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: 1717
Gene Symbol: DHCR7
DHCR7 		Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		Q92889 ERCC excision repair 4, endonuclease catalytic subunit Enzyme 325 0.468 0.846 1.4E-12 0.100 None 0 0
Entrez Id: 51265
Gene Symbol: CDKL3
CDKL3 		Q8IVW4 cyclin dependent kinase like 3 Kinase 5 0.890 0.231 2.3E-12 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10157
Gene Symbol: AASS
AASS 		Q9UDR5 aminoadipate-semialdehyde synthase 34 0.695 0.577 2.3E-12 0.100 None 0 0
Entrez Id: 100
Gene Symbol: ADA
ADA 		P00813 adenosine deaminase Enzyme 379 0.440 0.885 2.9E-12 0.010 None 1.000 1 0 2006 2006
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		Q6NUK1 solute carrier family 25 member 24 Transporter 141 0.575 0.731 3.4E-12 0.100 None 0 0
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 0 1
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 5648
Gene Symbol: MASP1
MASP1 		P48740 mannan binding lectin serine peptidase 1 Enzyme 123 0.565 0.885 1.2E-11 0.100 None 0 0
Entrez Id: 4668
Gene Symbol: NAGA
NAGA 		P17050 alpha-N-acetylgalactosaminidase 86 0.647 0.538 1.8E-11 0.100 None 0 0
Entrez Id: 81562
Gene Symbol: LMAN2L
LMAN2L 		Q9H0V9 lectin, mannose binding 2 like Transporter 59 0.641 0.385 2.0E-11 0.100 None 0 0
Entrez Id: 421
Gene Symbol: ARVCF
ARVCF 		O00192 ARVCF delta catenin family member Cellular structure 151 0.540 0.769 5.0E-11 0.100 None 0 0
Entrez Id: 8309
Gene Symbol: ACOX2
ACOX2 		Q99424 acyl-CoA oxidase 2 Enzyme 17 0.769 0.423 2.2E-10 0.100 None 0 0
Entrez Id: 2720
Gene Symbol: GLB1
GLB1 		P16278 galactosidase beta 1 Enzyme 385 0.448 0.808 7.9E-10 0.100 None 0 0
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.100 None 0 0
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1 		Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 0
Entrez Id: 84282
Gene Symbol: RNF135
RNF135 		Q8IUD6 ring finger protein 135 41 0.686 0.500 2.2E-09 0.100 None 0 0
Entrez Id: 84572
Gene Symbol: GNPTG
GNPTG 		Q9UJJ9 N-acetylglucosamine-1-phosphate transferase subunit gamma Enzyme 36 0.705 0.423 4.6E-09 0.100 None 0 0
Entrez Id: 8888
Gene Symbol: MCM3AP
MCM3AP 		O60318 minichromosome maintenance complex component 3 associated protein 58 0.647 0.654 5.2E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 0 0
Entrez Id: 8733
Gene Symbol: GPAA1
GPAA1 		O43292 glycosylphosphatidylinositol anchor attachment 1 68 0.647 0.538 5.5E-09 0.100 None 0 0
Entrez Id: 5476
Gene Symbol: CTSA
CTSA 		P10619 cathepsin A Enzyme 73 0.619 0.731 5.9E-09 0.100 None 1.000 3 2 1996 2014
Entrez Id: 10141
Gene Symbol: LINC01587
LINC01587 		Q99440 long intergenic non-protein coding RNA 1587 3 1.000 0.154 7.5E-09 0.010 None 1.000 1 0 2008 2008
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		O60706 ATP binding cassette subfamily C member 9 Transporter 175 0.552 0.692 9.4E-09 0.100 None 0 0
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 115 0.606 0.577 1.2E-08 0.100 None 0 0