TASP1, taspase 1, 55617

N. diseases: 16; N. variants: 5
Disease: Congenital malformation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.010 Biomarker disease BEFREE TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. 29633245 2018