TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
0.310 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752197
Disease: Adult-Onset Dystonias
Adult-Onset Dystonias
0.310 GeneticVariation disease BEFREE We propose that differential pathophysiological and compensatory mechanisms lead to brain structure changes in non-DYT1 primary adult-onset dystonias and DYT1 gene carriers. 19344776 2009