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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking PEX6 and Paroxysmal dystonia 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:38457403 (Homo sapiens)
  • 24 RGD objects have been annotated to Paroxysmal dystonia  (HP:0002268)
  • 6 papers in RGD have been used to annotate PEX6
  • Curation Notes: ClinVar Annotator: match by term: Paroxysmal dystonia
  • Original References(s): PMID:25741868


    • An association has been curated linking PEX6 and Paroxysmal dystonia 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:13782572 (Homo sapiens)
  • 24 RGD objects have been annotated to Paroxysmal dystonia  (HP:0002268)
  • 6 papers in RGD have been used to annotate PEX6
  • Curation Notes: ClinVar Annotator: match by term: Paroxysmal dystonia
  • Original References(s): PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598


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