Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. | 20830593 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. | 21204808 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. | 20129935 | 2010 |
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|
0.800 | 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 |
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|
0.800 | GeneticVariation | UNIPROT | Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. | 20574033 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. | 19630075 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. | 19798636 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. | 18451999 | 2008 |
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|
0.800 | GeneticVariation | UNIPROT | GLUT-1 deficiency without epilepsy--an exceptional case. | 14605501 | 2003 |
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|
AT | 0.800 | CausalMutation | CLINVAR |