ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Disease: Deficiency of acetyl-CoA acetyltransferase ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 30 0.800 definitive 1.000 35 30 1979 2019