SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.300 GermlineCausalMutation disease ORPHANET Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1 		0.300 GermlineCausalMutation disease ORPHANET Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009