UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934584
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: rs28934584
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
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
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
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
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
rs28934584
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs1555487621
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
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
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: rs1555487621
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
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
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: rs1555487318
rs1555487318
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2
G 0.700 CausalMutation CLINVAR
dbSNP: rs878855325
rs878855325
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2
AGGAGGCGG 0.700 CausalMutation CLINVAR
dbSNP: rs886043751
rs886043751
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1859040
Disease:
Medullary Cystic Kidney Disease Type 2
0.700 GeneticVariation UNIPROT