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 ×

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:

rs397514564

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

25982116

2015

dbSNP:

rs397514564

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

22282645

2012

dbSNP:

rs397514564

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

23280796

2012

dbSNP:

rs397514564

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

19798636

2009

dbSNP:

rs13306758

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

CLINVAR

dbSNP:

rs13306758

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

dbSNP:

rs13306758

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs387907313

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387907313

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs397514564

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

SusceptibilityMutation

CLINVAR

dbSNP:

rs398123069

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.800

GeneticVariation

UNIPROT

dbSNP:

rs142986731

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

25982116

2015

dbSNP:

rs201815571

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

25982116

2015

dbSNP:

rs796053272

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

CausalMutation

CLINVAR

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

25108116

2014

dbSNP:

rs142986731

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

22282645

2012

dbSNP:

rs142986731

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

23280796

2012

dbSNP:

rs201815571

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

23280796

2012

dbSNP:

rs201815571

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

22282645

2012

dbSNP:

rs142986731

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

19798636

2009

dbSNP:

rs201815571

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

19798636

2009

dbSNP:

rs1187210267

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1557646867

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

CausalMutation

CLINVAR

dbSNP:

rs796053248

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

CausalMutation

CLINVAR

dbSNP:

rs80359825

Entrez Id:	6513
Gene Symbol:	SLC2A1

SLC2A1

CUI:	C3553859
Disease:

EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12

0.700

CausalMutation

CLINVAR