Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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A | 0.700 | CausalMutation | CLINVAR | Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. | 26336901 | 2016 |
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A | 0.700 | CausalMutation | CLINVAR | Mutational and functional analysis of Glucose transporter I deficiency syndrome. | 26304067 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | From splitting GLUT1 deficiency syndromes to overlapping phenotypes. | 26193382 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | The clinical and genetic heterogeneity of paroxysmal dyskinesias. | 26598494 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. | 26537434 | 2015 |
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A | 0.700 | CausalMutation | CLINVAR | Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. | 24963779 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). | 23443458 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | The role of SLC2A1 in early onset and childhood absence epilepsies. | 23306390 | 2013 |
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A | 0.700 | CausalMutation | CLINVAR | An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. | 22492876 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. | 23280796 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. | 21832227 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. | 21555602 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. | 21791420 | 2011 |
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A | 0.700 | CausalMutation | CLINVAR | Glut1 deficiency: inheritance pattern determined by haploinsufficiency. | 20687207 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. | 20129935 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | Autosomal recessive inheritance of GLUT1 deficiency syndrome. | 20221955 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. | 19798636 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. | 18577546 | 2008 |
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A | 0.700 | CausalMutation | CLINVAR | Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. | 12752470 | 2003 |
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A | 0.700 | CausalMutation | CLINVAR | A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. | 10766892 | 2000 |
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A | 0.700 | CausalMutation | CLINVAR | Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. | 1714544 | 1991 |