rs121917769, UMOD

N. diseases: 2
Disease: Autosomal dominant tubulointerstitial kidney disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal dominant tubulointerstitial kidney disease
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
0.010 GeneticVariation BEFREE ADTKD-<i>UMOD</i>, which is associated with retention of mutant uromodulin in the endoplasmic reticulum (ER) of renal thick ascending limb cells, is characterized by hyperuricemia, interstitial fibrosis, inflammation and renal failure, and we used targeted homologous recombination to generate a knock-in mouse model with an ADTKD-causing missense cysteine to arginine uromodulin mutation (C125R). 28325753 2017