SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Myoclonic Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.300 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.300 Biomarker phenotype CTD_human Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C4317123
Disease: Myoclonic Seizures
Myoclonic Seizures 		0.300 Biomarker phenotype CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998