Gene: TH ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype CLINVAR
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR 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 		0.500 CausalMutation phenotype CLINVAR A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 10407773 1999
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype BEFREE Autosomal recessive forms of infantile dystonia due to mutations in the tyrosine hydroxylase (TH) gene have been described recently. 15747353 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 Biomarker phenotype BEFREE Because of its key regulatory role in central and peripheral catecholamine synthesis, TH is associated with the pathogenesis of several neurological and psychiatric diseases, including Parkinson's disease, dystonia, schizophrenia, affective disorders, and cardiovascular diseases. 23537934 2013
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. 26276013 2015
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype BEFREE Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein. 15468323 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype LHGDN Effects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein. 15468323 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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 		0.500 GeneticVariation phenotype BEFREE GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism. 9182249 1996
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype BEFREE It has been suggested that a form of inherited dystonia responsive to levodopa might be due to an abnormality of tyrosine hydroxylase gene. 2565377 1989
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 Biomarker phenotype CTD_human Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2004
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Magnetic stimulation of the nervous system. 2019643 1991
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype BEFREE Missense mutation in both alleles of the TH gene is known to cause dopamine-related phenotypes, including dystonia and infantile Parkinsonism. 20809526 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 GeneticVariation phenotype LHGDN Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. 18554280 2008
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 Biomarker phenotype BEFREE Our results suggest that the interaction of tyrosine hydroxylase and mutant torsinA may contribute to the phenotype and reported dopaminergic dysfunction in torsinA-mediated dystonia. 19761814 2009
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR 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 		0.500 GeneticVariation phenotype 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