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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking MPZ and Charcot-Marie-Tooth disease type 2J in Canis lupus familiaris.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 0 papers in RGD have been used to annotate MPZ


  • An association has been curated linking MPZ and Charcot-Marie-Tooth disease type 2J 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 MPZ (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2J  (DOID:0110157)
  • 0 papers in RGD have been used to annotate MPZ
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
  • Original References(s): PMID:10071056 PMID:10329755 PMID:10764043 PMID:10835936 PMID:10923043 PMID:11080237 PMID:11545686 PMID:12207153 PMID:12402337 PMID:12805115 PMID:12845552 PMID:12911457 PMID:12948789 PMID:14711881 PMID:15004559 PMID:15159512 PMID:15241803 PMID:15326256 PMID:15377707 PMID:16279991 PMID:16775239 PMID:17663472 PMID:18337304 PMID:19629567 PMID:19928689 PMID:20461396 PMID:22433810 PMID:25614874 PMID:25720167 PMID:25741868 PMID:26234237 PMID:26310628 PMID:26467025 PMID:28492532 PMID:29465609 PMID:29687021 PMID:31211173 PMID:31827005 PMID:33179255 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091


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