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 CausalMutation CLINVAR Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. 25081276

2014

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation 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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation CLINVAR Identification of a combined missense/splice-site mutation in FAH causing tyrosinemia type 1. 24756054

2014

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 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 CTD_human 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 CausalMutation 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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation CLINVAR Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy. 24016420

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation CLINVAR [Mutation analysis of FAH gene in patients with tyrosinemia type 1]. 23927806

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR The fate of tyrosinaemic Hungarian patients before the NTBC aera. 24555242

2013

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 GeneticVariation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 22975760

2013

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation 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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis. 22002443

2012

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation 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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation 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
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker CLINGEN 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 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 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 CausalMutation CLINVAR Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family. 23193487

2012

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR Tyrosinemia type 1 in Spain: mutational analysis, treatment and long-term outcome. 21752152

2011

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 CausalMutation CLINVAR Mutation spectrum of fumarylacetoacetase gene and clinical aspects of tyrosinemia type I disease. 23430822

2011

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 GeneticVariation CLINVAR Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. 21764616

2011