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 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
CUI: C0013421
Disease: Dystonia
Dystonia 		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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype BEFREE These results indicate that tyrosine hydroxylase in the nigrostriatal dopamine neurons may be most sensitive to tetrahydrobiopterin deficiency causing dystonia. 9205791 1997
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism. 9182249 1996
CUI: C0013421
Disease: Dystonia
Dystonia 		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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation phenotype CLINVAR Magnetic stimulation of the nervous system. 2019643 1991
CUI: C0013421
Disease: Dystonia
Dystonia 		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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype CLINVAR