Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894445
rs104894445
GCH1
T 0.800 CausalMutation CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466

2017
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Frequency of GCH1 deletions in Dopa-responsive dystonia. 17898029

2008
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. 16917893

2006
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. 15753436

2005
dbSNP: rs104894435
rs104894435
GCH1
T 0.800 CausalMutation CLINVAR Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894435
rs104894435
GCH1
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894443
rs104894443
GCH1
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894445
rs104894445
GCH1
0.800 GeneticVariation UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588

1998
dbSNP: rs104894435
rs104894435
GCH1
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255

1995
dbSNP: rs104894443
rs104894443
GCH1
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255

1995
dbSNP: rs104894445
rs104894445
GCH1
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255

1995
dbSNP: rs104894443
rs104894443
GCH1
T 0.800 CausalMutation CLINVAR

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: rs1418922853
rs1418922853
GCH1
T 0.700 GeneticVariation CLINVAR Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18-bp deletion within the proximal GCH1 promoter. 20842687

2011
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: rs1555358507
rs1555358507
GCH1
T 0.700 CausalMutation CLINVAR Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146

2009
dbSNP: rs1555360050
rs1555360050
GCH1
G 0.700 CausalMutation CLINVAR Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146

2009
dbSNP: rs1555360050
rs1555360050
GCH1
T 0.700 CausalMutation CLINVAR Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146

2009
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: rs1555358507
rs1555358507
GCH1
T 0.700 CausalMutation CLINVAR Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia. 17101830

2006
dbSNP: rs1566687244
rs1566687244
GCH1
T 0.700 GeneticVariation CLINVAR High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. 15753436

2005
dbSNP: rs1418922853
rs1418922853
GCH1
T 0.700 GeneticVariation CLINVAR GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. 15303002

2004
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