Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. 11523564 2001
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. 16537570 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND Biallelic TOR1A variants in an infant with severe arthrogryposis. 28516161 2017
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. 18827015 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. 27490483 2016
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. 15505207 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the more prevalent and diverse presentations of late onset, focal dystonia has been suggested. 19955557 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1. 18477710 2008
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. 16361107 2006
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early onset dystonia protein torsinA interacts with kinesin light chain 1. 14970196 2004
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. 20169475 2010
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. 17428918 2007
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease UNIPROT CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process. 21102408 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease MGD Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. 21464304 2011
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease MGD Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. 16242683 2005
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 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 		0.900 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 		0.900 Biomarker disease MGD Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. 26183317 2015
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease MGD Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model. 23748075 2013
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease CLINVAR
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. 10627938 1999