Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011

Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0036572
Disease: Seizures
Seizures
0.700 GeneticVariation CLINVAR