SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Disease: Global developmental delay ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.440 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011