TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Idiopathic familial dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Cerebellar synaptogenesis is compromised in mouse models of DYT1 dystonia. 26183317 2015
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia. 24121114 2014
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Abnormal cytoplasmic calcium dynamics in central neurons of a dystonia mouse model. 23748075 2013
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Cerebellothalamocortical pathway abnormalities in torsinA DYT1 knock-in mice. 21464304 2011
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. 16364897 2005
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Generation and characterization of Dyt1 DeltaGAG knock-in mouse as a model for early-onset dystonia. 16242683 2005