TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. 19955557 2010
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355 2008
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 18477710 2008
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
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
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT The early onset dystonia protein torsinA interacts with kinesin light chain 1. 14970196 2004
dbSNP: rs267607134
rs267607134
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.700 GeneticVariation UNIPROT The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997