DisGeNET - a database of gene-disease associations

UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35

Disease: Hyperuricemic Nephropathy, Familial Juvenile 1 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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:

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:

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:

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

dbSNP:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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

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:

rs121917769

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

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:

rs121917771

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:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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

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

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:

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

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

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

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:

rs121917771

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:

rs121917771

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:

rs121917772

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