UPB1, beta-ureidopropionase 1, 51733

N. diseases: 21; N. variants: 11
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.300 Biomarker disease CTD_human Five cases of beta-ureidopropionase deficiency detected by GC/MS analysis of urine metabolome. 18853477 2009