TH, tyrosine hydroxylase, 7054

N. diseases: 321; N. variants: 71
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5. 20425035 2010
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype LHGDN Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. 18554280 2008