PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Disease: 2p21 microdeletion syndrome without cystinuria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		0.300 ChromosomalRearrangement disease ORPHANET Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. 23794250 2013