TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727502811
rs727502811
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.810 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602 2011
dbSNP: rs727502811
rs727502811
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		0.810 GeneticVariation BEFREE Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). 18477710 2008
dbSNP: rs727502811
rs727502811
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
CUI: C1851945
Disease:
DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT 		T 0.810 CausalMutation CLINVAR