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: rs4293393
rs4293393
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. 21082022 2010
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE We investigated the associations between an important single nucleotide polymorphism (SNP) in UMOD, that is rs12917707-G>T, and estimated glomerular filtration rate (eGFR), BP and cardiac organ damage as determined by echocardiography in patients with arterial hypertension. 28598953 2017
dbSNP: rs12917707
rs12917707
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.020 GeneticVariation BEFREE The genetic rs12917707-G>T variant in uromodulin (UMOD) has been associated with renal function, chronic kidney disease and hypertension with the minor T-allele showing a protective effect. 28418009 2018
dbSNP: rs1389335358
rs1389335358
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE There were 4 NSV of GRK4 (R65L, A116T, A142V, V486A): at least one was found in all 9 patients; 3 were previously described and associated with hypertension. 28052878 2017
dbSNP: rs199633513
rs199633513
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE There were 3 NSV of SCNN1B (R206Q, G442V, and R563Q); 2 previously described and 1 associated with hypertension. 28052878 2017
dbSNP: rs759481702
rs759481702
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE There were 4 NSV of GRK4 (R65L, A116T, A142V, V486A): at least one was found in all 9 patients; 3 were previously described and associated with hypertension. 28052878 2017
dbSNP: rs143583842
rs143583842
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0740394
Disease:
Hyperuricemia 		0.700 GeneticVariation GWASCAT Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population. 29124443 2018
dbSNP: rs28934583
rs28934583
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C0740394
Disease:
Hyperuricemia 		0.010 GeneticVariation BEFREE We describe here a novel heterozygous mutation of <i>UMOD</i> (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia. 29424336 2019
dbSNP: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917768
rs121917768
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: rs121917769
rs121917769
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: rs121917769
rs121917769
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