PAX3, paired box 3, 5077

N. diseases: 257; N. variants: 62
Disease: Congenital cerebral hernia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia 		0.010 AlteredExpression disease BEFREE In brain tissue, levels of PAX3 were significantly reduced in both encephalocele and spina bifida subtypes; the expression levels of cleaved caspase 3(17 kD) of encephalocele cases and cleaved caspase 8(47/45 kD) in spina bifida cases were higher than in controls; no difference was found in the expression of p53 or caspase 9 between NTDs and controls. 28786179 2017