Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 GeneticVariation disease BEFREE Mutations in the uromodulin gene (<i>UMOD</i>) resulting in malfunctioning of UMOD are known to be the cause of ADTKD-UMOD, which is assumed to be an endoplasmatic reticulum (ER) storage disease. 30976393 2019
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 GeneticVariation disease UNIPROT 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
0.790 GeneticVariation disease UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 GeneticVariation disease BEFREE Mutations of the UMOD gene, encoding uromodulin, have been associated with medullary cystic kidney disease 2, familial juvenile hyperuricemic nephropathy, and glomerulocystic kidney disease. 18950917 2009
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 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
0.790 GeneticVariation disease UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 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
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 Biomarker disease GENOMICS_ENGLAND Autosomal dominant medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and autosomal dominant glomerulocystic kidney disease (GCKD) constitute a hereditary renal disease group that may lead to end-stage renal failure caused by mutations of the UMOD gene and its product, uromodulin or Tamm-Horsfall protein. 15983957 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 GeneticVariation disease BEFREE Medullary cystic kidney disease type 2 (also known as uromodulin-associated kidney disease) likely represents a form of endoplasmic reticulum storage disease, with deposition of the abnormal uromodulin protein in the endoplasmic reticulum, leading to tubular cell atrophy and death. 15844001 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 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
0.790 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
0.790 GeneticVariation disease UNIPROT In the kindreds showing linkage to the MCKD2 locus on chromosome 16p12, mutational analysis of the UMOD gene was performed by exon polymerase chain reaction (PCR) and direct sequencing. 14531790 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 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
0.790 GeneticVariation disease UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 Biomarker disease GENOMICS_ENGLAND Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 Biomarker disease BEFREE We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN. 12471200 2002
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 GeneticVariation disease UNIPROT We postulate that mutation of UMOD disrupts the tertiary structure of UMOD and is responsible for the clinical changes of interstitial renal disease, polyuria, and hyperuricaemia found in MCKD2 and FJHN. 12471200 2002
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 Biomarker disease CTD_human
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
0.790 CausalMutation disease CLINVAR
Entrez Id: 3758
Gene Symbol: KCNJ1
KCNJ1
0.010 Biomarker disease BEFREE Therefore, THGP modulation of ROMK function confers a new role of THGP on renal ion transport and may contribute to salt wasting observed in FJHN/MCKD-2/GCKD patients. 21081491 2011
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
0.010 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
Entrez Id: 6928
Gene Symbol: HNF1B
HNF1B
0.010 Biomarker disease BEFREE Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.010 Biomarker disease BEFREE Polymorphic microsatellite markers spanning the critical regions on chromosome 1 and chromosome 16 that encompass MCKD1 and MCKD2 were analyzed. 11576337 2001