INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Nephronophthisis, familial juvenile ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855681
Disease: Nephronophthisis, familial juvenile
Nephronophthisis, familial juvenile 		0.010 GeneticVariation disease BEFREE This case shows that INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/β-catenin pathway. 20798123 2010