Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay. 15638932

2005
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR To understand the possible impact of NMD on the pathogenesis of hereditary tyrosinemia type I, a severe metabolic disease caused by fumarylacetoacetate hydrolase (FAH) deficiency, we examined the metabolism of FAH mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from patients and their parents. 15465000

2004
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR Simple detection of a (Finnish) hereditary tyrosinemia type 1 mutation. 8723698

1996
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR Fumarylacetoacetase mutations in tyrosinaemia type I. 8829657

1996
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. 7942842

1994
dbSNP: rs80338899
rs80338899
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		A 0.700 CausalMutation CLINVAR Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I. 8162054

1994