SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: GLUT1 DEFICIENCY SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease CLINVAR
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN Developmental regulation of rat brain/Hep G2 glucose transporter gene expression. 2710134 1989
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity. 2348864 1990
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN Association of stomatin (band 7.2b) with Glut1 glucose transporter. 10562431 1999
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome. 10227690 1999
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome. 10980529 2000
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Autosomal dominant transmission of GLUT1 deficiency. 11136715 2001
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Imaging the metabolic footprint of Glut1 deficiency on the brain. 12325075 2002
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects. 15622525 2005
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN A mouse model for Glut-1 haploinsufficiency. 16497725 2006
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Disease-associated Glut1 single amino acid substitute mutations S66F, R126C, and T295M constitute Glut1-deficiency states in vitro. 17052934 2007
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. 18577546 2008
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease CLINGEN GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999 2008
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. 19798636 2009
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Autosomal recessive inheritance of GLUT1 deficiency syndrome. 20221955 2009
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome. 19901175 2009
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. 20129935 2010
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency. 20574033 2010
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. 21832227 2011