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: C0752208
Disease: Pseudodystonia
Pseudodystonia
0.310 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752208
Disease: Pseudodystonia
Pseudodystonia
0.310 GeneticVariation disease BEFREE Phenotypic variability of DYT1-PTD: does the clinical spectrum include psychogenic dystonia? 12360559 2002