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: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
P36543 ATPase H+ transporting V1 subunit E1 Transporter 105 0.610 0.769 0.53 0.100 None 0 0
Entrez Id: 5592
Gene Symbol: PRKG1
PRKG1
Q13976 protein kinase cGMP-dependent 1 Kinase 114 0.603 0.769 1.00 0.100 None 0 0
Entrez Id: 140683
Gene Symbol: BPIFA2
BPIFA2
Q96DR5 BPI fold containing family A member 2 80 0.608 0.808 8.0E-07 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2065
Gene Symbol: ERBB3
ERBB3
P21860 erb-b2 receptor tyrosine kinase 3 Kinase 318 0.448 0.808 1.7E-15 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4087
Gene Symbol: SMAD2
SMAD2
Q15796 SMAD family member 2 Transcription factor 289 0.456 0.808 1.00 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
Q13485 SMAD family member 4 Transcription factor 575 0.401 0.808 1.00 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 5723
Gene Symbol: PSPH
PSPH
P78330 phosphoserine phosphatase Enzyme 114 0.570 0.808 9.7E-04 0.010 None 1.000 1 0 2017 2017
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.010 None 1.000 1 0 2018 2018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
P55017 solute carrier family 12 member 3 Transporter 252 0.493 0.808 3.0E-32 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.110 None 1.000 1 0 2019 2019
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.100 None 0 0
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1
P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 56244
Gene Symbol: BTNL2
BTNL2
Q9UIR0 butyrophilin like 2 Enzyme modulator 145 0.546 0.808 8.6E-11 0.100 None 0 0
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3
P10600 transforming growth factor beta 3 Signaling 230 0.498 0.808 0.99 0.100 None 0 0
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
P49815 TSC complex subunit 2 Enzyme modulator 410 0.439 0.808 1.00 0.100 None 0 0
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4
Q15303 erb-b2 receptor tyrosine kinase 4 Kinase 317 0.455 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 238
Gene Symbol: ALK
ALK
Q9UM73 ALK receptor tyrosine kinase Kinase 519 0.396 0.846 3.2E-06 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4477
Gene Symbol: MSMB
MSMB
P08118 microseminoprotein beta Signaling 195 0.498 0.846 1.6E-02 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5443
Gene Symbol: POMC
POMC
P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2019 2019
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 2019 2019
Entrez Id: 5967
Gene Symbol: REG1A
REG1A
P05451 regenerating family member 1 alpha 264 0.467 0.846 1.3E-05 0.010 None 1.000 1 0 2017 2017
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
P29965 CD40 ligand Signaling 453 0.414 0.846 0.72 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 1
Entrez Id: 4015
Gene Symbol: LOX
LOX
P28300 lysyl oxidase 328 0.447 0.846 0.99 0.100 None 0 0