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 0.624 0.483 6.8E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 1.000 0.975 75 39 1990 2017
Entrez Id: 3242
Gene Symbol: HPD
HPD
4-hydroxyphenylpyruvate dioxygenase 0.619 0.517 4.6E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.310 1.000 1 0 2010 2010
Entrez Id: 6898
Gene Symbol: TAT
TAT
tyrosine aminotransferase 0.527 0.759 4.7E-03
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.300 0 0
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.577 0.552 1.1E-07
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 1.000 1 0 2011 2011
Entrez Id: 210
Gene Symbol: ALAD
ALAD
aminolevulinate dehydratase 0.550 0.483 2.9E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 1.000 1 0 1984 1984
Entrez Id: 4143
Gene Symbol: MAT1A
MAT1A
methionine adenosyltransferase 1A 0.614 0.517 3.8E-03
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 1.000 1 0 2011 2011
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.471 0.897 0.55
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 1.000 1 0 2011 2011