DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC ×

Gene: SLC2A1 ×

Results per page

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:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C1832855
Disease:	CHOREOATHETOSIS/SPASTICITY, EPISODIC

CHOREOATHETOSIS/SPASTICITY, EPISODIC

0.710

CausalMutation

CLINVAR

Clinical utility of genetic testing in pediatric drug-resistant epilepsy: a pilot study.

25108116

2014

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C1832855
Disease:	CHOREOATHETOSIS/SPASTICITY, EPISODIC

CHOREOATHETOSIS/SPASTICITY, EPISODIC

0.710

GeneticVariation

CLINVAR