Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320

2013

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685

2012

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559

2012

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123

2007

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 18058633

2007

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. 16049992

2005

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. 15747353

2005

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183

2004

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. 11196107

2000

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459

2000

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338

1999

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. 9613851

1998

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425

1998

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. 8817341

1996

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 7814018

1995

dbSNP: rs745551241
rs745551241
TH
0.700 GeneticVariation UNIPROT Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 8528210

1995