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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking RETREG1 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:10054549 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 4 papers in RGD have been used to annotate RETREG1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:24327336


  • An association has been curated linking RETREG1 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:8555560 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 4 papers in RGD have been used to annotate RETREG1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:19838196 PMID:25741868


  • An association has been curated linking RETREG1 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:8566868 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 4 papers in RGD have been used to annotate RETREG1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:19838196 PMID:25741868 PMID:28492532 PMID:31737055 PMID:33199694 PMID:35332675


  • An association has been curated linking RETREG1 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:8555562|RGD:8566869 (Homo sapiens) & RGD:8555562|RGD:8566869 (Homo sapiens)
  • 875 RGD objects have been annotated to Charcot-Marie-Tooth disease  (DOID:10595)
  • 4 papers in RGD have been used to annotate RETREG1
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease
  • Original References(s): PMID:19838196


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