TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Dystonia, Diurnal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		0.300 Biomarker phenotype CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		0.300 Biomarker phenotype CTD_human Behavioural and pharmacological examinations in a transgenic mouse model of early-onset torsion dystonia. 21078339 2011
CUI: C0393610
Disease: Dystonia, Diurnal
Dystonia, Diurnal 		0.300 Biomarker phenotype CTD_human Dopamine D2 receptor dysfunction is rescued by adenosine A2A receptor antagonism in a model of DYT1 dystonia. 20227500 2010