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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking BTBD19 and Charcot-Marie-Tooth disease dominant intermediate C in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
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  • 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:13801857 (Homo sapiens)
  • 183 RGD objects have been annotated to Charcot-Marie-Tooth disease dominant intermediate C  (DOID:0110199)
  • 1 papers in RGD have been used to annotate BTBD19
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C
  • Original References(s): PMID:28492532


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