Source: UNIPROT
Gene: TH
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| Gene | Disease | Score gda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.720 | GeneticVariation | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
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0.720 | GeneticVariation | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
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0.720 | GeneticVariation | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
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0.720 | GeneticVariation | UNIPROT | From 1999 to May 2011, we enrolled six infants who had been diagnosed with tyrosine hydroxylase deficiency by identifying point mutations on the tyrosine hydroxylase gene. | 22264700 | 2012 |
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0.720 | GeneticVariation | UNIPROT | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
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0.720 | GeneticVariation | UNIPROT | 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 |
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0.720 | GeneticVariation | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
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0.720 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. | 20430833 | 2010 |
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0.720 | GeneticVariation | UNIPROT | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. | 19491146 | 2009 |
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0.720 | GeneticVariation | UNIPROT | Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. | 18554280 | 2008 |
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0.720 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. | 18058633 | 2007 |
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0.720 | GeneticVariation | UNIPROT | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 |
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0.720 | GeneticVariation | UNIPROT | Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. | 15747353 | 2005 |
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0.720 | GeneticVariation | UNIPROT | Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. | 16049992 | 2005 |
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0.720 | GeneticVariation | UNIPROT | Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. | 15505183 | 2004 |
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0.720 | GeneticVariation | UNIPROT | Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. | 11196107 | 2000 |
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0.720 | GeneticVariation | UNIPROT | Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. | 11246459 | 2000 |
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0.720 | GeneticVariation | UNIPROT | Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. | 10585338 | 1999 |
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0.720 | GeneticVariation | UNIPROT | A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. | 9703425 | 1998 |
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0.720 | GeneticVariation | UNIPROT | Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease. | 9613851 | 1998 |
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0.720 | GeneticVariation | UNIPROT | Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. | 8817341 | 1996 |
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0.720 | GeneticVariation | UNIPROT | A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. | 7814018 | 1995 |
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0.720 | GeneticVariation | UNIPROT | Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. | 8528210 | 1995 |