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: 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: 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: 1081
Gene Symbol: CGA
CGA
P01215 glycoprotein hormones, alpha polypeptide 180 0.508 0.808 0.35 0.010 None 1.000 1 0 1992 1992
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.010 None 1.000 1 0 1992 1992
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.010 None 1.000 1 0 1996 1996
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: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.020 None 1.000 2 0 1985 2001
Entrez Id: 7077
Gene Symbol: TIMP2
TIMP2
P16035 TIMP metallopeptidase inhibitor 2 Enzyme modulator 404 0.425 0.846 0.79 0.010 None 1.000 1 0 2003 2003
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: 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: 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: 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: 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
Entrez Id: 1634
Gene Symbol: DCN
DCN
P07585 decorin 297 0.457 0.808 0.31 0.260 None 0.833 6 0 2001 2010
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1
P36897 transforming growth factor beta receptor 1 Kinase 347 0.451 0.885 0.85 0.020 None 1.000 2 0 2006 2010
Entrez Id: 2660
Gene Symbol: MSTN
MSTN
O14793 myostatin Signaling 159 0.528 0.731 0.51 0.010 None 1.000 1 0 2010 2010
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: 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: 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: 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: 1282
Gene Symbol: COL4A1
COL4A1
P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1760
Gene Symbol: DMPK
DMPK
Q09013 DM1 protein kinase Kinase 96 0.603 0.692 3.8E-02 0.010 None 1.000 1 0 2013 2013
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
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: 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