DisGeNET - a database of gene-disease associations

UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35

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:

rs398122388

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4551496
Disease:

Hyperuricemic Nephropathy, Familial Juvenile 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs780462125

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4551496
Disease:

Hyperuricemic Nephropathy, Familial Juvenile 1

0.700

GeneticVariation

UNIPROT

dbSNP:

rs878855325

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

AGGAGGCGG

0.700

CausalMutation

CLINVAR

dbSNP:

rs886043751

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.700

GeneticVariation

UNIPROT

dbSNP:

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:

rs121917769

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:

rs121917770

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:

rs121917771

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:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

dbSNP:

rs1447458978

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4551496
Disease:

Hyperuricemic Nephropathy, Familial Juvenile 1

0.700

GeneticVariation

UNIPROT

Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

12471200

2002

dbSNP:

rs1555487621

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

dbSNP:

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:

rs121917769

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:

rs121917770

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:

rs121917771

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:

rs121917772

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:

rs1555487318

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:

rs28934582

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:

rs28934583

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:

rs1447458978

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4551496
Disease:

Hyperuricemic Nephropathy, Familial Juvenile 1

0.700

GeneticVariation

UNIPROT

UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

12629136

2003

dbSNP:

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