Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.700 CausalMutation phenotype CLINVAR
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype CLINVAR Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 23480488 2013
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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: 1861
Gene Symbol: TOR1A
TOR1A 		0.500 CausalMutation phenotype CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.500 CausalMutation phenotype CLINVAR
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.500 CausalMutation phenotype CLINVAR
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2. 20492352 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype CLINVAR Tyrosine hydroxylase deficiency with severe clinical course. 19282209 2009
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Tyrosine hydroxylase deficiency in Taiwanese infants. 22264700 2012
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. 12891655 2003
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Magnetic stimulation of the nervous system. 2019643 1991
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype 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 		0.500 CausalMutation phenotype CLINVAR Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. 20430833 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. 20823027 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. 20056467 2010
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. 21465550 2011
Entrez Id: 7054
Gene Symbol: TH
TH 		0.500 CausalMutation phenotype CLINVAR Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. 17696123 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.500 CausalMutation phenotype CLINVAR The role of DYT1 in primary torsion dystonia in Europe. 9874484 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.450 CausalMutation phenotype CLINVAR
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17 		0.410 CausalMutation phenotype CLINVAR Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome. 26612766 2016
Entrez Id: 83636
Gene Symbol: C19orf12
C19orf12 		0.410 CausalMutation phenotype CLINVAR