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: 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: 100505887
Gene Symbol: LINC01672
LINC01672 		long intergenic non-protein coding RNA 1672 268 0.462 0.846 0.010 None 1.000 1 0 2018 2018
Entrez Id: 283120
Gene Symbol: H19
H19 		H19 imprinted maternally expressed transcript 242 0.494 0.923 0.010 None 1.000 1 0 2014 2014
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: 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: 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: 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: 10165
Gene Symbol: SLC25A13
SLC25A13 		Q9UJS0 solute carrier family 25 member 13 Transporter 109 0.617 0.500 1.3E-24 0.010 None 1.000 1 0 2009 2009
Entrez Id: 29958
Gene Symbol: DMGDH
DMGDH 		Q9UI17 dimethylglycine dehydrogenase Enzyme 15 0.890 0.154 2.1E-24 0.020 None 1.000 2 0 1999 2001
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B 		Q9ULV0 myosin VB Cellular structure 60 0.641 0.731 3.4E-23 0.300 None 1.000 1 0 2008 2008
Entrez Id: 5053
Gene Symbol: PAH
PAH 		P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.080 None 1.000 8 0 1995 2019
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.320 None 1.000 3 0 2009 2018
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.010 None 1.000 1 0 2003 2003
Entrez Id: 7941
Gene Symbol: PLA2G7
PLA2G7 		Q13093 phospholipase A2 group VII Enzyme 136 0.537 0.769 5.3E-22 0.300 None 1.000 1 0 1996 1996
Entrez Id: 9154
Gene Symbol: SLC28A1
SLC28A1 		O00337 solute carrier family 28 member 1 Transporter 33 0.686 0.538 5.7E-20 0.010 None 1.000 1 0 2019 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
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: 2184
Gene Symbol: FAH
FAH 		P16930 fumarylacetoacetate hydrolase 78 0.612 0.538 4.0E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 8991
Gene Symbol: SELENBP1
SELENBP1 		Q13228 selenium binding protein 1 Immune response 214 0.493 0.846 3.2E-16 0.300 None 1.000 1 0 2018 2018
Entrez Id: 219972
Gene Symbol: MPEG1
MPEG1 		Q2M385 macrophage expressed 1 98 0.575 0.731 3.6E-16 0.020 None 1.000 2 0 2019 2019
Entrez Id: 6554
Gene Symbol: SLC10A1
SLC10A1 		Q14973 solute carrier family 10 member 1 Transporter 54 0.626 0.462 4.8E-16 0.010 None 1.000 1 0 2017 2017
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: 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: 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: 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