SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553156199
rs1553156199
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		GC 0.700 CausalMutation CLINVAR Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 16217704 2005