Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Mutational and functional analysis of Glucose transporter I deficiency syndrome. 26304067

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 26537434

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779

2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420

2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602

2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227

2011
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935

2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Glut1 deficiency: inheritance pattern determined by haploinsufficiency. 20687207

2010
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636

2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955

2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546

2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. 12752470

2003
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. 10766892

2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.200 CausalMutation CLINVAR Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. 1714544

1991