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 Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. 28755192

2017

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant. 31568711

2019

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. 8076937

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997

1993

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). 27876694

2017

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE The finding that the Fah gene in wild-type mice is highly expressed only in cell types that develop a phenotype in mutants, and the fact that Fah deficiency determines the human liver disease hereditary tyrosinemia type 1 (HT1), suggested that disruption of the Fah gene was responsible for the lethal albino phenotype. 8253377

1993

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Recently, we identified a splice mutation and two nonsense mutations in the fumarylacetoacetate hydrolase gene in two patients from Quebec with tyrosinemia type I. 8028615

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE We investigated the molecular basis of FAH deficiency in a hereditary tyrosinemia type 1 patient whose liver FAH showed a very low enzymatic activity. 8364576

1993

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation 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

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE A mosaic pattern of immunoreactive fumarylacetoacetase (FAH) protein was found in liver tissue in 15 of 18 tyrosinemia type I patients of various ethnic origins. 7929843

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 AlteredExpression BEFREE The severe type I tyrosinemia, caused by a deficiency of fumarylacetoacetate hydrolase which functions downstream of HPD in the tyrosine degradation pathway, is often associated with decreased expression of HPD, and interestingly, inhibition of HPD activity seems to ameliorate the clinical symptoms of type I tyrosinemia. 12127941

2002

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE To determine the utility of this approach, cells were isolated from the livers of non-heart-beating cadaveric mice long after death and transplanted into fumarylacetoacetate hydrolase-deficient mice, a model for the human metabolic liver disease hereditary tyrosinemia type I and a stringent in vivo model for hepatic cell transplantation. 20621682

2010

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. 7977370

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE The mechanistic insights reported here pave the way for the development of pharmacological chaperones that target FAH to tackle the severe disease HT1. 31300554

2019

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency. 1350265

1992

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I. 2378358

1990

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview. 9101289

1997

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 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

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE In summary, the extent of mutation reversion of the FAH gene in the liver of HTI patients was inversely correlated with the clinical severity of the disease, suggesting that the corrected hepatocytes play a substantial protective role in liver function. 14691918

2003

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1. 28053091

2017

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation BEFREE Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I. 30954369

2019

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Tyrosinemia type 1 (HT1) is an autosomal recessive disorder of the tyrosine metabolism in which the fumarylacetoacetate hydrolase enzyme is defective. 16263080

2005

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Tyrosinaemia type I is a recessively inherited disorder caused by a deficiency of fumarylacetoacetase (FAH), the last enzyme in tyrosine degradation. 1749221

1991