Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 12900848 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE Despite the unique location and recent association of THP gene mutations with hereditary uromodulin-associated kidney disease and THP single nucleotide polymorphisms with chronic kidney disease and hypertension, the physiological function(s) of THP and its pathological involvement remain incompletely understood. 29357410 2018
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT Mostly, FJHN is caused by a mutation altering the cystine residue of UMOD/Tamm-Horsfall protein. 23197950 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease MGD Renal effects of Tamm-Horsfall protein (uromodulin) deficiency in mice. 15522986 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease BEFREE Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. 25738250 2015
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT A novel mutation (p.T605G) within the uromodulin GPI anchor signal segment was identified in the affected individuals of this FJHN family. 22776760 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease BEFREE These observations suggest that there are different urinary and plasma uromodulin profiles in early and late disease and that there may be an altered direction of uromodulin secretion in the course of FJHN as a result of improper intracellular sorting of the mutated protein in the thick ascending limb. 17151335 2007
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 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
1.000 Biomarker disease BEFREE A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. 27729211 2017
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE FJHN is genetically heterogeneous and due to mutations of three genes: uromodulin (UMOD), renin (REN) and hepatocyte nuclear factor-1beta (HNF-1β) on chromosomes 16p12, 1q32.1, and 17q12, respectively. 20976470 2011
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE We performed linkage analysis and sequencing of the entire codifying region of the UMOD gene in 4 Spanish families with MCKD/FJHN/GCKD. 15983957 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease CTD_human
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease BEFREE The three overlapping clinical uromodulin-associated kidney diseases (UAKD) are medullary cystic disease type 2, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease. 23880785 2014
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 12629136 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT The clinical characteristics were similar to those of other patients suffering from uromodulin mutations and to those of patients suffering from medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 12900848 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE In a large Belgian family with FJHN, a tight linkage between the disorder and the marker D16S3060, located within the MCKD2 locus on chromosome 16p12 (maximal two-point logarithmic odds score of 3.74 at a recombination fraction of theta = 0), was observed in this study. 11675411 2001
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease BEFREE Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE A mutation in the uromodulin gene (16p11-13) has recently been linked to medullary cystic kidney disease type 2 and familial juvenile hyperuricemic nephropathy. 15073494 2004
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 CausalMutation disease CLINVAR
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 Biomarker disease BEFREE The uromodulin excretion pattern observed in the investigated family suggests that urinary uromodulin decreases in FJHN from low normal values at childhood to extremely low levels in early adulthood. 19203555 2009
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT Six unrelated Japanese families with FJHN were examined for mutations of the UMOD gene by direct sequencing. 15086896 2004
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE Uromodulin (UMOD) mutations were described in patients with medullary cystic kidney disease (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD). 18846391 2009
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE Familial juvenile hyperuricemic nephropathy (FJHN) is one of three similar clinical disorders associated with uromodulin gene mutations. 22157498 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE Furthermore, the genetic basis of familial juvenile hyperuricemic nephropathy (FJHN), glomerulocystic kidney disease (GCKD) and autosomal dominant medullary cystic kidney disease 2 (MCKD2) has been recently attributed to mutations within the THP gene. 15989109 2005