Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Here, we report a 3-year-old Chinese boy in an ADTKD family caused by a novel UMOD gene mutation. 31068150 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Uromodulin kidney disease (UKD) is a subtype of autosomal dominant tubulointerstitial kidney disease (ADTKD), and is a rare cause of renal failure and gout in young people. 31157132 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Uromodulin (<i>UMOD</i>) gene mutations are related to the clinical phenotype of ADTKD-<i>UMOD</i>. 29424336 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Mutations in nephrin (NPHS1), podocin (NPHS2), laminin β2 (LAMB2), and α-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV α chains (COL4A) have been demonstrated to activate podocyte ER stress in collagen IV nephropathies; and mutations in uromodulin (UMOD) have been reported to trigger tubular ER stress in autosomal dominant tubulointerstitial kidney disease. 30099615 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review. 31422399 2019
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review. 29569962 2018
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE However, hyperuricemia and gout are more frequent in individuals with ADTKD-UMOD. 29784615 2018
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. 29513881 2018
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE We aimed to establish the prevalence of genetic kidney diseases, ADTKD and ADTKD-UMOD in adult chronic kidney disease (CKD) patients, and to investigate characteristic features. 30376835 2018
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Therefore, serum uromodulin could serve as a simple, new diagnostic marker to identify patients with ADTKD-UMOD. 27729211 2017
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. 28284384 2017
Autosomal dominant tubulointerstitial kidney disease
0.100 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
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). 28605509 2017
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Mutations in the UMOD gene, encoding uromodulin, lead to ADTKD-UMOD related. 28785050 2017
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Rare mutations in UMOD cause autosomal dominant tubulointerstitial kidney disease (ADTKD), which leads to chronic kidney disease (CKD). 28781372 2017
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE UMOD-associated kidney disease has been proposed as a logical diagnostic label to replace FJHN, but given all these other mutations, an over-arching diagnostic term of 'autosomal dominant tubulointerstitial kidney disease' (ADTKD) has been recently adopted. 26872483 2016
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE Mutations in the UMOD gene coding for uromodulin cause autosomal dominant tubulointerstitial kidney disease. 25540096 2015
Autosomal dominant tubulointerstitial kidney disease
0.100 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
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE 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
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker 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
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE A locus for FJHN was previously identified on chromosome 16p12 close to the MCKD2 locus, which is responsible for a variety of autosomal-dominant medullary cystic kidney disease (MCKD2). 14569098 2003
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. 14531790 2003
Autosomal dominant tubulointerstitial kidney disease
0.100 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease. 12234310 2002
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE The location of a second genetic locus for autosomal dominant medullary cystic kidney disease (ADMCKD) at chromosome 16p12 led us to further investigate the molecular analysis of the critical region where two genes coding for uromodulin and SA proteins with renal specific functions, UMOD and SAH, are localized. 11730273 2002
Autosomal dominant tubulointerstitial kidney disease
0.100 GeneticVariation disease BEFREE A gene for FJHN in two Czech families was recently mapped to chromosome 16p11.2, close to the MCKD2 locus, which is responsible for a variant of autosomal dominant medullary cystic kidney disease observed in an Italian family. 11675411 2001