rs1553155986, SLC2A1

N. diseases: 6
Disease: DYSTONIA 18 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
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
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075 2009
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999 2008
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
0.700 GeneticVariation UNIPROT GLUT-1 deficiency without epilepsy--an exceptional case. 14605501 2003