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: rs121917768
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
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
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
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
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: rs121917773
rs121917773
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1835934
Disease:
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
dbSNP: rs1555487318
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
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
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: 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: rs121917768
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
rs121917769
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: rs121917770
rs121917770
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: rs121917771
rs121917771
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: rs121917772
rs121917772
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: rs1555487318
rs1555487318
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: rs28934582
rs28934582
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: rs28934583
rs28934583
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: rs121917768
rs121917768
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917768
rs121917768
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917769
rs121917769
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004
dbSNP: rs121917770
rs121917770
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003 2004
dbSNP: rs121917771
rs121917771
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C4551496
Disease:
Hyperuricemic Nephropathy, Familial Juvenile 1 		0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896 2004