rs1553156053, SLC2A1

N. diseases: 3
Disease: Overgrowth ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
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
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Mutational and functional analysis of Glucose transporter I deficiency syndrome. 26304067 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494 2015
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458 2013
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 20687207 2010
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955 2009
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. 12752470 2003
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 10766892 2000
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 CausalMutation CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544 1991