Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker GENOMICS_ENGLAND An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876

2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker GENOMICS_ENGLAND Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420

2011