rs13333226
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hypertensive disease
A
0.810
GeneticVariation
GWASCAT
In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003).
21082022
2010
rs13333226
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hypertensive disease
A
0.810
GeneticVariation
GWASDB
In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003).
21082022
2010
rs13333226
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hypertensive disease
0.810
GeneticVariation
BEFREE
In a subset of 13,446 individuals with estimated glomerular filtration rate (eGFR) measurements, we show that rs13333226 is independently associated with hypertension (unadjusted for eGFR: 0.89 [0.83-0.96], p = 0.004; after eGFR adjustment: 0.89 [0.83-0.96], p = 0.003).
21082022
2010
rs13333226
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hypertensive disease
A
0.810
GeneticVariation
GWASCAT
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
27618447
2016
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
12629136
2003
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy.
22776760
2012
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
T
0.800
CausalMutation
CLINVAR
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Pathogenic uromodulin mutations result in premature intracellular polymerization.
25436415
2015
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
14570709
2003
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.
12900848
2003
rs121917768
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Defective intracellular trafficking of uromodulin mutant isoforms.
17010121
2006
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
14570709
2003
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
G
0.800
CausalMutation
CLINVAR
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Hyperuricemic Nephropathy, Familial Juvenile 1
0.800
GeneticVariation
UNIPROT
Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene.
12900848
2003
rs121917769
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
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