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: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 GeneticVariation disease BEFREE In addition, common single nucleotide polymorphisms in the UMOD promoter have been associated with the risk for impaired renal function and chronic kidney disease. 26040415 2015
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 GeneticVariation disease BEFREE Further, this study was able to demonstrate for the first time in vivo that the severity of the uromodulin maturation defect as well as onset and speed of progression of renal dysfunction and morphological alterations are strongly dependent on the particular Umod mutation itself and the zygosity status. 23748428 2013
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 GeneticVariation disease BEFREE Childhood course of renal insufficiency in a family with a uromodulin gene mutation. 20151160 2010
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 Biomarker disease BEFREE Herein is demonstrated that patients with FJHN and renal insufficiency exhibit a profound reduction in urinary uromodulin together with either elevated or decreased plasma uromodulin. 17151335 2007
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 GeneticVariation disease BEFREE When a mutation is found, family members can be tested for a UMOD mutation and pre-symptomatic diagnosis may allow counseling to prevent or halt the progression to renal insufficiency. 17065110 2006
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 Biomarker 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
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 Biomarker disease HPO
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.160 GeneticVariation disease CLINVAR