Source: ALL
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: 3028
Gene Symbol: HSD17B10
HSD17B10 		Q99714 hydroxysteroid 17-beta dehydrogenase 10 Enzyme 65 0.656 0.538 0.94 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4582
Gene Symbol: MUC1
MUC1 		P15941 mucin 1, cell surface associated 594 0.384 0.885 1.9E-02 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4598
Gene Symbol: MVK
MVK 		Q03426 mevalonate kinase Kinase 139 0.576 0.731 0.17 0.010 None 1.000 1 0 2010 2010
Entrez Id: 4864
Gene Symbol: NPC1
NPC1 		O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.010 None 1.000 1 0 2018 2018
Entrez Id: 51179
Gene Symbol: HAO2
HAO2 		Q9NYQ3 hydroxyacid oxidase 2 Enzyme 22 0.736 0.308 6.0E-10 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.010 None 1.000 1 0 2014 2014
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		Q9Y234 lipoyltransferase 1 Enzyme 55 0.674 0.462 3.8E-08 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		O15305 phosphomannomutase 2 Enzyme 214 0.535 0.769 1.4E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		P11586 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 Enzyme 121 0.554 0.769 4.5E-03 0.010 None 1.000 1 0 2015 2015
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: 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: 3030
Gene Symbol: HADHA
HADHA 		P40939 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha Enzyme 154 0.569 0.769 4.4E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		P06865 hexosaminidase subunit alpha Enzyme 79 0.633 0.615 1.3E-11 0.010 None 1.000 1 0 1992 1992
Entrez Id: 3074
Gene Symbol: HEXB
HEXB 		P07686 hexosaminidase subunit beta Enzyme 62 0.644 0.654 3.5E-10 0.010 None 1.000 1 0 2003 2003
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: 3931
Gene Symbol: LCAT
LCAT 		P04180 lecithin-cholesterol acyltransferase Enzyme 94 0.588 0.654 8.1E-02 0.010 None 1.000 1 0 1987 1987
Entrez Id: 4942
Gene Symbol: OAT
OAT 		P04181 ornithine aminotransferase Enzyme 92 0.593 0.731 7.7E-07 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4360
Gene Symbol: MRC1
MRC1 		P22897 mannose receptor C-type 1 431 0.413 0.846 0.94 0.010 None 1.000 1 0 1983 1983
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: 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: 54119
Gene Symbol: EIM
EIM 		Infantile myoclonic epilepsy 8 0.839 0.269 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54363
Gene Symbol: HAO1
HAO1 		Q9UJM8 hydroxyacid oxidase 1 14 0.780 0.269 1.5E-07 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7086
Gene Symbol: TKT
TKT 		P29401 transketolase Enzyme 92 0.595 0.769 6.7E-03 0.010 None 1.000 1 0 2016 2016
Entrez Id: 7739
Gene Symbol: ZNF185
ZNF185 		O15231 zinc finger protein 185 with LIM domain 31 0.711 0.500 6.3E-13 0.010 None 1.000 1 0 2018 2018