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: 1896
Gene Symbol: EDA
EDA 		Q92838 ectodysplasin A 150 0.553 0.808 0.97 0.010 None 1.000 1 0 1991 1991
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: 23118
Gene Symbol: TAB2
TAB2 		Q9NYJ8 TGF-beta activated kinase 1 (MAP3K7) binding protein 2 72 0.617 0.654 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.010 None 1.000 1 0 1988 1988
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: 5141
Gene Symbol: PDE4A
PDE4A 		P27815 phosphodiesterase 4A 168 0.523 0.846 0.98 0.010 None 1.000 1 0 2019 2019
Entrez Id: 633
Gene Symbol: BGN
BGN 		P21810 biglycan 253 0.484 0.808 0.45 0.010 None 1.000 1 0 2006 2006
Entrez Id: 6615
Gene Symbol: SNAI1
SNAI1 		O95863 snail family transcriptional repressor 1 243 0.474 0.808 0.22 0.010 None 1.000 1 0 2018 2018
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: 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: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		P62736 actin alpha 2, smooth muscle Cellular structure 200 0.508 0.846 0.93 0.010 None 1.000 1 0 2019 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.010 None 1.000 1 0 2004 2004
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 89 0.638 0.654 0.45 0.100 None 1.000 12 0 2010 2018
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		O95450 ADAM metallopeptidase with thrombospondin type 1 motif 2 Enzyme 138 0.579 0.808 0.97 0.090 None 1.000 9 0 2001 2019
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: 1351
Gene Symbol: COX8A
COX8A 		P10176 cytochrome c oxidase subunit 8A Enzyme 526 0.400 0.846 0.12 0.040 None 0.750 4 0 1990 2013
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: 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: 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: 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: 5743
Gene Symbol: PTGS2
PTGS2 		P35354 prostaglandin-endoperoxide synthase 2 Enzyme 1234 0.314 0.962 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 715
Gene Symbol: C1R
C1R 		P00736 complement C1r Enzyme 96 0.638 0.654 0.78 0.010 None 1.000 1 0 2018 2018
Entrez Id: 8705
Gene Symbol: B3GALT4
B3GALT4 		O96024 beta-1,3-galactosyltransferase 4 Enzyme 9 0.792 0.308 3.0E-02 0.010 None 1.000 1 0 2014 2014