Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		0.400 Biomarker phenotype GENOMICS_ENGLAND Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia. 20022530 2010
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		0.400 Biomarker phenotype GENOMICS_ENGLAND Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. 16049940 2005
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		0.400 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		0.300 Biomarker phenotype CTD_human Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 27992417 2017
Entrez Id: 55145
Gene Symbol: THAP1
THAP1 		0.300 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1 		0.300 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.300 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 2774
Gene Symbol: GNAL
GNAL 		0.300 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10 		0.300 Biomarker phenotype CTD_human Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. 22926781 2012
Entrez Id: 84947
Gene Symbol: SERAC1
SERAC1 		0.300 Biomarker phenotype CTD_human Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. 22683713 2012
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.300 Biomarker phenotype CTD_human Behavioural and pharmacological examinations in a transgenic mouse model of early-onset torsion dystonia. 21078339 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.300 Biomarker phenotype CTD_human Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. 20227500 2010
Entrez Id: 1137
Gene Symbol: CHRNA4
CHRNA4 		0.300 Biomarker phenotype CTD_human Altered fast- and slow-twitch muscle fibre characteristics in female mice with a (S248F) knock-in mutation of the brain neuronal nicotinic acetylcholine receptor. 19404753 2009
Entrez Id: 1565
Gene Symbol: CYP2D6
CYP2D6 		0.300 Biomarker phenotype CTD_human Acute dystonic reaction to metoclopramide in patients carrying homozygous cytochrome P450 2D6 genetic polymorphisms. 16702617 2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.300 Biomarker phenotype CTD_human A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006
Entrez Id: 6342
Gene Symbol: SCP2
SCP2 		0.300 Biomarker phenotype CTD_human Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. 16685654 2006
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.300 Biomarker phenotype CTD_human Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. 15260953 2004
Entrez Id: 7054
Gene Symbol: TH
TH 		0.300 Biomarker phenotype CTD_human Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. 15505183 2004
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.300 Biomarker phenotype CTD_human Amantadine for levodopa-induced choreic dyskinesia in compound heterozygotes for GCH1 mutations. 15389992 2004
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3 		0.300 Biomarker phenotype CTD_human
Entrez Id: 63982
Gene Symbol: ANO3
ANO3 		0.300 Biomarker phenotype CTD_human
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.300 Biomarker phenotype CTD_human
Entrez Id: 25953
Gene Symbol: PNKD
PNKD 		0.110 GeneticVariation phenotype BEFREE In addition, six other dystonia gene loci have been mapped to chromosomal regions, including a locus for a mixed dystonia phenotype (DYT6), one form of focal dystonia (DYT7), two types of paroxysmal dystonia (DYT8, DYT9), X-linked dystonia-parkinsonism (DYT3), and rapid-onset dystonia parkinsonism (DYT12). 12194383 1999
Entrez Id: 25953
Gene Symbol: PNKD
PNKD 		0.110 Biomarker phenotype HPO
Entrez Id: 25953
Gene Symbol: PNKD
PNKD 		0.110 CausalMutation phenotype CLINVAR