UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Nephronophthisis 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		0.020 GeneticVariation disease BEFREE No mutation was detected in UMOD.Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons. 26037636 2016
CUI: C4551979
Disease: Nephronophthisis 1
Nephronophthisis 1 		0.020 Biomarker disease BEFREE Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease. 12234310 2002