FAH, fumarylacetoacetate hydrolase, 2184

N. diseases: 78; N. variants: 56
Disease: Tyrosinemia, Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. 20003495 2009
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1. 11278491 2001
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. 11476670 2001
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. 11196105 2000
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		T 0.800 CausalMutation CLINVAR Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815 1998
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries. 9633815 1998
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		T 0.800 CausalMutation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657 1996
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship. 8557261 1996
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 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
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Two novel mutations involved in hereditary tyrosinemia type I. 7757089 1995
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		T 0.800 CausalMutation CLINVAR Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583 1994
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. 7977370 1994
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842 1994
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase. 8005583 1994
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. 8318997 1993
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. 8364576 1993
dbSNP: rs779040832
rs779040832
Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease:
Tyrosinemia, Type I 		0.800 GeneticVariation UNIPROT Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. 1401056 1992