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: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 GeneticVariation disease BEFREE Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. 19465746 2009
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 Biomarker disease BEFREE Here we summarise studies in 158 patients from 31 kindreds diagnosed with familial juvenile hyperuricaemic nephropathy FJHN from a total of 230 kindred members studied in Great Britain. 17065066 2006
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 GeneticVariation disease BEFREE Mutation in the D8C at Cys217 in human UMOD is associated with familial juvenile hyperuricaemic nephropathy, which might be due to the disruption of the disulfide bridge. 15589826 2004
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 GeneticVariation disease BEFREE Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 GeneticVariation disease BEFREE Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
CUI: C0235419
Disease: Hyperuricemic nephropathy
Hyperuricemic nephropathy
0.060 GeneticVariation disease BEFREE This reduction in FEur was not as great as that in young UK women with familial juvenile hyperuricaemic nephropathy (FJHN: 5.1 +/- 1.5%) and was not associated with impaired renal function. 7921753 1994