FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Primary malignant neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE Children born with fumarylacetoacetate hydrolase (FAH) mutations suffer from Hepatorenal Tyrosinemia Type 1 (HT-1) resulting in renal dysfunction, liver failure, neurological impairments, and cancer. 30368954 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 Biomarker group BEFREE After removal of the drug 2-(2-N-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), numerous signaling pathways involved in cell proliferation, differentiation and cancer are rapidly deregulated in FAH deficient mice. 28755183 2017