ZIC5, Zic family member 5, 85416

N. diseases: 29; N. variants: 0
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis. 25454392 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE The minimal deletion interval associated with the Dandy-Walker malformation (DWM) was narrowed to the 13q32.2-33.2 region, in which the ZIC2 and ZIC5 genes proposed as underlying various CNS malformations are mapped. 17209130 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 Biomarker group BEFREE In addition, the Zic5-deficient mice exhibited malformation of neural-crest-derived facial bones, especially the mandible, which had not been observed in other Zic family mutants. 15136147 2004