ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Disease: Deficiency of acetyl-CoA acetyltransferase ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779565865
rs779565865
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C1536500
Disease:
Deficiency of acetyl-CoA acetyltransferase 		A 0.700 CausalMutation CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019