CUBN, cubilin, 8029

N. diseases: 103; N. variants: 79
Disease: Kidney Failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 Biomarker disease BEFREE Receptor-mediated endocytosis, involving megalin and cubilin, mediates renal proximal-tubular reabsorption and is decreased in Dent disease because of mutations of the chloride/proton antiporter, chloride channel-5 (CLC-5), resulting in low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, and renal failure. 23572577 2013