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: 100682260
Gene Symbol: HPPD
HPPD
Hypertelorism, preauricular sinus, punctal pits, and deafness 0.839 0.192
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.020 None 1.000 2 0 2017 2019
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 0.990 101 55 1981 2019
Entrez Id: 2954
Gene Symbol: GSTZ1
GSTZ1
glutathione S-transferase zeta 1 0.659 0.538 5.5E-11
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 4080
Gene Symbol: MAA
MAA
microphthalmia or anophthalmia and associated anomalies 0.666 0.577
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4143
Gene Symbol: MAT1A
MAT1A
methionine adenosyltransferase 1A 0.582 0.577 8.1E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 210
Gene Symbol: ALAD
ALAD
aminolevulinate dehydratase 0.556 0.615 5.6E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 7905
Gene Symbol: REEP5
REEP5
receptor accessory protein 5 0.633 0.615 7.0E-04
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2011 2011
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 6 0 2002 2019
Entrez Id: 255738
Gene Symbol: PCSK9
PCSK9
proprotein convertase subtilisin/kexin type 9 0.482 0.808 2.7E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4968
Gene Symbol: OGG1
OGG1
8-oxoguanine DNA glycosylase 0.453 0.808 3.9E-12
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7299
Gene Symbol: TYR
TYR
tyrosinase 0.473 0.808 5.0E-32
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2067
Gene Symbol: ERCC1
ERCC1
ERCC excision repair 1, endonuclease non-catalytic subunit 0.445 0.846 1.6E-07
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
alpha-L-iduronidase 0.499 0.846 3.8E-13
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2015 2015
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
Entrez Id: 174
Gene Symbol: AFP
AFP
alpha fetoprotein 0.429 0.885 1.1E-11
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 7276
Gene Symbol: TTR
TTR
transthyretin 0.423 0.885 0.52
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I
disease 0.010 None 1.000 1 0 2011 2011