UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
Disease: Hydrocephalus, Normal Pressure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		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
CUI: C0020258
Disease: Hydrocephalus, Normal Pressure
Hydrocephalus, Normal Pressure 		0.020 GeneticVariation disease BEFREE There is extensive genetic heterogeneity with at least three different loci for NPH (NPHP1, NPHP2, and NPHP3) and two different loci for MCKD (MCKD1 and MCKD2). 10966501 2000