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 GermlineCausalMutation ORPHANET

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 CausalMutation CLINVAR Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 1401056

1992

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation UNIPROT Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 1401056

1992

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 Tyrosinaemia type I is a recessively inherited disorder caused by a deficiency of fumarylacetoacetase (FAH), the last enzyme in tyrosine degradation. 1749221

1992

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker BEFREE Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I). 2378356

1990

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 Biomarker MGD 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 Biomarker MGD Hereditary tyrosinaemia type I, a severe autosomal recessive metabolic disease, affects the liver and kidneys and is caused by deficiency of fumarylacetoacetate hydrolase (FAH). 7545495

1995

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation UNIPROT Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. 7550234

1995

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation UNIPROT Two novel mutations involved in hereditary tyrosinemia type I. 7757089

1995

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 GeneticVariation UNIPROT 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 CausalMutation CLINVAR 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 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 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 GeneticVariation UNIPROT In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. 7977370

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation UNIPROT 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 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 UNIPROT Hereditary tyrosinemia type 1, due to a deficiency of fumarylacetoacetase (FAH), is characterized by progressive liver damage and renal tubular dysfunction and may occur in an acute or a chronic form. 8005583

1994

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation UNIPROT 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 A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I. 8028615

1994