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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Slc25a44 and Charcot-Marie-Tooth disease type 2 in Chinchilla lanigera.        

  • 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 SLC25A44 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 249 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2  (DOID:0050539)
  • 1 papers in RGD have been used to annotate Slc25a44
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2
  • Original References(s): PMID:18585512 PMID:18926329 PMID:28492532 PMID:29845577


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