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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Sdhc and Charcot-Marie-Tooth disease type 4E 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 SDHC (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)
  • 15 papers in RGD have been used to annotate Sdhc
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4E
  • Original References(s): PMID:19454582, PMID:24033266, PMID:25741868


  • An association has been curated linking Sdhc and Charcot-Marie-Tooth disease type 4E 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 SDHC (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)
  • 15 papers in RGD have been used to annotate Sdhc
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelination, severe congenital
  • Original References(s): PMID:12807974, PMID:17468193, PMID:23342407


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.