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: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.020 Biomarker phenotype BEFREE We conclude that aberrant opioid transmission is unlikely to be present in DYT1-PTD and altered opioid transmission is not a common mechanism underlying all disorders of involuntary movement. 15390064 2004
CUI: C0427086
Disease: Involuntary Movements
Involuntary Movements
0.020 Biomarker phenotype BEFREE The MF pattern was present in DYT1 carriers with and without clinical manifestations and persisted in DYT1 dystonia patients in whom involuntary movements were suppressed by sleep. 9749595 1998