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: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.100 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611

2018
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901

2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Mutational and functional analysis of Glucose transporter I deficiency syndrome. 26304067

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 CausalMutation CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 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: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutational and functional analysis of Glucose transporter I deficiency syndrome. 26304067

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382

2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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: C1849265
Disease: Overgrowth
Overgrowth 		0.100 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390

2013
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 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: C0856863
Disease: Broad-based gait
Broad-based gait 		0.100 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: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876

2012