rs121917765, TH
N. diseases: 1
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
|---|---|---|---|---|---|---|---|
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency in Taiwanese infants. | 22264700 | 2012 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. | 18058633 | 2007 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. | 16049992 | 2005 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. | 15747353 | 2005 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. | 15505183 | 2004 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. | 11196107 | 2000 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. | 11246459 | 2000 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. | 10585338 | 1999 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. | 9703425 | 1998 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. | 9613851 | 1998 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. | 8817341 | 1996 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. | 8528210 | 1995 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | GeneticVariation | UNIPROT | A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. | 7814018 | 1995 | |
|
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)
|
0.800 | CausalMutation | CLINVAR |