Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 CausalMutation CLINVAR

Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 GeneticVariation CLINVAR

Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation 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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency. 26276013

2015
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia. 24753243

2014
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488

2013
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700

2012
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027

2011
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550

2011
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352

2010
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833

2010
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467

2010
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209

2009
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123

2007
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655

2003
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). 10407773

1999
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation 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: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR The role of DYT1 in primary torsion dystonia in Europe. 9874484

1998
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096

1997
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation 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
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR Magnetic stimulation of the nervous system. 2019643

1991
Entrez Id: 7054
Gene Symbol: TH
TH
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation CLINVAR

Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation CLINVAR

Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 CausalMutation CLINVAR