SLC2A9, solute carrier family 2 member 9, 56606

N. diseases: 74; N. variants: 389
Disease: Pre-renal acute kidney injury ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		0.050 GeneticVariation disease BEFREE A novel homozygous GLUT9 mutation cause recurrent exercise-induced acute renal failure and posterior reversible encephalopathy syndrome. 24643436 2015
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		0.050 GeneticVariation disease BEFREE Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity. 24397858 2014
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		0.050 GeneticVariation disease BEFREE In addition, five nonsynonymous sequence variants and three nonsynonymous sequence variants in SLC2A9 gene were found in two UK patients suffering from acute renal failure. 22132965 2011
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		0.050 GeneticVariation disease BEFREE In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure. 19926891 2010
CUI: C3854173
Disease: Pre-renal acute kidney injury
Pre-renal acute kidney injury 		0.050 Biomarker disease BEFREE Recent identification of the urate transporter in the kidney (URAT1, encoded by SLC22A12) led to the molecular elucidation of idiopathic renal hypouricemia, which is a predisposition toward exercise-induce acute renal failure. 15772829 2005