rs776095655, SLC2A1

N. diseases: 8
Disease: GLUT1 DEFICIENCY SYNDROME 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
0.700 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
0.700 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011