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: 5310
Gene Symbol: PKD1
PKD1
P98161 polycystin 1, transient receptor potential channel interacting 217 0.493 0.769 1.00 0.100 None 1.000 11 0 1994 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 0 0
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
Q7Z3B3 KAT8 regulatory NSL complex subunit 1 140 0.592 0.731 1.00 0.100 None 0 0
Entrez Id: 7490
Gene Symbol: WT1
WT1
P19544 WT1 transcription factor Nucleic acid binding 446 0.422 0.808 1.00 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 0.090 None 1.000 9 0 1994 2015
Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
P51843 nuclear receptor subfamily 0 group B member 1 Nuclear receptor 222 0.494 0.808 0.97 0.050 None 1.000 5 0 1998 2006
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.020 None 1.000 2 0 2007 2015
Entrez Id: 11141
Gene Symbol: IL1RAPL1
IL1RAPL1
Q9NZN1 interleukin 1 receptor accessory protein like 1 Receptor 103 0.617 0.692 1.00 0.020 None 1.000 2 0 2003 2011
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2013 2016
Entrez Id: 5163
Gene Symbol: PDK1
PDK1
Q15118 pyruvate dehydrogenase kinase 1 Kinase 164 0.510 0.808 1.1E-05 0.010 None 1.000 1 0 2002 2002
Entrez Id: 57060
Gene Symbol: PCBP4
PCBP4
P57723 poly(rC) binding protein 4 Enzyme 147 0.523 0.808 2.4E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5625
Gene Symbol: PRODH
PRODH
O43272 proline dehydrogenase 1 Enzyme 85 0.612 0.692 5.4E-12 0.010 None 1.000 1 0 1996 1996
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1
Q15139 protein kinase D1 Kinase 171 0.531 0.846 6.6E-07 0.010 None 1.000 1 0 2007 2007
Entrez Id: 55824
Gene Symbol: PAG1
PAG1
Q9NWQ8 phosphoprotein membrane anchor with glycosphingolipid microdomains 1 174 0.505 0.808 1.8E-02 0.010 None 1.000 1 0 2007 2007
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.010 None 1.000 1 0 1991 1991
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 1996 1996
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
P49335 POU class 3 homeobox 4 65 0.633 0.654 0.57 0.010 None 1.000 1 0 1999 1999
Entrez Id: 5956
Gene Symbol: OPN1LW
OPN1LW
P04000 opsin 1, long wave sensitive G-protein coupled receptor 197 0.497 0.808 0.98 0.010 None 1.000 1 0 2007 2007
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 861
Gene Symbol: RUNX1
RUNX1
Q01196 RUNX family transcription factor 1 Transcription factor 412 0.425 0.808 0.65 0.010 None 1.000 1 0 2016 2016
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7380
Gene Symbol: UPK3A
UPK3A
O75631 uroplakin 3A 25 0.711 0.231 1.1E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
Q15672 twist family bHLH transcription factor 1 Transcription factor 559 0.397 0.846 0.34 0.010 None 1.000 1 0 2005 2005
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.010 None 1.000 1 0 2007 2007
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 2006 2006