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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Egr2 and Charcot-Marie-Tooth disease 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 EGR2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 658 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 14 papers in RGD have been used to annotate Egr2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:10369870 PMID:10371530 PMID:10502832 PMID:10762521 PMID:11239949 PMID:11523566 PMID:11545686 PMID:11734543 PMID:12471219 PMID:12609493 PMID:15241803 PMID:15947997 PMID:16198564 PMID:17717711 PMID:20301384 PMID:20513111 PMID:21149811 PMID:22271166 PMID:22546699 PMID:22734907 PMID:22765307 PMID:25720245 PMID:25741868 PMID:26467025 PMID:27013732 PMID:27159987 PMID:27164712 PMID:27422849 PMID:28492532 PMID:30843326 PMID:31673878 PMID:31919945 PMID:32376792 PMID:32896048 PMID:34169998


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