UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121917773
rs121917773
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1835934
Disease:
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		0.800 GeneticVariation UNIPROT Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. 14570709 2003
dbSNP: rs121917773
rs121917773
Entrez Id: 7369
Gene Symbol: UMOD
UMOD
CUI: C1835934
Disease:
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 		G 0.800 CausalMutation CLINVAR