Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Hereditary tyrosinemia type I (HTI) is a metabolic genetic disorder caused by mutation of fumarylacetoacetate hydrolase (FAH). 29507093

2018

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE We have studied a knockout mouse with fumarylacetoacetate hydrolase (FAH) deficiency as a model of human hereditary tyrosinaemia type (I (HT1). 9728332

1998

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE A 22 year-old woman with tyrosinemia type I (HT1) married her first cousin who is heterozygous for the same FAH mutation for which the patient is homozygous. 23250512

2010

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Patients suffering from the metabolic disease hereditary tyrosinemia type I (HT1), caused by fumarylacetoacetate hydrolase deficiency, have a high risk of developing liver cancer. 11532983

2001

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Hereditary tyrosinemia type I (HTI, McKusick 276700) is an autosomal recessive disease caused by deficient fumarylacetoacetate hydrolase (FAH, EC 3.7.1.2) activity. 9705236

1998

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Both the 8.5-kb Tol2 transposon and 5.8-kb miniTol2 engineered elements readily function to revert the deficiency of fumarylacetoacetate hydrolase in an animal model of hereditary tyrosinemia type 1. 17096595

2006

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE We investigated a Chinese family with a HT1 child to identify mutations in FAH. 22884142

2012

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE The disease is caused by mutations in the FAH gene that results in deficiency of fumarylacetoacetase, an enzyme that is involved in the tyrosine degradation pathway. 24756054

2014

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage. 27510266

2016

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I. 11754109

2002

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Hereditary tyrosinemia type I (HT1) is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene, the template for the final enzyme in the tyrosine catabolism pathway. 28712060

2017

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene. 22554029

2012

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene identified in two HT1 patients. 23895425

2014

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. 27397503

2016

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Hereditary tyrosinaemia type I (HT 1) (McKusick 276700) is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) activity, the last enzyme in the tyrosine catabolic pathway. 12137232

2002

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 AlteredExpression BEFREE These observations led us to test the possibility that the transfer of nucleated heterozygous maternal cells in the fetal circulation could be responsible for the mosaic liver expression of FAH in HTI patients. 15521007

2004

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE The adult FAH-/- mouse will serve as useful model for studies of the pathophysiology and treatment of hereditary tyrosinaemia type I as well as hepatic cancer. 7545495

1995

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one. 26565546

2016

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1. 11209059

2001

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Tyrosinaemia type I is caused by a deficiency of fumarylacetoacetate hydrolase and mainly affects the liver. 10073910

1999

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein. 1594329

1992

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: recommendation for expanded newborn screening in Hong Kong. 23000314

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect. 8473520

1993

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Furthermore, our results demonstrate that both a liver-specific promoter (transthyretin, TTR)-driven FAH transgene and a strong viral promoter (from spleen focus-forming virus, SFFV)-driven FAH transgene rescued the FAH-deficiency phenotypes in the mice derived from the respective gene-corrected iPS cells. 21765802

2011