DisGeNET - a database of gene-disease associations

SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76

Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 ×

Variant: rs398123069 ×

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:

rs398123069

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs398123069

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT