ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Disease: Ketoacidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		0.100 CausalMutation phenotype CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
CUI: C0220982
Disease: Ketoacidosis
Ketoacidosis 		0.100 GeneticVariation phenotype CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019