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: 9517
Gene Symbol: SPTLC2
SPTLC2
O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 29 0.736 0.346 0.78 0.010 None 1.000 1 0 2018 2018
Entrez Id: 83483
Gene Symbol: PLVAP
PLVAP
Q9BX97 plasmalemma vesicle associated protein 40 0.695 0.538 2.3E-06 0.100 None 0 0
Entrez Id: 57217
Gene Symbol: TTC7A
TTC7A
Q9ULT0 tetratricopeptide repeat domain 7A 59 0.641 0.577 1.5E-31 0.100 None 0 0
Entrez Id: 4146
Gene Symbol: MATN1
MATN1
P21941 matrilin 1 Receptor 45 0.644 0.615 2.6E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9104
Gene Symbol: RGN
RGN
Q15493 regucalcin Enzyme 96 0.566 0.692 2.2E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3257
Gene Symbol: HPS1
HPS1
Q92902 HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 64 0.636 0.692 1.3E-07 0.100 None 0 0
Entrez Id: 3587
Gene Symbol: IL10RA
IL10RA
Q13651 interleukin 10 receptor subunit alpha Receptor 90 0.579 0.692 1.8E-02 0.100 None 0 0
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
Q99814 endothelial PAS domain protein 1 Transcription factor 293 0.454 0.731 0.60 0.010 None 1.000 1 0 2018 2018
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
P36894 bone morphogenetic protein receptor type 1A Kinase 203 0.522 0.731 0.90 0.100 None 0 0
Entrez Id: 7456
Gene Symbol: WIPF1
WIPF1
O43516 WAS/WASL interacting protein family member 1 108 0.584 0.731 0.90 0.100 None 0 0
Entrez Id: 7517
Gene Symbol: XRCC3
XRCC3
O43542 X-ray repair cross complementing 3 184 0.505 0.769 1.9E-10 0.010 None 1.000 1 1 2008 2008
Entrez Id: 94
Gene Symbol: ACVRL1
ACVRL1
P37023 activin A receptor like type 1 Kinase 224 0.493 0.769 9.7E-04 0.100 None 0 0
Entrez Id: 407055
Gene Symbol: MIR99A
MIR99A
microRNA 99a 122 0.536 0.808 0.010 None 1.000 1 0 2015 2015
Entrez Id: 7520
Gene Symbol: XRCC5
XRCC5
P13010 X-ray repair cross complementing 5 Enzyme 113 0.554 0.808 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
O96017 checkpoint kinase 2 Kinase 297 0.460 0.808 1.2E-24 0.100 None 0 1
Entrez Id: 26585
Gene Symbol: GREM1
GREM1
O60565 gremlin 1, DAN family BMP antagonist 179 0.508 0.808 0.47 0.100 None 0 0
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Q13485 SMAD family member 4 Transcription factor 575 0.401 0.808 1.00 0.100 None 0 0
Entrez Id: 6868
Gene Symbol: ADAM17
ADAM17
P78536 ADAM metallopeptidase domain 17 316 0.453 0.808 1.00 0.100 None 0 0
Entrez Id: 7454
Gene Symbol: WAS
WAS
P42768 WASP actin nucleation promoting factor Cellular structure 204 0.529 0.808 1.00 0.100 None 0 0
Entrez Id: 1523
Gene Symbol: CUX1
CUX1
P39880 Q13948 cut like homeobox 1 Transcription factor 283 0.465 0.846 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 3952
Gene Symbol: LEP
LEP
P41159 leptin 931 0.349 0.846 0.46 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4057
Gene Symbol: LTF
LTF
P02788 lactotransferrin Enzyme 133 0.543 0.846 1.3E-21 0.300 None 1.000 1 0 2005 2005
Entrez Id: 551
Gene Symbol: AVP
AVP
P01185 arginine vasopressin Signaling 454 0.437 0.846 7.4E-02 0.300 None 1.000 1 0 1982 1982
Entrez Id: 673
Gene Symbol: BRAF
BRAF
P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.010 None 1.000 1 2 2004 2004
Entrez Id: 2022
Gene Symbol: ENG
ENG
P17813 endoglin 371 0.446 0.846 1.00 0.100 None 0 0