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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking GJB1 and Charcot-Marie-Tooth disease type 3 in Sus scrofa.        

  • 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 GJB1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 10 RGD objects have been annotated to Charcot-Marie-Tooth disease type 3  (DOID:0050540)
  • 0 papers in RGD have been used to annotate GJB1
  • Curation Notes: ClinVar Annotator: match by term: Dejerine-Sottas disease
  • Original References(s): PMID:10737979 PMID:15241803 PMID:15947997 PMID:20301548 PMID:25741868 PMID:28492532 PMID:9633821


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