Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.430 GeneticVariation phenotype BEFREE Mutations in the GCH1 gene, encoding GTP cyclohydrolase 1, the enzyme critically important for dopamine production in nigrostriatal neurons, are the most common cause of dopa-responsive dystonia (DRD), characterized predominantly by limb dystonia, although parkinsonian features may also be present. 27731537 2017
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.430 Biomarker phenotype BEFREE Dopa-responsive dystonia, a rare disorder typically presenting in early childhood with lower limb dystonia and gait abnormality, responds well to levodopa. 25181484 2014
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.430 GeneticVariation phenotype BEFREE A classic phenotype of young-onset lower-limb dystonia, diurnal fluctuations and excellent response to levodopa has been well recognised in association with GCH1 mutations, and rare atypical presentations have been reported. 19332422 2009
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.430 Biomarker phenotype CTD_human Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. 15389992 2004
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.430 Biomarker phenotype HPO