FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemia, Type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.300 Biomarker disease CTD_human Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I. 23895425 2014
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III 		0.300 Biomarker disease CTD_human Pharmacological rescue of the 14CoS/14CoS mouse: hepatocyte apoptosis is likely caused by endogenous oxidative stress. 12899938 2003