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 Biomarker RGD Hereditary tyrosinemia type I (HTI) is a metabolic genetic disorder caused by mutation of fumarylacetoacetate hydrolase (FAH). 29507093

2018

Entrez Id: 2184
Gene Symbol: FAH
FAH
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
1.000 Biomarker RGD The Fah(-/-) rats faithfully represented major phenotypic and biochemical manifestations of human HT1, including hypertyrosinemia, liver failure, and renal tubular damage. 27510266

2016