Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 GeneticVariation group BEFREE Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group. 11113234 2000
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 Biomarker group BEFREE Dopa-responsive dystonia (DRD) is an autosomal dominant disorder typically presenting as dystonia with diurnal variability. 11571350 2001
Entrez Id: 93953
Gene Symbol: GCNA
GCNA 		0.010 Biomarker group BEFREE ACRC codes for a novel nuclear protein with unusual acidic repeat tract and maps to DYT3 (dystonia parkinsonism) critical interval in xq13.1. 11714101 2001
Entrez Id: 667
Gene Symbol: DST
DST 		0.090 Biomarker group BEFREE BPAG1 is also known as a gene responsible for Dystonia musculorum (dt) neurodegeneration syndrome of the mouse. 11751855 2002
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 GeneticVariation group BEFREE Dopa responsive dystonia (DRD) is an autosomal dominant dystonia caused by mutations in the gene GCH1 in about 50% of cases. 11956954 2002
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia appears to be a previously uncharacterized NE disease and the first, to our knowledge, to selectively affect CNS function. 14711988 2004
Entrez Id: 2639
Gene Symbol: GCDH
GCDH 		0.030 Biomarker group BEFREE Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric academia type I (GA-I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate nucleus and putamen. 15318278 2004
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		0.100 Biomarker group BEFREE Pantothenate kinase-associated neurodegeneration (PKAN) causes a progressive generalized dystonia which remains pharmacologically intractable. 15852393 2005
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY 		0.220 Biomarker group BEFREE Caytaxin deficiency causes generalized dystonia in rats. 16246457 2005
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia is caused by a common three-nucleotide deletion in the TOR1A gene that eliminates a glutamic acid residue from the protein torsinA. 16280588 2005
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 Biomarker group BEFREE Dopa-responsive dystonia (DRD) causes dystonia-parkinsonism, which is abolished by levodopa. 16606922 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT-1) is not sufficient to make diagnosis of dystonia. 16722965 2006
Entrez Id: 1621
Gene Symbol: DBH
DBH 		0.010 Biomarker group BEFREE Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinephrine, has been implicated in dystonia because of increased serum levels of DBH in some patients, the influence of catecholaminergic drugs on the human phenotypes, and altered norepinephrine levels in several brain regions in dystonia patients and in genetically dystonic rodents. 1677923 1991
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 GeneticVariation group BEFREE Dopa-responsive dystonia (DRD) may cause early-onset dystonia, with extrapyramidal or pyramidal tract dysfunction. 16908750 2006
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		0.020 GeneticVariation group BEFREE Leucine-rich repeat kinase 2 (LRRK2) mutation carriers can develop clinical symptoms other than typical parkinsonism such as dementia, amyotrophy or dystonia. 17151837 2007
Entrez Id: 8803
Gene Symbol: SUCLA2
SUCLA2 		0.020 GeneticVariation group BEFREE SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 17301081 2007
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		0.010 GeneticVariation group BEFREE TITF-1 mutations should be considered in choreiform movement disorders with onset in infancy even in the presence of dystonia and myoclonic jerks. 17702043 2007
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.100 Biomarker group BEFREE Dopa responsive Dystonia (DRD) was first described in 1971 and typically begins at childhood with gait dysfunction caused by foot dystonia progressing to affect other extremities. 18044725 2008
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		0.400 Biomarker group BEFREE DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. 19157930 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia is transmitted as an autosomal dominant trait with reduced penetrance. 19157930 2009
Entrez Id: 163590
Gene Symbol: TOR1AIP2
TOR1AIP2 		0.020 AlteredExpression group BEFREE LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation. 19339278 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions. 20590813 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia is caused by an autosomal dominant mutation that leads to a glutamic acid deletion in torsinA (TA), a member of the AAA+ ATPase superfamily. 21102408 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 dystonia is caused by a glutamic acid deletion (ΔE) in the endoplasmic reticulum (ER) protein torsinA. 21161590 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.400 Biomarker group BEFREE DYT1 was excluded as the cause of dystonia in this kindred. 21601506 2011