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 | Biomarker | disease | CLINGEN | Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. | 30383639 | 2018 |
|
0.720 | Biomarker | disease | CLINGEN | An Indian Family with Tyrosine Hydroxylase Deficiency. | 28667724 | 2017 |
|
0.720 | GeneticVariation | disease | CLINVAR | Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis. | 28087438 | 2017 |
|
0.720 | Biomarker | disease | 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 |
|
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 | Human gene-centered transcription factor networks for enhancers and disease variants. | 25910213 | 2015 |
|
0.720 | Biomarker | disease | 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 |
|
0.720 | GeneticVariation | disease | CLINVAR | Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. | 25758715 | 2015 |
|
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 | Biomarker | disease | CLINGEN | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
|
0.720 | GeneticVariation | disease | CLINVAR | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
|
0.720 | CausalMutation | disease | CLINVAR | [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. | 25224241 | 2014 |
|
0.720 | CausalMutation | disease | CLINVAR | Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. | 24753243 | 2014 |
|
0.720 | CausalMutation | disease | CLINVAR | Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. | 23480488 | 2013 |
|
0.720 | GeneticVariation | disease | CLINVAR | Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. | 23480488 | 2013 |
|
0.720 | GeneticVariation | disease | UNIPROT | GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. | 23762320 | 2013 |
|
0.720 | GeneticVariation | disease | UNIPROT | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
|
0.720 | GeneticVariation | disease | CLINVAR | Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. | 22815559 | 2012 |
|
0.720 | CausalMutation | disease | CLINVAR | 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 | 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 | A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. | 21940685 | 2012 |
|
0.720 | GeneticVariation | disease | CLINVAR | 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 | Biomarker | disease | 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 |
|
0.720 | CausalMutation | disease | CLINVAR | Deep sequencing reveals 50 novel genes for recessive cognitive disorders. | 21937992 | 2011 |
|
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 |