Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease MGD Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. 26183317 2015
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE Characteristic GAG deletion in DYT1 consistently with the diagnosis of torsion dystonia was confirmed in 1 case. 24949445 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease MGD Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia. 24121114 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref.5), have been identified. 23222958 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia. 23460578 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease MGD Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model. 23748075 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Also, patients with leg or arm onset at a younger age are more likely to be DYT1-positive among primary torsion dystonia cases. 22487959 2012
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Our findings highlight the sustained benefit from DBS and the importance of early referral for DBS in children with medically refractory DYT1 primary torsion dystonia, which can lead to improved long-term benefits. 22811083 2012
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE A DYT1 mutation is the most common genetic cause of early-onset primary torsion dystonia. 22622408 2012
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). 22266882 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease MGD Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. 21464304 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). 20925076 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are associated with early-onset autosomal dominant torsion dystonia. 19028553 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE DYT1 mutations in early onset primary torsion dystonia and Parkinson disease patients in Chinese populations. 19038309 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Early onset (DYT1) torsion dystonia is a dominantly inherited movement disorder associated with a three-base pair (DeltaGAG) deletion that removes a glutamic acid residue from the protein torsinA. 19651773 2009
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE The only known genetic cause of early-onset primary torsion dystonia is the GAG deletion in the DYT1 gene. 18571468 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE Over the last two decades an increasing number of genetic causes have been identified, including an important genetic cause for early-onset primary torsion dystonia (PTD): a GAG deletion in exon 5 of DYT1, a gene that encodes torsinA. 18267263 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 17503336 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease LHGDN Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. 17503336 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE DYT1 primary torsion dystonia is an autosomal dominant disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. 17539945 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature. 16773641 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE Most cases of early-onset primary torsion dystonia are caused by the same 3-bp (GAG) deletion in the DYT1 gene. 17027035 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease BEFREE Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. 16874761 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 Biomarker disease MGD Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. 16364897 2005
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
0.400 GeneticVariation disease BEFREE To determine whether reduced striatal D2 receptor binding reported in patients with idiopathic torsion dystonia is associated with the genotype, the authors used PET and [11C]-raclopride to assess non-manifesting carriers of the DYT1 mutation. 15668438 2005