Gene: FAH ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842 1994
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR Self-induced correction of the genetic defect in tyrosinemia type I. 7929843 1994
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR Thus far, 34 mutations in the FAH gene have been reported in various HT1 patients. 11278491 2001
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease BEFREE Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene. 8076937 1994
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR N-acetyl tyrosyluria caused by parenteral or enteral administration of N-acetyl-L-tyrosine: differentiation from hereditary and acquired tyrosinemias. 15187789 2004
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease BEFREE Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997 1993
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR [Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I]. 23225041 2012
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease UNIPROT The patient, currently aged 12 years, shows a normal physical and psychomotor development.This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate. 20003495 2009
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of 25 HT1 patients. 9633815 1998
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612 2014
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 24016420 2013
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). 11476670 2001
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR 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 		1.000 GeneticVariation disease UNIPROT 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay. 15638932 2005
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease CLINVAR Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I. 8723690 1996
Entrez Id: 2184
Gene Symbol: FAH
FAH 		1.000 GeneticVariation disease CLINVAR [Mutation analysis of FAH gene in patients with tyrosinemia type 1]. 23927806 2013