Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.060 Biomarker disease BEFREE Homozygosity for uromodulin disorders: FJHN and MCKD-type 2. 15253706 2004
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 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 A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. 15673476 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 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
1.000 GeneticVariation disease UNIPROT 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 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 GENOMICS_ENGLAND 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: 4582
Gene Symbol: MUC1
MUC1
0.060 Biomarker 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 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: 2736
Gene Symbol: GLI2
GLI2
0.020 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
1.000 Biomarker disease BEFREE FJHN and MCKD2 are allelic, result from uromodulin (UMOD) mutations and the term uromodulin-associated kidney disease (UAKD) has been proposed for them. 16164624 2005
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
0.060 GeneticVariation disease BEFREE Autosomal-dominant juvenile hyperuricemia, gouty arthritis, medullary cysts, and progressive renal insufficiency are features associated with familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease type 1 (MCKD1) and type 2 (MCKD2). 16164624 2005
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE A mutation in UMOD gene was found in these 3 families as the cause of the FJHN. 17065110 2006
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 Mutations in the Uromodulin (UMOD) gene were published in patients with familial juvenile hyperuricemic nephropathy (FJHN) and MCKD2. 17245395 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 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: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE Mutations in HNF1B cause a phenotype similar to FJHN/GCKD but also congenital anomalies of the kidney and the urinary tract (CAKUT). 18846391 2009
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 BEFREE Mutations in the UMOD gene cause uromodulin storage disease. 20948228 2010
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: 6928
Gene Symbol: HNF1B
HNF1B
0.040 GeneticVariation disease BEFREE However, UMOD, REN or HNF-1β mutations are found in only approximately 45% of FJHN probands, indicating the involvement of other genetic loci in approximately 55% of probands. 20976470 2011
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
1.000 GeneticVariation disease BEFREE A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010