TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Machado-Joseph Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.010 GeneticVariation disease BEFREE Examples of dystonia that is responsive to dopaminergic drugs include the following: transportopathies (dopamine transporter deficiency; vesicular monoamine transporter 2 deficiency); <i>SOX6</i> mutation resulting in a developmentally decreased number of nigral cells; degenerative disorders with progressive loss of nigral cells (juvenile Parkinson's disease; pallidopyramidal syndrome; spinocerebellar ataxia type 3), and disorders that are not known to affect the nigrostriatal dopaminergic system (DYT1; GLUT1 deficiency; myoclonus-dystonia; ataxia telangiectasia). 29983692 2018