NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Disease: Renal Cell Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.010 Biomarker disease BEFREE The role of NOTCH2 and JAG1 in formation of proximal nephron structures and podocytes might explain the observed phenotypes of renal dysplasia and proteinuria in patients with Alagille syndrome, and renal tubular acidosis may be the result of JAG1 expression in the collecting ducts. 23752887 2013