SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: stomatocytic anemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.410 Biomarker disease GENOMICS_ENGLAND An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.410 GeneticVariation disease BEFREE Autosomal dominant overhydrated cation-leak stomatocytosis in humans has been associated with missense mutations in the erythroid membrane transport genes AE1, RhAG, and GLUT1. 22406315 2012
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.410 Biomarker disease GENOMICS_ENGLAND Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.410 Biomarker disease HPO