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: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE Uromodulin is known to affect the formation of calcium-containing kidney stones, and this localization of UMOD will help in studies of families with autosomal forms of nephrolithiasis. 8179291 1993
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE Despite an amplified biological effect of the homozygote mutation, the proband did not show a strikingly more severe clinical evolution nor was the near absence of urinary uromodulin associated with urinary tract infections or kidney stones. 28605509 2017
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE UMOD has been linked to water/electrolyte balance and to kidney innate immunity and it is believed to protect against urinary tract infections and renal stones. 25228753 2015
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE UMOD has multiple functions such as protection against urinary tract infections and nephrolithiasis. 31205055 2019
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 GeneticVariation disease BEFREE For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate. 20728256 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE Thus, biosynthesis of uromodulin in the DCT1 is critical for its function, structure and plasticity, suggesting novel links between uromodulin, blood pressure control and risk of kidney stones. 30007527 2018
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 GeneticVariation disease BEFREE In contrast to CKD, the UMOD variant confers protection against kidney stones when studied in 3,617 Icelandic and Dutch kidney stone cases and 43,201 controls (OR = 0.88, P = 5.7 x 10(-5)). 20686651 2010
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 GeneticVariation disease BEFREE Moreover, genome-wide association studies have identified common variants in UMOD that are strongly associated with risk of CKD and also with hypertension and kidney stones in the general population. 28781372 2017
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE The aim of the study was assessment of four selected macromolecules level: osteopontin, calgranulin, uromodulin and bikunin in fresh morning urine sample in children with nephrolithiasis in the course of idiopathic hypercalciuria. 29353465 2018
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 AlteredExpression disease BEFREE Indeed, mutations in THP cause a group of inherited kidney diseases, and altered THP expression is associated with increased risks of urinary tract infection, kidney stone, hypertension, hyperuricemia and acute and chronic kidney diseases. 30649494 2020
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi
0.100 Biomarker disease BEFREE This review highlights new studies elucidating the clinical correlates of uromodulin, its association with kidney function decline, nephrolithiasis and urinary host defense. 27898524 2017