Source: CLINGEN
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 | Biomarker | CLINGEN | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. | 30383639 | 2018 |
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0.720 | Biomarker | CLINGEN | An Indian Family with Tyrosine Hydroxylase Deficiency. | 28667724 | 2017 |
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0.720 | Biomarker | CLINGEN | He underwent genetic testing which revealed a homozygous variant mutation in the TH gene (p.Thr494Met) leading to a diagnosis of autosomal recessive tyrosine hydroxylase deficiency. | 29225908 | 2017 |
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0.720 | Biomarker | CLINGEN | Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to complex encephalopathy with perinatal onset, termed type B. | 26276013 | 2015 |
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0.720 | Biomarker | CLINGEN | 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 | Biomarker | CLINGEN | 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 | Biomarker | CLINGEN | Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. | 21465550 | 2011 |
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0.720 | Biomarker | CLINGEN | Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. | 20198643 | 2010 |
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0.720 | Biomarker | CLINGEN | Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. | 17696123 | 2007 |
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0.720 | Biomarker | CLINGEN | A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. | 17698383 | 2007 |
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0.720 | Biomarker | CLINGEN | Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. | 12891655 | 2003 |
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0.720 | Biomarker | CLINGEN | Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. | 11160968 | 2001 |
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0.720 | Biomarker | CLINGEN | Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. | 11246459 | 2000 |
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0.720 | Biomarker | CLINGEN | A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. | 11281275 | 2000 |
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0.720 | Biomarker | CLINGEN | 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 | Biomarker | CLINGEN | Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice. | 7592982 | 1995 |
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0.720 | Biomarker | CLINGEN | A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. | 7814018 | 1995 |
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0.720 | Biomarker | CLINGEN | Conversion of L-tyrosine to 3,4-dihydroxyphenylalanine by cell-free preparations of brain and sympathetically innervated tissues. | 5836553 | 1964 |