TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs121917765
rs121917765
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
dbSNP: rs28934581
rs28934581
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT 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 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)
0.800 GeneticVariation UNIPROT 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 [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241 2014
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 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 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)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 2013
dbSNP: rs121917765
rs121917765
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 2013
dbSNP: rs1288483479
rs1288483479
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 2013
dbSNP: rs28934581
rs28934581
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 2013
dbSNP: rs80338892
rs80338892
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 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 Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012
dbSNP: rs121917762
rs121917762
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685 2012
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685 2012
dbSNP: rs121917763
rs121917763
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012
dbSNP: rs121917765
rs121917765
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C2673535
Disease:
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012