Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917770
rs121917770
UMOD
C 0.800 CausalMutation CLINVAR

dbSNP: rs121917770
rs121917770
UMOD
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
rs121917770
UMOD
0.800 GeneticVariation UNIPROT A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. 14569098

2003
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709

2003
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy. 12629136

2003
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Renal manifestations of a mutation in the uromodulin (Tamm Horsfall protein) gene. 12900848

2003
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 15086896

2004
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. 15575003

2004
dbSNP: rs121917770
rs121917770
UMOD
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
UMOD
0.800 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121

2006
dbSNP: rs121917770
rs121917770
UMOD
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
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. 22776760

2012
dbSNP: rs121917770
rs121917770
UMOD
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: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. 23988501

2013
dbSNP: rs121917770
rs121917770
UMOD
0.800 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415

2015