ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 98; N. variants: 4
Disease: Xanthomatosis ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		0.020 Biomarker disease BEFREE Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow. 30354239 2018
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		0.020 Biomarker disease BEFREE Absence of ACAT-1 attenuates atherosclerosis but causes dry eye and cutaneous xanthomatosis in mice with congenital hyperlipidemia. 10777503 2000