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: 1590
Gene Symbol: CYP21A1P
CYP21A1P 		cytochrome P450 family 21 subfamily A member 1, pseudogene 14 0.780 0.500 0.010 None 1.000 1 0 2019 2019
Entrez Id: 791254
Gene Symbol: EDS8
EDS8 		Ehlers-Danlos syndrome, type VIII 7 0.839 0.269 0.010 None 1.000 1 0 2013 2013
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2 		Q5S007 leucine rich repeat kinase 2 Kinase 231 0.510 0.808 2.6E-30 0.010 None 1.000 1 0 2015 2015
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ 		Q9HC77 centromere protein J Enzyme 150 0.546 0.846 2.1E-27 0.010 None 1.000 1 0 2017 2017
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1 		Q13201 multimerin 1 272 0.465 0.846 2.1E-25 0.010 None 1.000 1 0 2012 2012
Entrez Id: 7450
Gene Symbol: VWF
VWF 		P04275 von Willebrand factor Enzyme modulator 498 0.408 0.885 3.2E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 50509
Gene Symbol: COL5A3
COL5A3 		P25940 collagen type V alpha 3 chain 5 0.890 0.231 3.3E-20 0.010 None 1.000 1 0 2000 2000
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.250 None 1.000 5 0 2001 2018
Entrez Id: 7850
Gene Symbol: IL1R2
IL1R2 		P27930 interleukin 1 receptor type 2 Receptor 76 0.593 0.846 6.5E-15 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.020 None 1.000 2 0 1999 2005
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2 		Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 158 0.570 0.692 2.6E-11 0.010 None 1.000 1 0 2014 2014
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1 		Q8IUX7 AE binding protein 1 69 0.631 0.654 7.3E-11 0.030 None 1.000 3 0 2018 2019
Entrez Id: 5047
Gene Symbol: PAEP
PAEP 		P09466 progestagen associated endometrial protein Enzyme 397 0.430 0.846 3.1E-08 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57107
Gene Symbol: PDSS2
PDSS2 		Q86YH6 decaprenyl diphosphate synthase subunit 2 83 0.626 0.577 4.4E-08 0.020 None 1.000 2 0 2017 2018
Entrez Id: 11262
Gene Symbol: SP140
SP140 		Q13342 SP140 nuclear body protein 32 0.691 0.577 5.0E-08 0.010 None 1.000 1 0 2016 2016
Entrez Id: 28954
Gene Symbol: REM1
REM1 		O75628 RRAD and GEM like GTPase 1 177 0.531 0.885 5.3E-08 0.040 None 1.000 4 0 2002 2019
Entrez Id: 5352
Gene Symbol: PLOD2
PLOD2 		O00469 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 Enzyme 114 0.559 0.654 6.7E-08 0.010 None 1.000 1 0 2004 2004
Entrez Id: 55033
Gene Symbol: FKBP14
FKBP14 		Q9NWM8 FKBP prolyl isomerase 14 60 0.650 0.654 1.5E-06 0.060 None 1.000 6 0 2012 2019
Entrez Id: 9507
Gene Symbol: ADAMTS4
ADAMTS4 		O75173 ADAM metallopeptidase with thrombospondin type 1 motif 4 Enzyme 84 0.582 0.692 2.0E-06 0.040 None 1.000 4 0 2001 2016
Entrez Id: 9917
Gene Symbol: FAM20B
FAM20B 		O75063 FAM20B glycosaminoglycan xylosylkinase 7 0.861 0.308 3.9E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4882
Gene Symbol: NPR2
NPR2 		P20594 natriuretic peptide receptor 2 Kinase 122 0.573 0.615 4.2E-05 0.010 None 1.000 1 0 2016 2016
Entrez Id: 11285
Gene Symbol: B4GALT7
B4GALT7 		Q9UBV7 beta-1,4-galactosyltransferase 7 79 0.628 0.654 1.1E-04 0.100 None 0.909 11 1 2002 2019
Entrez Id: 54797
Gene Symbol: MED18
MED18 		Q9BUE0 mediator complex subunit 18 24 0.736 0.423 1.6E-04 0.020 None 1.000 2 0 2016 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		P08686 cytochrome P450 family 21 subfamily A member 2 166 0.525 0.769 2.6E-04 0.040 None 1.000 4 0 2009 2018
Entrez Id: 3484
Gene Symbol: IGFBP1
IGFBP1 		P08833 insulin like growth factor binding protein 1 Enzyme modulator 191 0.502 0.808 9.5E-04 0.010 None 1.000 1 0 2008 2008