Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 GeneticVariation disease BEFREE Novel URAT1 mutations caused acute renal failure after exercise in two Chinese families with renal hypouricemia. 23043931 2013
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 Biomarker disease BEFREE Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family. 19189137 2009
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 GeneticVariation disease BEFREE The patient had compound heterozygous mutations in the hURAT1 gene (R90H and W258X), but showed no clinical manifestations such as urolithiasis or exercise-induced acute renal failure. 17362586 2007
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 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
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 Biomarker disease CTD_human This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003
Entrez Id: 116085
Gene Symbol: SLC22A12
SLC22A12
0.350 GeneticVariation disease BEFREE This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1). 14655203 2003