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: 27032
Gene Symbol: ATP2C1
ATP2C1
P98194 ATPase secretory pathway Ca2+ transporting 1 Transporter 45 0.663 0.423 1.00 0.100 None 0 0
Entrez Id: 128240
Gene Symbol: NAXE
NAXE
Q8NCW5 NAD(P)HX epimerase 41 0.743 0.346 2.4E-06 0.100 None 0 0
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
Q13753 laminin subunit gamma 2 Enzyme modulator 602 0.389 0.923 2.9E-12 0.100 None 0 0
Entrez Id: 3914
Gene Symbol: LAMB3
LAMB3
Q13751 laminin subunit beta 3 Enzyme modulator 115 0.558 0.692 2.3E-15 0.100 None 0 0
Entrez Id: 3728
Gene Symbol: JUP
JUP
P14923 junction plakoglobin 81 0.628 0.500 8.0E-04 0.100 None 0 0
Entrez Id: 3691
Gene Symbol: ITGB4
ITGB4
P16144 integrin subunit beta 4 Receptor 171 0.525 0.731 9.5E-19 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 151188
Gene Symbol: ARL6IP6
ARL6IP6
Q8N6S5 ADP ribosylation factor like GTPase 6 interacting protein 6 36 0.686 0.615 1.8E-02 0.100 None 0 0
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
Q16787 laminin subunit alpha 3 Enzyme modulator 110 0.576 0.731 8.8E-46 0.100 None 0 0
Entrez Id: 1832
Gene Symbol: DSP
DSP
P15924 desmoplakin Cellular structure 191 0.514 0.808 1.00 0.100 None 0 0
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
P02545 lamin A/C 824 0.384 0.885 1.00 0.100 None 0 0
Entrez Id: 9333
Gene Symbol: TGM5
TGM5
O43548 transglutaminase 5 Enzyme 48 0.656 0.615 2.4E-25 0.100 None 0 0
Entrez Id: 1475
Gene Symbol: CSTA
CSTA
P01040 cystatin A Enzyme modulator 97 0.592 0.731 1.5E-04 0.100 None 0 0
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
O75844 zinc metallopeptidase STE24 Enzyme 265 0.517 0.731 8.9E-16 0.100 None 0 0
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
Q13535 ATR serine/threonine kinase Kinase 321 0.456 0.923 3.5E-09 0.010 None 1.000 1 0 2018 2018
Entrez Id: 53342
Gene Symbol: IL17D
IL17D
Q8TAD2 interleukin 17D 259 0.464 0.808 0.20 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5317
Gene Symbol: PKP1
PKP1
Q13835 plakophilin 1 Cellular structure 54 0.659 0.462 5.8E-04 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5478
Gene Symbol: PPIA
PPIA
P62937 peptidylprolyl isomerase A 180 0.510 0.769 0.56 0.010 None 1.000 1 0 2010 2010
Entrez Id: 55364
Gene Symbol: IMPACT
IMPACT
Q9P2X3 impact RWD domain protein 85 0.593 0.808 4.8E-08 0.010 None < 0.001 1 0 2017 2017
Entrez Id: 5595
Gene Symbol: MAPK3
MAPK3
P27361 mitogen-activated protein kinase 3 Kinase 647 0.379 0.885 3.7E-02 0.010 None 1.000 1 0 2009 2009
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 56005
Gene Symbol: MYDGF
MYDGF
Q969H8 myeloid derived growth factor 295 0.451 0.846 3.5E-06 0.010 None 1.000 1 0 2017 2017