SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201815571
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: rs201815571
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
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: rs201815571
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