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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking LOC489516 and Charcot-Marie-Tooth disease type 1 in Canis lupus familiaris.        

  • 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 HS3ST3B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 60 RGD objects have been annotated to Charcot-Marie-Tooth disease type 1  (DOID:0050538)
  • 0 papers in RGD have been used to annotate LOC489516
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I
  • Original References(s): PMID:12207933 PMID:1303230 PMID:1677316 PMID:1822787 PMID:20493460 PMID:20739940 PMID:22190321 PMID:28492532


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