rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
A
0.800
CausalMutation
CLINVAR
rs1555487318
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
G
0.700
CausalMutation
CLINVAR
rs878855325
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
AGGAGGCGG
0.700
CausalMutation
CLINVAR
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
14531790
2003
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
Pathogenic uromodulin mutations result in premature intracellular polymerization.
25436415
2015
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
Defective intracellular trafficking of uromodulin mutant isoforms.
17010121
2006
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
12471200
2002
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
14570709
2003
rs28934584
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.800
GeneticVariation
UNIPROT
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
27729211
2017
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
Pathogenic uromodulin mutations result in premature intracellular polymerization.
25436415
2015
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.
27729211
2017
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
14531790
2003
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.
12471200
2002
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.
14570709
2003
rs1555487621
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT
Defective intracellular trafficking of uromodulin mutant isoforms.
17010121
2006
rs886043751
×
Entrez Id:
7369
Gene Symbol:
UMOD
UMOD
Medullary Cystic Kidney Disease Type 2
0.700
GeneticVariation
UNIPROT