FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 GeneticVariation disease BEFREE To compare the potential tumorigenic effects of K130M/V131I (Mut) and wild-type (WT) HBx on HCC, the <i>Sleeping Beauty</i> (<i>SB</i>) transposon system was used to deliver HBx Mut and WT into the livers of fumarylacetoacetate hydrolase (<i>Fah</i>)-deficient mice and in the context of <i>transformation related protein 53</i> (<i>Trp53</i>) deficiency. 30975706 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 GeneticVariation disease BEFREE Since then, NTBC/Nitisone (a drug blocking the pathway upstream of FAH) is successfully used in combination with a diet low in tyrosine and phenylalanine, but patients are still at risk of developing hepatocellular carcinoma. 28755181 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 GeneticVariation disease BEFREE Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). 27397503 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 Biomarker disease BEFREE Hepatocellular carcinoma was observed only in FAH-negative regions. 14691918 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 AlteredExpression disease BEFREE Analysis of FAH expression in liver sections obtained after resection for hepatocellular carcinoma revealed a mosaic pattern of expression. 11476670 2001
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 Biomarker disease BEFREE Tyrosinaemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma, in childhood or early adolescence. 11196105 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.160 Biomarker disease HPO