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 Autosomal dominant transmission of GLUT1 deficiency. 11136715 2001
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 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 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 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 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 CLINVAR