Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2184
Gene Symbol: FAH
FAH
fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 1.000 definitive 0.990 26 55 1981 2019
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.573 0.769 5.3E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.360 None 1.000 0 0 2002 2019
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.492 0.846 6.9E-03
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.300 None 0 0