TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Dystonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1476648522
rs1476648522
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0013421
Disease:
Dystonia 		0.010 GeneticVariation BEFREE In the case cohort, we identified a rare 5'-UTR variant (c.-39G > T), a rare splice-region variant (c.445-8T > C), as well as one novel (p.Ile231Asn) and two rare (p.Ala163Val, p.Thr321Met) missense variants, each in a single patient with adult-onset focal/segmental isolated dystonia. 27477622 2016