Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
0.020 GeneticVariation disease BEFREE Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. 31156707 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
0.020 GeneticVariation disease BEFREE Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. 7749408 1995