TH, tyrosine hydroxylase, 7054
N. diseases: 321; N. variants: 71
Source: ALL
Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year |
---|---|---|---|---|---|---|---|
|
0.720 | GeneticVariation | disease | UNIPROT | Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. | 15747353 | 2005 |
|
0.720 | GeneticVariation | disease | UNIPROT | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
|
0.720 | GeneticVariation | disease | UNIPROT | Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. | 19491146 | 2009 |
|
0.720 | GeneticVariation | disease | CLINVAR | A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. | 17698383 | 2007 |
|
0.720 | GeneticVariation | disease | UNIPROT | Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. | 18058633 | 2007 |
|
0.720 | GeneticVariation | disease | CLINVAR | Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. | 9235905 | 1997 |
|
0.720 | GeneticVariation | disease | UNIPROT | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 |
|
0.720 | GeneticVariation | disease | UNIPROT | Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. | 20056467 | 2010 |
|
0.720 | GeneticVariation | disease | CLINVAR | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 |
|
0.720 | GeneticVariation | disease | UNIPROT | A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. | 9703425 | 1998 |
|
0.720 | GeneticVariation | disease | UNIPROT | Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. | 10585338 | 1999 |
|
0.720 | GeneticVariation | disease | CLINVAR | Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. | 20198643 | 2010 |
|
0.720 | GeneticVariation | disease | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
|
0.720 | GeneticVariation | disease | CLINVAR | Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. | 8817341 | 1996 |
|
0.720 | GeneticVariation | disease | UNIPROT | Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. | 15505183 | 2004 |
|
0.720 | GeneticVariation | disease | CLINVAR | Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. | 23480488 | 2013 |
|
0.720 | GeneticVariation | disease | 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 |
|
0.720 | GeneticVariation | disease | BEFREE | Four mutations in the TyrH gene have recently been described in cases of autosomal recessive DOPA-responsive dystonia (Swaans et al., Ann Hum Genet 2000;64:25-31). | 15468323 | 2005 |
|
0.720 | GeneticVariation | disease | CLINVAR | Human gene-centered transcription factor networks for enhancers and disease variants. | 25910213 | 2015 |
|
0.720 | GeneticVariation | disease | CLINVAR | Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. | 27934587 | 2016 |
|
0.720 | GeneticVariation | disease | CLINVAR | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
|
0.720 | GeneticVariation | disease | UNIPROT | Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency. | 16049992 | 2005 |
|
0.720 | GeneticVariation | disease | CLINVAR | Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. | 11160968 | 2001 |
|
0.720 | GeneticVariation | disease | 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 |
|
0.720 | GeneticVariation | disease | UNIPROT | Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. | 8817341 | 1996 |