SERPINB5, serpin family B member 5, 5268

N. diseases: 87; N. variants: 5
Disease: Complete trisomy 18 syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152096
Disease: Complete trisomy 18 syndrome
Complete trisomy 18 syndrome 		0.010 Biomarker disease BEFREE Recently, the SERPINB5 gene on chromosome 18 was shown to exhibit different DNA-methylation patterns in the placenta and maternal blood cells, and the allelic ratio for placenta-derived hypomethylated SERPINB5 in maternal plasma was further shown to be useful for noninvasive detection of fetal trisomy 18. 18202156 2008