ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 GeneticVariation disease BEFREE Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. 27727273 2016
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
0.110 Biomarker disease HPO