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: rs80358233
rs80358233
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0013421
Disease:
Dystonia 		T 0.700 CausalMutation CLINVAR The role of DYT1 in primary torsion dystonia in Europe. 9874484 1998
dbSNP: rs80358233
rs80358233
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C0013421
Disease:
Dystonia 		T 0.700 CausalMutation CLINVAR The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. 9288096 1997