Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
0.010 Biomarker BEFREE (6) Fumarylacetoacetate hydrolase (FAH) deficiency (tyrosinemia type I) may lead to hypermethioninemia secondary either to liver damage and/or to accumulation of fumarylacetoacetate, an inhibitor of the high K(m) MAT. 21308989

2011