Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7054
Gene Symbol: TH
TH 		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
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 AlteredExpression disease BEFREE 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
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 Biomarker disease BEFREE Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2004
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 GeneticVariation disease BEFREE Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP cyclohydrolase 1 (GCH1) deficiency or autosomal recessive tyrosine hydroxylase deficiency. 18345435 2007
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.010 Biomarker disease BEFREE Variations in solute carrier family 6A, member 3 (SLC6A3/DAT1), the human gene encoding DAT, have been implicated in attention deficit hyperactivity and bipolar disorders, and DAT is a prominent site of action for drugs such as amphetamines and cocaine.In this issue of the JCI, Kurian et al. report that an autosomal recessive infantile parkinsonism-dystonia is caused by loss-of-function mutations in DAT that impair dopamine reuptake (see the related article beginning on page 1595). 19504720 2009
Entrez Id: 5617
Gene Symbol: PRL
PRL 		0.010 Biomarker disease BEFREE Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis. 28667724 2017
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 A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. 17698383 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Structure/function relationship of the cAMP response element in tyrosine hydroxylase gene transcription. 9235905 1997
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
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 CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		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
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. 20198643 2010
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 CLINVAR Human gene-centered transcription factor networks for enhancers and disease variants. 25910213 2015
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 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 CLINVAR Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. 11160968 2001
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 CausalMutation disease CLINVAR A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the Dutch population. 9703425 1998
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 treatable disorder of brain catecholamine biosynthesis. 20430833 2010
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