rs28934583, UMOD

N. diseases: 2
Disease: Hyperuricemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperuricemia
CUI: C0740394
Disease: Hyperuricemia
0.010 GeneticVariation BEFREE We describe here a novel heterozygous mutation of <i>UMOD</i> (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia. 29424336 2019