SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 687; N. variants: 76
Disease: Stomatocytosis Result ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype GENOMICS_ENGLAND An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype GENOMICS_ENGLAND Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype HPO