SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: DYSTONIA 18 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801 2010
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. 19630075 2009
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation BEFREE We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. 18451999 2008
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT We screened 4 additional families, in which PED is combined with epilepsy, developmental delay, or migraine, but not with hemolysis or echinocytosis, and identified 2 additional GLUT1 mutations (A275T, G314S) that decreased glucose transport but did not affect cation permeability. 18451999 2008
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.810 GeneticVariation UNIPROT GLUT-1 deficiency without epilepsy--an exceptional case. 14605501 2003
dbSNP: rs121909739
rs121909739
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
dbSNP: rs267607060
rs267607060
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
dbSNP: rs267607061
rs267607061
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. 20830593 2011
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801 2010
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
dbSNP: rs121909740
rs121909740
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. 20621801 2010
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
dbSNP: rs202060209
rs202060209
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
dbSNP: rs267607060
rs267607060
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency. 21204808 2010
dbSNP: rs267607060
rs267607060
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1842534
Disease:
DYSTONIA 18 (disorder) 		0.800 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010