UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease HPO
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE A common variation rs13333226 in the promoter region of UMOD gene was independently associated with ESRD in Han Chinese. 27938332 2016
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease BEFREE Among the 77 individuals who developed ESRD, median age at onset of ESRD was 51 years for those with ADTKD-MUC1 versus 56 years (P=0.1) for those with ADTKD-UMOD. 29784615 2018
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease BEFREE Autosomal dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulo-in terstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. 17245395 2007
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. 14531790 2003
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. 22034507 2011
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. 19203555 2009
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE In addition to causing specific UAKD, certain uromodulin gene polymorphisms have been linked to ESRD in general, suggesting that uromodulin plays a modulatory role in kidney disease progression. 23880785 2014
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 AlteredExpression disease BEFREE Lower levels of serum uromodulin were independently associated with higher risk of incident ESKD after adjusting for traditional cardiovascular risk factors, with the hazard ratios (HRs) of 3.23 (95% confidence intervals [CIs] 2.15-4.85) for the middle tertile and 7.47 (95% CI 5.06-11.03) for the bottom tertile, compared with top tertile and 0.31 (95% CI 0.25-0.38) per every standard deviation increase. 30454063 2018
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE Mutations in the uromodulin (UMOD) gene that encodes Tamm-Horsfall protein (THP) cause an autosomal-dominant form of chronic renal failure. 15327389 2004
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE One SNP (rs183962941), located in a non-coding region of UMOD, was nominally associated with ESRD (p = 0.008). 28609449 2017
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE SNPs in UMOD (OR = 0.92, p = 0.04) and GCKR (OR = 0.93, p = 0.03) were nominally associated with ESRD. 21980298 2011
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE The cardinal clinical features in individuals with the uromodulin mutation included hyperuricemia, decreased fractional excretion of uric acid, and chronic interstitial renal disease leading to end-stage renal disease (ESRD) in the fifth through seventh decade. 12787393 2003
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 GeneticVariation disease BEFREE To investigate whether rs12917707 associates with ESRD, graft failure (GF) and urinary uromodulin levels in an independent cohort, we genotyped 1142 ESRD patients receiving a renal transplantation and 1184 kidney donors as controls. 22947327 2012
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease BEFREE Urinary uromodulin independently predicts end-stage renal disease and rapid kidney function decline in a cohort of chronic kidney disease patients. 31124979 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
0.200 Biomarker disease BEFREE We conclude that UMOD is unlikely to play a role in IgA nephropathy pathogenesis nor progression to end stage renal failure, and suggest that UMOD effects are restricted to some causes of renal disease, e.g. diabetes or hypertension. 25163389 2014