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:

rs12922822

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C4280669
Disease:

Velopharyngeal dysfunction

0.700

GeneticVariation

GWASCAT

GWAS reveals loci associated with velopharyngeal dysfunction.

29855589

2018

dbSNP:

rs143583842

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

29124443

2018

dbSNP:

rs4997081

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs1555487316

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1858395
Disease:

Tubular atrophy

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1555487316

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1565489
Disease:

Renal Insufficiency

0.700

GeneticVariation

CLINVAR

dbSNP:

rs4293393

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0392525
Disease:

Nephrolithiasis

0.010

GeneticVariation

BEFREE

We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis.

28361944

2017

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 Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

14531790

2003

dbSNP:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.800

GeneticVariation

UNIPROT

Pathogenic uromodulin mutations result in premature intracellular polymerization.

25436415

2015

dbSNP:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.800

GeneticVariation

UNIPROT

Defective intracellular trafficking of uromodulin mutant isoforms.

17010121

2006

dbSNP:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.800

CausalMutation

CLINVAR

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:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

dbSNP:

rs28934584

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

dbSNP:

rs1555487318

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1555487621

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.700

GeneticVariation

UNIPROT

Pathogenic uromodulin mutations result in premature intracellular polymerization.

25436415

2015

dbSNP:

rs1555487621

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

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 Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.

14531790

2003

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:

rs1555487621

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

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

dbSNP:

rs1555487621

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C1859040
Disease:

Medullary Cystic Kidney Disease Type 2

0.700

GeneticVariation

UNIPROT

Defective intracellular trafficking of uromodulin mutant isoforms.

17010121

2006

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:

rs4293393

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.800

GeneticVariation

GWASDB

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

20686651

2010

dbSNP:

rs4293393

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.800

GeneticVariation

GWASCAT

Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

20686651

2010

dbSNP:

rs12917707

Entrez Id:	7369
Gene Symbol:	UMOD

UMOD

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.720

GeneticVariation

BEFREE

We tested a large cohort of Caucasian patients for association of rs12917707 with IgA nephropathy showing a benign, stable course and with IgA nephropathy that progressed toward end stage renal failure.

25163389

2014