Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.330 GeneticVariation phenotype BEFREE Patients with the dystonia plus syndrome DYT5 display levodopa-responsive dystonia sometimes associated with tremor or parkinsonism (DYT5a, mutations in GCH1); a more severe phenotype with psychomotor involvement can be seen in recessive forms (DYT5b with TH mutations, SPR-deficiency syndrome). 22166420 2012
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.330 Biomarker phenotype CTD_human Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. 15389992 2005
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.330 GeneticVariation phenotype BEFREE To investigate the range of clinical features to correlate genotypic and phenotypic manifestations in hereditary progressive and/or levodopa-responsive dystonia due to a defect in the guanosine triphosphate-cyclohydrolase (GCH1) gene. 11346370 2001
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.330 Biomarker phenotype BEFREE Dopa-responsive dystonia (DRD) is a disease in which a deficiency of tetrahydrobiopterin, or, less commonly, of tyrosine hydroxylase, results in levodopa-responsive dystonia with parkinson features in children. 10830421 2000