OXCT1, 3-oxoacid CoA-transferase 1, 5019

N. diseases: 20; N. variants: 2
Disease: Deficiency of acetyl-CoA acetyltransferase ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.010 Biomarker disease BEFREE Succinyl-CoA-3-oxoacid CoA transferase (SCOT) deficiency and beta-ketothiolase (T2) deficiency are two defects in ketolysis. 24706027 2014