UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.700 GeneticVariation disease UNIPROT Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.700 Biomarker disease GENOMICS_ENGLAND 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
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.700 GeneticVariation disease UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709 2003
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.700 CausalMutation disease CLINVAR
CUI: C1835934
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.700 Biomarker disease CTD_human