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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Gch1 and dystonia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ichinose H, etal., Nat Genet. 1994 Nov;8(3):236-42.
  • The annotation has been inferred from sequence orthology with GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ichinose H, etal., Nat Genet. 1994 Nov;8(3):236-42.
  • 435 RGD objects have been annotated to dystonia  (DOID:543)
  • 76 papers in RGD have been used to annotate Gch1
  • Curation Notes: dopa-responsive dystonia,OMIM:128230;DNA:point mutations:R88W,D134V


    • An association has been curated linking Gch1 and dystonia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with GCH1 (Homo sapiens) [(EXP) inferred from experiment]
  • 435 RGD objects have been annotated to dystonia  (DOID:543)
  • 76 papers in RGD have been used to annotate Gch1
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:15389992


    • An association has been curated linking Gch1 and dystonia 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 GCH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 435 RGD objects have been annotated to dystonia  (DOID:543)
  • 76 papers in RGD have been used to annotate Gch1
  • Curation Notes: ClinVar Annotator: match by term: Dystonic disorder
  • Original References(s): PMID:16199547 PMID:19491146 PMID:25741868 PMID:28492532 PMID:8619546


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