DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Dystonia ×

Gene: SLC6A8 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6535
Gene Symbol:	SLC6A8

SLC6A8

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.110

GeneticVariation

BEFREE

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

2012