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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Mpz and Charcot-Marie-Tooth disease type 4E 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 MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Charcot-Marie-Tooth disease type 4E  (DOID:0110195)
  • 2 papers in RGD have been used to annotate Mpz
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E | ClinVar Annotator: match by term: Hypomyelination, severe congenital
  • Original References(s): PMID:10737979 PMID:11545686 PMID:12805115 PMID:12807974 PMID:12845552 PMID:12953275 PMID:15094849 PMID:15241803 PMID:17468193 PMID:19454582 PMID:20456450 PMID:23342407 PMID:24033266 PMID:25741868 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29687021 PMID:33179255 PMID:7527371 PMID:8664899 PMID:9187667


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