Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.120 CausalMutation disease CLINVAR
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: 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: 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: 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 UNIPROT Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by viral infections. 15747353 2005
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 GeneticVariation disease UNIPROT Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. 19491146 2009
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN Targeted disruption of the tyrosine hydroxylase locus results in severe catecholamine depletion and perinatal lethality in mice. 7592982 1995
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CLINGEN A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. 7814018 1995
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 UNIPROT Tyrosine hydroxylase deficiency presenting with a biphasic clinical course. 18058633 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 Biomarker disease CLINGEN Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655 2003
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 Biomarker disease CTD_human Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. 8528210 1995
Entrez Id: 7054
Gene Symbol: TH
TH 		0.720 GeneticVariation disease UNIPROT Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
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 Biomarker disease CLINGEN Four novel mutations in the tyrosine hydroxylase gene in patients with infantile parkinsonism. 11246459 2000
Entrez Id: 7054
Gene Symbol: TH
TH 		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
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 Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. 10585338 1999
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 UNIPROT Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. 22815559 2012