Entrez Id: |
2184 |
Gene Symbol: |
FAH |
FAH
|
P16930
|
fumarylacetoacetate hydrolase
|
|
78
|
0.612 |
0.538 |
4.0E-17 |
1.000 |
definitive
|
0.990 |
101
|
55
|
1981 |
2019 |
Entrez Id: |
3242 |
Gene Symbol: |
HPD |
HPD
|
P32754
|
4-hydroxyphenylpyruvate dioxygenase
|
Enzyme
|
102
|
0.573 |
0.769 |
5.3E-04 |
0.360 |
None
|
1.000 |
6
|
0
|
2002 |
2019 |
Entrez Id: |
6898 |
Gene Symbol: |
TAT |
TAT
|
P17735
|
tyrosine aminotransferase
|
|
230
|
0.492 |
0.846 |
6.9E-03 |
0.300 |
None
|
|
0
|
0
|
|
|
Entrez Id: |
100682260 |
Gene Symbol: |
HPPD |
HPPD
|
|
Hypertelorism, preauricular sinus, punctal pits, and deafness
|
|
7
|
0.839 |
0.192 |
|
0.020 |
None
|
1.000 |
2
|
0
|
2017 |
2019 |
Entrez Id: |
4143 |
Gene Symbol: |
MAT1A |
MAT1A
|
Q00266
|
methionine adenosyltransferase 1A
|
Enzyme
|
103
|
0.582 |
0.577 |
8.1E-04 |
0.010 |
None
|
1.000 |
1
|
0
|
2011 |
2011 |
Entrez Id: |
4968 |
Gene Symbol: |
OGG1 |
OGG1
|
O15527
|
8-oxoguanine DNA glycosylase
|
|
313
|
0.453 |
0.808 |
3.9E-12 |
0.010 |
None
|
1.000 |
1
|
0
|
2012 |
2012 |
Entrez Id: |
5009 |
Gene Symbol: |
OTC |
OTC
|
P00480
|
ornithine carbamoyltransferase
|
|
135
|
0.565 |
0.846 |
0.87 |
0.010 |
None
|
1.000 |
1
|
0
|
2015 |
2015 |
Entrez Id: |
7276 |
Gene Symbol: |
TTR |
TTR
|
P02766
|
transthyretin
|
Transporter
|
461
|
0.423 |
0.885 |
0.52 |
0.010 |
None
|
1.000 |
1
|
0
|
2011 |
2011 |
Entrez Id: |
7299 |
Gene Symbol: |
TYR |
TYR
|
P14679
|
tyrosinase
|
Enzyme
|
281
|
0.473 |
0.808 |
5.0E-32 |
0.010 |
None
|
1.000 |
1
|
0
|
2016 |
2016 |
Entrez Id: |
4080 |
Gene Symbol: |
MAA |
MAA
|
|
microphthalmia or anophthalmia and associated anomalies
|
|
37
|
0.666 |
0.577 |
|
0.010 |
None
|
1.000 |
1
|
0
|
2005 |
2005 |
Entrez Id: |
38 |
Gene Symbol: |
ACAT1 |
ACAT1
|
P24752
|
acetyl-CoA acetyltransferase 1
|
Enzyme
|
176
|
0.538 |
0.692 |
9.9E-08 |
0.010 |
None
|
1.000 |
1
|
0
|
2011 |
2011 |
Entrez Id: |
3425 |
Gene Symbol: |
IDUA |
IDUA
|
P35475
|
alpha-L-iduronidase
|
Enzyme
|
258
|
0.499 |
0.846 |
3.8E-13 |
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
2954 |
Gene Symbol: |
GSTZ1 |
GSTZ1
|
O43708
|
glutathione S-transferase zeta 1
|
|
38
|
0.659 |
0.538 |
5.5E-11 |
0.010 |
None
|
1.000 |
1
|
0
|
1999 |
1999 |
Entrez Id: |
255738 |
Gene Symbol: |
PCSK9 |
PCSK9
|
Q8NBP7
|
proprotein convertase subtilisin/kexin type 9
|
Enzyme
|
257
|
0.482 |
0.808 |
2.7E-17 |
0.010 |
None
|
1.000 |
1
|
0
|
2018 |
2018 |
Entrez Id: |
210 |
Gene Symbol: |
ALAD |
ALAD
|
P13716
|
aminolevulinate dehydratase
|
Enzyme
|
135
|
0.556 |
0.615 |
5.6E-05 |
0.010 |
None
|
1.000 |
1
|
0
|
1983 |
1983 |
Entrez Id: |
2067 |
Gene Symbol: |
ERCC1 |
ERCC1
|
P07992
|
ERCC excision repair 1, endonuclease non-catalytic subunit
|
Enzyme
|
345
|
0.445 |
0.846 |
1.6E-07 |
0.010 |
None
|
1.000 |
1
|
0
|
2012 |
2012 |
Entrez Id: |
174 |
Gene Symbol: |
AFP |
AFP
|
P02771
|
alpha fetoprotein
|
Transporter
|
392
|
0.429 |
0.885 |
1.1E-11 |
0.010 |
None
|
1.000 |
1
|
0
|
2017 |
2017 |
Entrez Id: |
7905 |
Gene Symbol: |
REEP5 |
REEP5
|
Q00765
|
receptor accessory protein 5
|
Transporter
|
49
|
0.633 |
0.615 |
7.0E-04 |
0.010 |
None
|
1.000 |
1
|
0
|
2012 |
2012 |