TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. 17428918 2007
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions. 25403864 2014
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		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
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		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
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 Biomarker disease MGD Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia. 24121114 2014
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		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
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT The dystonia-associated protein torsinA modulates synaptic vesicle recycling. 18167355 2008
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT The early onset dystonia protein torsinA interacts with kinesin light chain 1. 14970196 2004
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT The early-onset torsion dystonia-associated protein, torsinA, displays molecular chaperone activity in vitro. 20169475 2010
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 CausalMutation disease CLINVAR The molecular genetics of the dystonias. 9576529 1998
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1. 18477710 2008
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease BEFREE The sequence change described here may be a novel pathogenic mutation of TOR1A in DYT1. 18477710 2008
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease UNIPROT TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton. 18827015 2008
CUI: C1851945
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.900 GeneticVariation disease BEFREE We report here different assays useful in determining various parameters of cell migration in DYT1 patient cells as a consequence of the TOR1A gene mutation, including a microfluidic platform, which provides a means to evaluate real-time vectorial movement with single cell resolution in a three-dimensional environment. 24880044 2014