TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 Biomarker group BEFREE DYT1 dystonia is a neurological disease caused by a dominant mutation that results in the loss of a glutamic acid in the endoplasmic reticulum-resident protein torsinA. 30366018 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 GeneticVariation group BEFREE Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement. 29127012 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 Biomarker group BEFREE DYT1 dystonia is a neurological disease caused by dominant mutations in the TOR1A gene, encoding for the endoplasmic reticulum (ER)-resident protein torsinA. 29289717 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 Biomarker group BEFREE TorsinA (TorA) is an AAA+ (ATPases associated with diverse cellular activities) ATPase linked to dystonia type 1 (DYT1), a neurological disorder that leads to uncontrollable muscular movements. 28871039 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 GeneticVariation group BEFREE Dystonia type 1 (DYT1) is one of the different forms of inherited dystonia, a neurological disorder characterized by involuntary, disabling movements. 27707963 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.060 Biomarker group BEFREE DYT1 dystonia can be added to the growing list of inherited neurological disorders involving the NE. 15028751 2004