rs727502811
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.810
GeneticVariation
UNIPROT
EFNS guidelines on diagnosis and treatment of primary dystonias.
20482602
2011
rs727502811
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.810
GeneticVariation
BEFREE
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1 ).
18477710
2008
rs727502811
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.810
CausalMutation
CLINVAR
rs1182
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
Prostate carcinoma
A
0.700
GeneticVariation
GWASCAT
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
29892016
2018
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
Structures of TorsinA and its disease-mutant complexed with an activator reveal the molecular basis for primary dystonia.
27490483
2016
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
25403864
2014
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process.
21102408
2011
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
Genetic and clinical features of primary torsion dystonia.
21168499
2011
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.
19955557
2010
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro.
20169475
2010
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
The dystonia-associated protein torsinA modulates synaptic vesicle recycling.
18167355
2008
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1).
18477710
2008
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.
18827015
2008
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells.
17428918
2007
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics.
16361107
2006
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
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
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
The early onset dystonia protein torsinA interacts with kinesin light chain 1.
14970196
2004
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
10435508
1999
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
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
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
Dystonia
T
0.700
CausalMutation
CLINVAR
The role of DYT1 in primary torsion dystonia in Europe.
9874484
1998
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
The molecular genetics of the dystonias.
9576529
1998
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
0.700
GeneticVariation
UNIPROT
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
9288096
1997
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
Dystonia
T
0.700
CausalMutation
CLINVAR
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
9288096
1997
rs80358233
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
T
0.700
CausalMutation
CLINVAR
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
9288096
1997
rs267607134
×
Entrez Id:
1861
Gene Symbol:
TOR1A
TOR1A
DYSTONIA 1, TORSION, LATE-ONSET
T
0.700
CausalMutation
CLINVAR