SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Allelic variations of glut-1 deficiency syndrome: the chinese experience. 22704013 2012
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR """Benign"" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency." 21865127 2011
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
dbSNP: rs776095655
rs776095655
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Role of conserved arginine and glutamate residues on the cytosolic surface of glucose transporters for transporter function. 9335548 1997