DisGeNET - a database of gene-disease associations

Dystonia, C0013421

Variant: rs80358233 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80358233

rs80358233

TOR1A

T

0.700

CausalMutation

CLINVAR

The role of DYT1 in primary torsion dystonia in Europe.

1998

dbSNP:

rs80358233

rs80358233

TOR1A

T

0.700

CausalMutation

CLINVAR

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

1997