Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GermlineCausalMutation disease ORPHANET
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease CTD_human
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease BEFREE Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency? 16267845 2006
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR A novel missense mutation in GTP cyclohydrolase I (GCH1) gene causes Dopa-responsive dystonia in Chinese Han population. 20491893 2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GeneticVariation disease CLINVAR A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia. 10457396 1999
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping. 11486899 2001
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 6697
Gene Symbol: SPR
SPR 		0.010 Biomarker disease BEFREE All these conditions can be identified in newborns by an elevated phenylalanine, with the exception of sepiapterin reductase and the dominant form of GTP cyclohydrolase I deficiency that results in biopterin deficiency/insufficiency only in the brain. 19234759 2009
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease GENOMICS_ENGLAND Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms. 18276179 2008
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. 19332422 2009
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GeneticVariation disease BEFREE Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 7730309 1995
Entrez Id: 60491
Gene Symbol: NIF3L1
NIF3L1 		0.030 GeneticVariation disease BEFREE Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. 7730309 1995
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. 9749603 1998
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. 8852666 1996
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease GENOMICS_ENGLAND Dopa-responsive dystonia with a novel initiation codon mutation in the GCH1 gene misdiagnosed as cerebral palsy. 21935284 2011
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GeneticVariation disease UNIPROT Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. 9667588 1998
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146 2009
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian Patients. 27246466 2017
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR Frequency of GCH1 deletions in Dopa-responsive dystonia. 17898029 2008
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR GCH1 mutation and clinical study of Chinese patients with dopa-responsive dystonia. 20108370 2010
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GeneticVariation disease UNIPROT GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. 7501255 1995
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 CausalMutation disease CLINVAR GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. 8619546 1996
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 GeneticVariation disease 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
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.750 Biomarker disease GENOMICS_ENGLAND Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. 7874165 1994