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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking TH and Generalized 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:11551726 (Homo sapiens)
  • 35 RGD objects have been annotated to Generalized dystonia  (HP:0007325)
  • 49 papers in RGD have been used to annotate TH
  • Curation Notes: ClinVar Annotator: match by term: Generalized dystonia
  • Original References(s): PMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30455893 PMID:35083481


    • An association has been curated linking TH and Generalized 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 human HPO-to-gene-to-disease annotations
  • 35 RGD objects have been annotated to Generalized dystonia  (HP:0007325)
  • 49 papers in RGD have been used to annotate TH
  • Original References(s): ORPHA:101150


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