DisGeNET - a database of gene-disease associations

Dystonia 6, torsion (disorder), C1414216

Variant: rs1563644456 ×

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:

rs1563644456

THAP1

0.700

CausalMutation

CLINVAR

Truncating mutations in THAP1 define the nuclear localization signal.

21495072

2011

dbSNP:

rs1563644456

THAP1

0.700

CausalMutation

CLINVAR

Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.

20865765

2010

dbSNP:

rs1563644456

THAP1

0.700

CausalMutation

CLINVAR

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

19345147

2009