SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
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: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1
0.800 GeneticVariation UNIPROT Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 30197081 2018
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1
0.800 GeneticVariation UNIPROT A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 25982116 2015
dbSNP: rs397514564
rs397514564
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 GeneticVariation UNIPROT A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 25982116 2015
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1
0.800 GeneticVariation UNIPROT Crystal structure of the human glucose transporter GLUT1. 24847886 2014
dbSNP: rs397514564
rs397514564
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 GeneticVariation UNIPROT GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. 22282645 2012
dbSNP: rs397514564
rs397514564
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C3553859
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
0.800 GeneticVariation UNIPROT Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. 23280796 2012
dbSNP: rs864309514
rs864309514
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1837206
Disease:
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
0.800 GeneticVariation UNIPROT An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
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: rs387907312
rs387907312
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1832855
Disease:
CHOREOATHETOSIS/SPASTICITY, EPISODIC
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602 2011
dbSNP: rs864309514
rs864309514
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C1837206
Disease:
Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
0.800 GeneticVariation UNIPROT Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 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