Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. 15747353 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 UNIPROT Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146 2009
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 17698383 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 18058633 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. 9235905 1997
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 GeneticVariation disease UNIPROT Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338 1999
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease 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 		0.720 GeneticVariation disease UNIPROT Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2004
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Autosomal recessive mutations in the TH gene cause impaired TH activity and are associated with phenotypes ranging from autosomal recessive dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. 23939262 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease BEFREE Four mutations in the TyrH gene have recently been described in cases of autosomal recessive DOPA-responsive dystonia (Swaans et al., Ann Hum Genet 2000;64:25-31). 15468323 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Human gene-centered transcription factor networks for enhancers and disease variants. 25910213 2015
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. 27934587 2016
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 16049992 2005
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. 11160968 2001
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT 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 UNIPROT Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341 1996