PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Disease: 2p21 microdeletion syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. 11524703 2001