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 GeneticVariation disease CLINVAR
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 GeneticVariation disease BEFREE The clinical features of prominent cranial involvement and impaired speech distinguish this "non-DYT1" early-onset ITD family from the typical DYT1 phenotype. 7845403 1994
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 CausalMutation disease CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR The molecular genetics of the dystonias. 9576529 1998
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		0.900 CausalMutation disease CLINVAR GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. 10435508 1999
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
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.010 GeneticVariation disease BEFREE Mutations in a gene coding for an ATP-binding protein were detected in idiopathic torsion dystonia (DYT1), and the GTP cyclohydrolase 1 gene is mutated in dopa-responsive dystonia (DYT5). 10737119 1998
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 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 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 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 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 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 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 GeneticVariation disease BEFREE Cranial involvement was present in 49% of non-DYT1 cases, but only 14% of DYT1 cases; non-DYT1 patients were younger at time of generalization. 16773641 2006
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 The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355 2008
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 BEFREE 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 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 Biomarker disease BEFREE 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 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: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.010 Biomarker disease BEFREE Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivo. 20132487 2010