rs1451506414, SLC22A12

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.020 GeneticVariation BEFREE A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia. 21935282 2011
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.020 GeneticVariation BEFREE The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia. 18492088 2008
Kidney Failure, Acute
CUI: C0022660
Disease: Kidney Failure, Acute
0.010 GeneticVariation BEFREE We here described a 25-yr-old man showing idiopathic renal hypouricemia with G774A mutation in SCL22A12 who presented exercise-induced acute renal failure. 21935282 2011
Pre-renal acute kidney injury
CUI: C3854173
Disease: Pre-renal acute kidney injury
0.010 GeneticVariation BEFREE We here described a 25-yr-old man showing idiopathic renal hypouricemia with G774A mutation in SCL22A12 who presented exercise-induced acute renal failure. 21935282 2011
Hypouricemia
CUI: C0221333
Disease: Hypouricemia
0.010 GeneticVariation BEFREE These data are consistent with a recent finding that this G774A mutation was also predominant in Koreans with hypouricemia and indicate that the mutation originated on the Asian continent. 18492088 2008