Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Medullary Cystic Kidney Disease Type 2
0.700 GeneticVariation UNIPROT Pathogenic uromodulin mutations result in premature intracellular polymerization. 25436415 2015
Medullary Cystic Kidney Disease Type 2
0.700 GeneticVariation UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
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
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
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