Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 60 0.700 0.500 2.6E-13 0.010 None 1.000 1 0 2014 2014
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
P24752 acetyl-CoA acetyltransferase 1 Enzyme 176 0.538 0.692 9.9E-08 0.020 None 1.000 2 0 2004 2010
Entrez Id: 34
Gene Symbol: ACADM
ACADM
P11310 acyl-CoA dehydrogenase medium chain Enzyme 94 0.638 0.462 2.1E-12 0.030 None 1.000 3 0 1993 2016
Entrez Id: 197322
Gene Symbol: ACSF3
ACSF3
Q4G176 acyl-CoA synthetase family member 3 Enzyme 35 0.743 0.308 2.3E-26 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9719
Gene Symbol: ADAMTSL2
ADAMTSL2
Q86TH1 ADAMTS like 2 Enzyme 61 0.666 0.346 1.6E-03 0.300 None 1.000 1 0 2008 2008
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.020 None 1.000 2 0 2011 2013
Entrez Id: 64902
Gene Symbol: AGXT2
AGXT2
Q9BYV1 alanine--glyoxylate aminotransferase 2 25 0.729 0.385 3.7E-28 0.300 None 1.000 1 0 2011 2011
Entrez Id: 189
Gene Symbol: AGXT
AGXT
P21549 alanine--glyoxylate and serine--pyruvate aminotransferase Enzyme 94 0.593 0.731 1.2E-07 0.010 None 1.000 1 0 2003 2003
Entrez Id: 440138
Gene Symbol: ALG11
ALG11
Q2TAA5 ALG11 alpha-1,2-mannosyltransferase 47 0.722 0.346 6.2E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 249
Gene Symbol: ALPL
ALPL
P05186 alkaline phosphatase, biomineralization associated Enzyme 190 0.546 0.769 3.6E-04 0.080 None 1.000 8 0 2000 2019
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
P35475 alpha-L-iduronidase Enzyme 258 0.499 0.846 3.8E-13 0.020 None 1.000 2 0 2019 2019
Entrez Id: 95
Gene Symbol: ACY1
ACY1
Q03154 aminoacylase 1 62 0.653 0.577 6.9E-09 0.030 None 1.000 3 0 2005 2014
Entrez Id: 383
Gene Symbol: ARG1
ARG1
P05089 arginase 1 Enzyme 273 0.476 0.846 3.6E-04 0.010 None 1.000 1 0 2014 2014
Entrez Id: 445
Gene Symbol: ASS1
ASS1
P00966 argininosuccinate synthase 1 Enzyme 163 0.523 0.731 1.5E-09 0.020 None 1.000 2 0 1983 2001
Entrez Id: 440
Gene Symbol: ASNS
ASNS
P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 443
Gene Symbol: ASPA
ASPA
P45381 aspartoacylase 123 0.564 0.731 4.1E-04 0.010 None 1.000 1 0 2012 2012
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
O14678 ATP binding cassette subfamily D member 4 Transporter 26 0.769 0.308 1.3E-12 0.300 None 1.000 1 0 2012 2012
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.010 None 1.000 1 0 2013 2013
Entrez Id: 760
Gene Symbol: CA2
CA2
P00918 carbonic anhydrase 2 210 0.506 0.808 1.7E-06 0.020 None 1.000 2 0 1985 1986
Entrez Id: 1066
Gene Symbol: CES1
CES1
P23141 carboxylesterase 1 Enzyme 80 0.590 0.692 3.3E-15 0.300 None 1.000 1 0 2008 2008
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 57017
Gene Symbol: COQ9
COQ9
O75208 coenzyme Q9 41 0.700 0.423 5.5E-06 0.010 None 1.000 1 0 2020 2020
Entrez Id: 875
Gene Symbol: CBS
CBS
P0DN79 P35520 cystathionine beta-synthase Enzyme 295 0.465 0.885 3.1E-05 0.060 None 1.000 6 2 2001 2019
Entrez Id: 102724560
Gene Symbol: CBSL
CBSL
P0DN79 P35520 cystathionine beta-synthase like 129 0.540 0.808 0.040 None 1.000 4 0 2001 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 167 0.538 0.731 5.3E-19 0.030 None 1.000 3 0 1992 2018