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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Clcn1 and Charcot-Marie-Tooth disease intermediate type in Mus musculus.        

  • 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 CLCN1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 259 RGD objects have been annotated to Charcot-Marie-Tooth disease intermediate type  (DOID:0050543)
  • 10 papers in RGD have been used to annotate Clcn1
  • Curation Notes: ClinVar Annotator: match by term: Autosomal dominant intermediate Charcot-Marie-Tooth disease
  • Original References(s): PMID:17932099 PMID:18337100 PMID:18337730 PMID:22094069 PMID:22649220 PMID:23739125 PMID:23893571 PMID:24349310 PMID:25741868 PMID:26467025 PMID:28492532 PMID:7581380 PMID:7951215 PMID:8533761 PMID:8571958


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