rs1553156053, SLC2A1

N. diseases: 3
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
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 Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour. 26336901 2016
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Mutational and functional analysis of Glucose transporter I deficiency syndrome. 26304067 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR From splitting GLUT1 deficiency syndromes to overlapping phenotypes. 26193382 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
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
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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 The clinical and genetic heterogeneity of paroxysmal dyskinesias. 26598494 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
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 Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. 24963779 2014
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
0.700 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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 The role of SLC2A1 in early onset and childhood absence epilepsies. 23306390 2013
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 CausalMutation CLINVAR Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). 23443458 2013
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
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