rs201181059, SLC22A12

N. diseases: 1
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
0.700 GeneticVariation UNIPROT Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease. 26418379 2015
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472 2007
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. 15634722 2005
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT Mutational analysis of idiopathic renal hypouricemia in Korea. 15912381 2005
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 14694169 2004
Renal hypouricemia
CUI: C0473219
Disease: Renal hypouricemia
0.700 GeneticVariation UNIPROT Molecular identification of a renal urate anion exchanger that regulates blood urate levels. 12024214 2002