PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014