Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593

2011
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033

2010
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935

2010
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801

2010
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808

2010
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636

2009
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075

2009
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999

2008
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.700 GeneticVariation UNIPROT GLUT-1 deficiency without epilepsy--an exceptional case. 14605501

2003