UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Cystic Kidney Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.340 GeneticVariation group LHGDN Defective intracellular trafficking of uromodulin mutant isoforms. 17010121 2006
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.340 GeneticVariation group LHGDN Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12. 11730273 2002
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.340 GeneticVariation group LHGDN Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. 12471200 2002
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.340 GeneticVariation group LHGDN Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. 14531790 2003
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.340 Biomarker group GENOMICS_ENGLAND The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease. 29180396 2018