ZNF423, zinc finger protein 423, 23090

N. diseases: 97; N. variants: 16
Disease: JOUBERT SYNDROME 19 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553846
Disease: JOUBERT SYNDROME 19
JOUBERT SYNDROME 19 		0.300 Biomarker disease GENOMICS_ENGLAND Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 22863007 2012
CUI: C3553846
Disease: JOUBERT SYNDROME 19
JOUBERT SYNDROME 19 		0.300 Biomarker disease GENOMICS_ENGLAND