OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 20; N. variants: 2
Disease: Classical phenylketonuria ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		0.010 GeneticVariation disease BEFREE When one disease is not enough: succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria. 28820737 2017