Source: ORPHANET

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1 		acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		disease 0.800 definitive 1.000 1 0 1979 2019