Gene: SLC2A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN C-terminal truncated glucose transporter is locked into an inward-facing form without transport activity. 2348864 1990
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN Developmental regulation of rat brain/Hep G2 glucose transporter gene expression. 2710134 1989
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CTD_human GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. 9462754 1998
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease BEFREE These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1. 10227690 1999
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease BEFREE A GLUT-1 defect results in the Glucose-Transporter-Protein Syndrome (GTPS), characterized by infantile epilepsy, developmental delay, and acquired microcephaly. 10323476 1999
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN Association of stomatin (band 7.2b) with Glut1 glucose transporter. 10562431 1999
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease BEFREE We refer to this condition as the Glut-1 Deficiency Syndrome (Glut-1 DS). 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CTD_human We refer to this condition as the Glut-1 Deficiency Syndrome (Glut-1 DS). 10980529 2000
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease BEFREE Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro. 11477212 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease BEFREE To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS). 12752470 2003
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE Impaired glucose transport across the blood-brain barrier results in Glut-1 deficiency syndrome (Glut-1 DS, OMIM 606777), characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and hypoglycorrhachia. 15622525 2005
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia. 16497725 2006
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia. 16497725 2006
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE In this study, the protein products of the Glut1DS-associated GLUT1 missense mutations, S66F, R126C, and T295M, were characterized using the Glut1-green fluorescent protein (GFP) fusion expressed in CHO cells. 17052934 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CTD_human The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777). 17489814 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE The deletion of the GLUT1 gene was in line with the abnormal ratio of cerebrospinal fluid (CSF) glucose to blood glucose, indicative of GLUT1 deficiency syndrome (MIM #606777). 17489814 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. 17718830 2007
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 Biomarker disease CLINGEN GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. 18451999 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 CausalMutation disease CLINVAR Paroxysmal movement disorders in GLUT1 deficiency syndrome. 18606970 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE Glucose transporter type 1 (Glut1) deficiency syndrome (Glut1 DS, OMIM: #606777) is characterized by infantile seizures, acquired microcephaly, developmental delay, hypoglycorrhachia (CSF glucose <40 mg/dL), and decreased erythrocyte glucose uptake (56.1 +/- 17% of control). 18614966 2008
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 AlteredExpression disease BEFREE Emphasis is placed on transgenic GLUT1 overexpression and null mutant model systems, the latter serving as surrogates for the human GLUT1 deficiency syndrome. 19690067 2009
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.800 GeneticVariation disease BEFREE GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission. 20221955 2009