Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients. 23211702

2013
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population. 20491893

2011
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. 20082337

2010
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. 20108370

2010
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 19332422

2009
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. 11486899

2001
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystonia. 10984670

2000
dbSNP: rs988395114
rs988395114
GCH1
T 0.700 CausalMutation CLINVAR Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. 8852666

1996