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: rs387907312
rs387907312
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3149117
Disease:
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011