DisGeNET - a database of gene-disease associations

SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76

Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC ×

Variant: rs387907312 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387907312

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C1832855
Disease:

CHOREOATHETOSIS/SPASTICITY, EPISODIC

0.800

GeneticVariation

UNIPROT

EFNS guidelines on diagnosis and treatment of primary dystonias.

20482602

2011

dbSNP:

rs387907312

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C1832855
Disease:

CHOREOATHETOSIS/SPASTICITY, EPISODIC

0.800

CausalMutation

CLINVAR