UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 14569098 2003
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4511620
Disease:
Autosomal dominant tubulointerstitial kidney disease 		0.010 GeneticVariation 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
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. 22776760 2012
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 14569098 2003
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709 2003
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. 23197950 2012
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. 21060763 2010
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. 23988501 2013
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. 15983957 2005
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 12629136 2003
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. 12900848 2003
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917771
rs121917771
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917771
rs121917771
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917771
rs121917771
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015