TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 GeneticVariation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 GeneticVariation 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
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
dbSNP: rs121917765
rs121917765
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 GeneticVariation CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 2015
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 GeneticVariation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 GeneticVariation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 GeneticVariation 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: rs28934581
rs28934581
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs45471299
rs45471299
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 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: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.800 CausalMutation CLINVAR [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241 2014
dbSNP: rs1057516491
rs1057516491
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516712
rs1057516712
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516716
rs1057516716
Entrez Id: 7054;100616126
Gene Symbol: TH;MIR4686
TH;MIR4686
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		CG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516736
rs1057516736
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516819
rs1057516819
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516874
rs1057516874
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) 		C 0.700 GeneticVariation CLINVAR