Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. 31068150 2019
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE However, hyperuricemia and gout are more frequent in individuals with ADTKD-UMOD. 29784615 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 AlteredExpression disease BEFREE Collectively, our results suggest that THP deficiency can cause progressive disturbances in renal functions via initially NKCC2 dysfunction and later compensatory responses, resulting in prolonged activation of the renin-angiotensin-aldosterone axis and hyperuricemia. 29357410 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Hereditary mutations in Tamm-Horsfall protein (THP/uromodulin) gene cause autosomal dominant kidney diseases characterized by juvenile-onset hyperuricemia, gout and progressive kidney failure, although the disease pathogenesis remains unclear. 29145399 2017
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease 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
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease BEFREE From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. 26872483 2016
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease BEFREE A renewed interest in UMOD has been triggered by the identification of UMOD mutations as cause of hereditary dominant renal diseases, now referred to as uromodulin-associated kidney diseases (UAKDs), presenting with tubulointerstitial fibrosis, defective urinary concentration, hyperuricaemia and gout, and progressive renal failure. 25228753 2015
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Uromodulin gene (UMOD) mutations have been linked to rare forms of mendelian dominant medullary cystic kidney disease and familial hyperuricemia. 26040415 2015
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary to profound renal uric acid underexcretion, gout, and chronic renal disease. 25417683 2014
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease BEFREE Familial hyperuricemia due to uromodulin deficiency precedes but does not cause kidney failure. 22157498 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Mutations of the UMOD gene, which encodes the uromodulin protein, are associated with tubulointerstitial nephritis and hyperuricemia. 21978600 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE We report mutation analysis of the REN gene in 39 kindreds with hyperuricemia and CKD who previously tested negative for mutations in the UMOD (uromodulin) and HNF1B (hepatocyte nuclear factor 1β) genes. 21903317 2011
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Individuals with UMOD mutations also suffer from hyperuricemia in childhood, and often suffer from gout in their teenage years. 21071970 2011
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Mutations in the UMOD gene encoding uromodulin (Tamm-Horsfall glycoprotein) result in the autosomal dominant transmission of progressive renal insufficiency and hypo-uricosuric hyperuricemia leading to gout at an early age. 20151160 2010
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease BEFREE Elucidation of the mechanisms of hyperuricemia in patients with familial juvenile hyperuricemic nephropathy will shed light on the function of uromodulin, functional impairment of which eventually results in diminished uric acid excretion. 18349750 2008
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease LHGDN [Uromodulin mutation and hyperuricemia]. 18409531 2008
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
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
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease LHGDN Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 17065110 2006
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. 17065110 2006
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) and familial juvenile hyperuricemic nephropathy (FJHN) are heritable renal diseases with autosomal-dominant transmission and shared features, including polyuria, progressive renal failure, and abnormal urate handling, which leads to hyperuricemia and gout. 15253706 2004
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease LHGDN 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
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
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
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 GeneticVariation disease BEFREE Independent confirmation of the locations of MCKD1 and MCKD2 in other MCKD families, with or without hyperuricemia and gout, has been reported. 12832729 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.200 Biomarker disease BEFREE Here, we describe new missense mutations in three families with MCKD/FJHN and demonstrate allelism with a glomerulocystic kidney disease (GCKD) variant, showing association of cyst dilatation and collapse of glomeruli with some clinical features similar to MCKD/FJHN as hyperuricemia and impairment of urine concentrating ability. 14570709 2003