Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 Biomarker disease CLINGEN An Indian Family with Tyrosine Hydroxylase Deficiency. 28667724 2017
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC. 27934587 2016
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Human gene-centered transcription factor networks for enhancers and disease variants. 25910213 2015
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study. 25758715 2015
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease UNIPROT Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 Biomarker disease CLINGEN Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 CausalMutation disease CLINVAR [Tyrosine hydroxylase deficiency: a case of autosomal recessive dopa-responsive dystonia]. 25224241 2014
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 CausalMutation disease CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243 2014
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 CausalMutation disease CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease UNIPROT GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients. 23762320 2013
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease CLINVAR Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 GeneticVariation disease UNIPROT A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. 21940685 2012
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
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
Entrez Id: 7054
Gene Symbol: TH
TH
0.720 CausalMutation disease CLINVAR Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
Entrez Id: 7054
Gene Symbol: TH
TH
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