SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: GLUT1 DEFICIENCY SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955 2009
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 19901175 2009
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 17052934 2007
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. 15622525 2005
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Autosomal dominant transmission of GLUT1 deficiency. 11136715 2001
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. 10227690 1999
dbSNP: rs1553155986
rs1553155986
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs80359818
rs80359818
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs80359825
rs80359825
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80359825
rs80359825
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs121909738
rs121909738
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation UNIPROT Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 30197081 2018
dbSNP: rs267607059
rs267607059
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation UNIPROT Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 30197081 2018
dbSNP: rs886039517
rs886039517
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation UNIPROT Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 30197081 2018
dbSNP: rs121909738
rs121909738
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation UNIPROT A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 25982116 2015
dbSNP: rs267607059
rs267607059
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C4551966
Disease:
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation UNIPROT A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 25982116 2015