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 AlteredExpression disease BEFREE 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 CausalMutation disease CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550 2011
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 Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation 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 Biomarker disease CLINGEN Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation 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 CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation 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 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 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 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 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 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 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 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 Biomarker disease CLINGEN Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN 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 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 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 UNIPROT Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 16049992 2005
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 Biomarker disease CLINGEN Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655 2003