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 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 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 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 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 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 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 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 CLINGEN Association of stomatin (band 7.2b) with Glut1 glucose transporter. 10562431 1999
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 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 GeneticVariation disease CLINVAR