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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking ELP1 and Charcot-Marie-Tooth disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8597028 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 10 papers in RGD have been used to annotate ELP1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:10090896 PMID:12687659 PMID:18091349 PMID:18197058 PMID:22975760 PMID:29290691


    • An association has been curated linking ELP1 and Charcot-Marie-Tooth disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8597027 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 10 papers in RGD have been used to annotate ELP1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11179008 PMID:11179021 PMID:12116234 PMID:22975760 PMID:25741868 PMID:28492532 PMID:29289840


    • An association has been curated linking ELP1 and Charcot-Marie-Tooth disease in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:8597026 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 10 papers in RGD have been used to annotate ELP1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:11179008 PMID:11179021 PMID:12116234 PMID:16964593 PMID:17206408 PMID:17576681 PMID:20301359 PMID:22190446 PMID:22850346 PMID:23515154 PMID:24033266 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29762696 PMID:9536098


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