ZIC2, Zic family member 2, 7546

N. diseases: 125; N. variants: 18
Disease: Neural Tube Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE We reviewed the literature for ZIC2-ZIC5 deletions and their involvement in neural tube defects (NTDs). 21496007 2012
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE The study focused on the associated brain malformations, including neuronal migration defects, which predominated in individuals with ZIC2 mutations, and neural tube defects, which were frequently associated with ZIC2 (rachischisis) and TGIF mutations. 21940735 2011
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 Biomarker group CTD_human Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives. 15136147 2004
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE Transmission disequilibrium testing of a frequent polymorphism in the ZIC2 gene (1059C > T, H353H) in parent-spina bifida aperta child triads showed no association with NTD. 14679585 2004
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.340 GeneticVariation group BEFREE If this association is confirmed, subtle alterations in ZIC2 activity may confer a risk of NTD. 11857562 2002