Gene: TH ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209

2009
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655

2003
dbSNP: rs121917763
rs121917763
TH
0.710 GeneticVariation BEFREE The phenotype of AR-DRD with the Leu205Pro mutation in the TH gene, which produces a severe decrease in TH activity to 1.5% of that of the wild type, was severe, not dystonia/Segawa's syndrome, but early-onset parkinsonism. 10661862

1999
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996
dbSNP: rs121917763
rs121917763
TH
G 0.710 CausalMutation CLINVAR Magnetic stimulation of the nervous system. 2019643

1991
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. 28087438

2017
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. 26276013

2015
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
T 0.700 CausalMutation CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550

2011
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027

2011
dbSNP: rs771610752
rs771610752
TH
A 0.700 CausalMutation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352

2010
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
T 0.700 CausalMutation CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123

2007
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 10407773

1999
dbSNP: rs80338892
rs80338892
TH
T 0.700 CausalMutation CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998
dbSNP: rs121917762
rs121917762
TH
T 0.700 GeneticVariation CLINVAR

dbSNP: rs45471299
rs45471299
TH
A 0.700 GeneticVariation CLINVAR