UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 GeneticVariation disease BEFREE Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal dominant disease caused by mutations in the uromodulin gene (UMOD) and leading to gout, tubulointerstitial nephropathy and end-stage renal disease. 19203555 2009
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 GeneticVariation disease BEFREE Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. 21868615 2011
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 GeneticVariation disease BEFREE We compared this population with 5 patients with familial tubulointerstitial nephritis not related to UMOD mutation. 21978600 2012
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 GeneticVariation disease BEFREE We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic tubulointerstitial nephropathy not associated with UMOD mutation). 20378641 2010
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 Biomarker disease GENOMICS_ENGLAND
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 Biomarker disease BEFREE The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease. 21654721 2011
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 Biomarker disease BEFREE Identification and characterization of the MCKD and FJHN genes will help to clarify the pathogenesis and classification of hereditary tubulo-interstitial nephritides. 12832729 2003
CUI: C0027707
Disease: Nephritis, Interstitial
Nephritis, Interstitial
0.370 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. 14531790 2003