ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
Disease: NEPHRONOPHTHISIS 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 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: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 GeneticVariation disease UNIPROT Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 Biomarker disease CTD_human
CUI: C3539071
Disease: NEPHRONOPHTHISIS 14
NEPHRONOPHTHISIS 14 		0.710 CausalMutation disease CLINVAR