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 UNIPROT A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. 25982116 2015
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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 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 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
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 Crystal structure of the human glucose transporter GLUT1. 24847886 2014
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 Biomarker disease GENOMICS_ENGLAND A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia. 27725288 2016
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 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 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 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 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 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 CLINGEN A mouse model for Glut-1 haploinsufficiency. 16497725 2006
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 GeneticVariation disease UNIPROT Autosomal dominant transmission of GLUT1 deficiency. 11136715 2001
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 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 GeneticVariation disease CLINVAR
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
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
GLUT1 DEFICIENCY SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Mutations in Disordered Regions Can Cause Disease by Creating Dileucine Motifs. 30197081 2018
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