INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311245
Disease: Congenital cystic kidney disease
Congenital cystic kidney disease
0.010 GeneticVariation disease BEFREE Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH). 18218308 2008