×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
18554280 2008
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
21940685 2012
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
CLINVAR
Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
24753243 2014
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
CLINVAR
From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene.
22264700 2012
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
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
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
11196107 2000
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
CLINVAR
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
20430833 2010
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.
23762320 2013
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
7814018 1995
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
CLINVAR
Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese.
20056467 2010
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
CLINVAR
Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.
25758715 2015
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.
20430833 2010
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
8528210 1995
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.
9613851 1998
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
GeneticVariation
disease
UNIPROT
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
11246459 2000
×
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.120
GeneticVariation
disease
BEFREE
Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1 ) deficiency or autosomal recessive tyrosine hydroxylase deficiency .18345435 2007
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice.
7592982 1995
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome.
7814018 1995
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
12891655 2003
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CTD_human
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene.
8528210 1995
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism.
11246459 2000
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population.
9703425 1998
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CTD_human
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
8817341 1996
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id: 7054
Gene Symbol: TH
TH
0.720
Biomarker
disease
CLINGEN
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
20198643 2010