TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group BEFREE DYT1 early-onset generalized torsion dystonia is a hereditary movement disorder characterized by abnormal postures and repeated movements. 31618684 2020
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group BEFREE DYT1 dystonia is a neurological movement disorder that is caused by a loss-of-function mutation in the <i>DYT1</i>/<i>TOR1A</i> gene, which encodes torsinA, a conserved luminal ATPases-associated with various cellular activities (AAA+) protein. 31294022 2019
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group BEFREE DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. 28198698 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE This control mechanism is offset by a TorsinA mutation implicated in the severe movement disorder DYT1 dystonia, suggesting a critical role for the functional Torsin-cofactor interplay <i>in vivo</i>. 28553638 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group BEFREE DYT1 dystonia is a heritable, early-onset generalized movement disorder caused by a GAG deletion (ΔGAG) in the DYT1 gene. 25860259 2015
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 early-onset generalized torsion dystonia is an inherited movement disorder associated with mutations in DYT1 that codes for torsinA protein. 21995941 2012
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 dystonia is an autosomal-dominant movement disorder, characterised by early onset of involuntary sustained muscle contractions. 20590813 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 early-onset generalized torsion dystonia is an inherited movement disorder caused by mutations in DYT1 coding for torsinA with ∼30% penetrance. 20627944 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 dystonia is an autosomal-dominantly inherited movement disorder, which is usually caused by a GAG deletion in the TOR1A gene. 20053375 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 dystonia is an autosomal dominant movement disorder, characterized by early onset of involuntary sustained muscle contractions. 20298201 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group 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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE High resolution melting (HRM) was used to examine the entire TOR1A Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). 19284587 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by involuntary sustained muscle contractions and abnormal posturing of the limbs. 19457118 2009
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. 17105745 2007
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE Dystonia is a common movement disorder.The purpose of this study is to examine the relative distribution of the primary dystonia subtypes and identify mutation (s) in the DYT1 gene in Indian patients. 16911351 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group LHGDN The authors screened 197 patients with dystonia (generalized: n = 5; focal/segmental: n = 126; myoclonus-dystonia: n = 34; neuroleptic-induced: n = 32), 435 with PD, and 42 with various other movement disorders, along with 812 healthy controls, for small deletions in exon 5 of DYT1 and tested for exon rearrangements by quantitative, duplex PCR in 51 GAG deletion-negative dystonia cases. 14872019 2004
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE To investigate the frequency and type of DYT1 mutations and explore the associated phenotypes in a mixed movement disorders patient cohort and in controls. 14872019 2004
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group BEFREE Myoclonus-dystonia is a movement disorder associated with mutations in the epsilon-sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. 12402271 2002