rs1288483479
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs1288483479
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917762
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917765
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs1288483479
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs28934581
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs80338892
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs80338892
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs80338892
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917762
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917765
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs1288483479
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs28934581
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs80338892
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs80338892
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917762
×
Entrez Id:
7054
Gene Symbol:
TH
TH
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800
GeneticVariation
UNIPROT
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
22815559
2012
rs121917762
×
Entrez Id:
7054
Gene Symbol:
TH
TH
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800
GeneticVariation
UNIPROT
Tyrosine hydroxylase deficiency in Taiwanese infants.
22264700
2012
rs121917762
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800
GeneticVariation
UNIPROT
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
22815559
2012
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
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
rs121917763
×
Entrez Id:
7054
Gene Symbol:
TH
TH
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800
GeneticVariation
UNIPROT
Tyrosine hydroxylase deficiency in Taiwanese infants.
22264700
2012
rs121917765
×
Entrez Id:
7054
Gene Symbol:
TH
TH
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
0.800
GeneticVariation
UNIPROT
Tyrosine hydroxylase deficiency in Taiwanese infants.
22264700
2012