Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease GENOMICS_ENGLAND The G774A mutation in the SLC22A12 gene encoding URAT1 predominates in Japanese renal hypouricemia. 18492088 2008
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. 19019168 2008
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR Rapid detection of R90H mutations in the human urate transporter 1 gene. 17362586 2007
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout. 16837472 2007
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR Analysis of mutations in the urate transporter 1 (URAT1) gene of Japanese patients with hypouricemia in northern Japan and review of the literature. 16703794 2006
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE Our study suggests that there is no regional different distribution of the URAT1 genetic mutations in Japanese with renal hypouricemia. 16703794 2006
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan. 15912381 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorption defect-type renal hypouricemia and in one family with the postsecretory reabsorption defect type. 15634722 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR Acute renal failure with severe loin pain and patchy renal ischaemia after anaerobic exercise (ALPE) (exercise-induced acute renal failure) in a father and child with URAT1 mutations beyond the W258X mutation. 15741204 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease BEFREE Recently, we have identified the urate-anion exchanger URAT1 (SLC22A12) in the human kidney and found that defects in SLC22A12 lead to idiopathic renal hypouricemia. 15919000 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease CLINVAR In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorption defect-type renal hypouricemia and in one family with the postsecretory reabsorption defect type. 15634722 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE In the present studies we investigated the clinical features and the mutations in the hURAT1 gene in seven families with presecretory reabsorption defect-type renal hypouricemia and in one family with the postsecretory reabsorption defect type. 15634722 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE One Japanese patient with renal hypouricemia demonstrated compound heterozygous mutations of the URAT1 gene (Q297X and IVS2+1G>A). 15772829 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE We performed a mutational analysis of the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia in this study. 15912381 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease GENOMICS_ENGLAND W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan. 15912381 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan. 15912381 2005
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE The authors recently established that urate was reabsorbed via URAT1 on the tubular apical membrane and that mutations in SLC22A12 encoding URAT1 cause renal hypouricemia. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. 15054642 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease BEFREE The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia. 15054642 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 CausalMutation disease CLINVAR A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 Biomarker disease CTD_human The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease UNIPROT A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. 15327384 2004
CUI: C0473219
Disease: Renal hypouricemia
Renal hypouricemia 		0.800 GeneticVariation disease CLINVAR The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. 14694169 2004