RGD:405872217 (Homo sapiens)
  • 79 RGD objects have been annotated to Bethlem Myopathy 1A  (DOID:9001550)
  • 2 papers in RGD have been used to annotate RAB17
  • Curation Notes: ClinVar Annotator: match by term: Bethlem myopathy 1A
  • Original References(s): PMID:26004199 PMID:28492532


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