Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502811
rs727502811
TOR1A
0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs727502811
rs727502811
TOR1A
0.810 GeneticVariation BEFREE Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 18477710

2008
dbSNP: rs727502811
rs727502811
TOR1A
T 0.810 CausalMutation CLINVAR

dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia. 27490483

2016
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 25403864

2014
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process. 21102408

2011
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR Genetic and clinical features of primary torsion dystonia. 21168499

2011
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. 19955557

2010
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. 20169475

2010
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355

2008
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 18477710

2008
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. 18827015

2008
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. 17428918

2007
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. 16361107

2006
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation 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
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT The early onset dystonia protein torsinA interacts with kinesin light chain 1. 14970196

2004
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. 10435508

1999
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation 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
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR The molecular genetics of the dystonias. 9576529

1998
dbSNP: rs267607134
rs267607134
TOR1A
0.700 GeneticVariation UNIPROT The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096

1997
dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 CausalMutation CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096

1997
dbSNP: rs760768475
rs760768475
TOR1A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs80358233
rs80358233
TOR1A
T 0.700 GeneticVariation CLINVAR