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:

rs121917772

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:

rs1555487318

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:

rs1555487318

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:

rs28934582

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:

rs28934582

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:

rs28934583

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:

rs28934583

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

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

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

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:

rs121917771

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:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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

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

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

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:

rs121917771

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:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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:

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:

rs121917769

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4551496
Disease:

Hyperuricemic Nephropathy, Familial Juvenile 1

0.800

GeneticVariation

UNIPROT

15983957

2005