ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: Rhombencephalosynapsis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866130
Disease: Rhombencephalosynapsis
Rhombencephalosynapsis 		0.010 GeneticVariation disease BEFREE No mutations in ZIC2 or in other genes that cause HPE were identified, suggesting that mutation of ZIC2 is a rare cause of, or contributor to, RES associated with HPE. 21638761 2011