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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mfn2 and Charcot-Marie-Tooth Disease, Type 2A in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Zuchner S, etal., Nat Genet. 2004 May;36(5):449-51. Epub 2004 Apr 4.
  • The annotation has been inferred from sequence orthology with MFN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Zuchner S, etal., Nat Genet. 2004 May;36(5):449-51. Epub 2004 Apr 4.
  • 5 RGD objects have been annotated to Charcot-Marie-Tooth Disease, Type 2A  (DOID:9008563)
  • 81 papers in RGD have been used to annotate Mfn2
  • Curation Notes: DNA:missense mutations:cds:multiple (human)


  • An association has been curated linking Mfn2 and Charcot-Marie-Tooth Disease, Type 2A in Rattus norvegicus.        

  • 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 MFN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to Charcot-Marie-Tooth Disease, Type 2A  (DOID:9008563)
  • 81 papers in RGD have been used to annotate Mfn2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A | ClinVar Annotator: match by term: HMSN IIA
  • Original References(s): PMID:16043786 PMID:18316077 PMID:18458227 PMID:20008656 PMID:20350294 PMID:20482598 PMID:22492563 PMID:24033266 PMID:24126688 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:28251916 PMID:28414270 PMID:28492532 PMID:29358271 PMID:30158064 PMID:33415332 PMID:33502018


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