PREP, prolyl endopeptidase, 5550

N. diseases: 105; N. variants: 1
Disease: Sotos' syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175695
Disease: Sotos' syndrome
Sotos' syndrome 		0.010 Biomarker disease BEFREE Using pulsed-field gel electrophoresis analysis in eight Sos patients with a common deletion, we detected an approximately 550 kb junction fragment that we predicted according to the non-allelic homologous recombination (NAHR) mechanism using directly oriented Sos-PREP C and Sos-DREP C' subunits as substrates. 15640245 2005