| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | BEFREE | Among several reported nonsynonymous URAT1 variants, R90H (rs121907896) and W258X (rs121907892) are frequent causative mutations for renal hypouricemia. | 26821810 | 2016 |
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|
A | 0.810 | CausalMutation | CLINVAR | A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1. | 22045201 | 2012 |
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|
A | 0.810 | CausalMutation | CLINVAR | Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese. | 18492088 | 2008 |
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|
A | 0.810 | CausalMutation | CLINVAR | Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects. | 19019168 | 2008 |
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|
A | 0.810 | CausalMutation | CLINVAR | Rapid detection of R90H mutations in the human urate transporter 1 gene. | 17362586 | 2007 |
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|
A | 0.810 | CausalMutation | 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 |
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|
A | 0.810 | CausalMutation | 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 |
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|
A | 0.810 | CausalMutation | CLINVAR | Mutational analysis of idiopathic renal hypouricemia in Korea. | 15912381 | 2005 |
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|
A | 0.810 | CausalMutation | CLINVAR | Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. | 14694169 | 2004 |
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|
A | 0.810 | CausalMutation | CLINVAR | A high prevalence of renal hypouricemia caused by inactive SLC22A12 in Japanese. | 15327384 | 2004 |
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|
0.810 | GeneticVariation | UNIPROT |