Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3309
Gene Symbol: HSPA5
HSPA5 		0.010 Biomarker disease BEFREE We characterized tubular expression of uromodulin and the ER stress surrogate marker Grp78 by immunohistochemistry in kidney biopsy specimens from 7 patients with UMOD-related kidney disease. 21978600 2012
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 CausalMutation disease CLINVAR
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 Biomarker disease CTD_human
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 Biomarker disease MGD Validation of uromodulin as a candidate gene for human essential hypertension. 24324041 2014
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 The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. 14570709 2003
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 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 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 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 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 UNIPROT A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 GeneticVariation disease UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 GeneticVariation disease UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 GeneticVariation disease UNIPROT Our results suggested that the novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of FJHN. 23988501 2013
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 UNIPROT Mutations in UMOD were recently reported in nine families with FJHN/MCKD2 disease. 14569098 2003
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		1.000 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 		1.000 Biomarker disease GENOMICS_ENGLAND
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