Source: ALL
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: 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: 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: 10046
Gene Symbol: MAMLD1
MAMLD1 		Q13495 mastermind like domain containing 1 52 0.650 0.500 0.63 0.010 None 1.000 1 0 1999 1999
Entrez Id: 1399
Gene Symbol: CRKL
CRKL 		P46109 CRK like proto-oncogene, adaptor protein 140 0.553 0.769 0.45 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2022
Gene Symbol: ENG
ENG 		P17813 endoglin 371 0.446 0.846 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 2262
Gene Symbol: GPC5
GPC5 		P78333 glypican 5 65 0.626 0.654 4.0E-10 0.010 None 1.000 1 0 2009 2009
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5 		Q9UJ90 potassium voltage-gated channel subfamily E regulatory subunit 5 47 0.666 0.500 0.12 0.010 None 1.000 1 0 1999 1999
Entrez Id: 2737
Gene Symbol: GLI3
GLI3 		P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		P69905 hemoglobin subunit alpha 1 200 0.508 0.808 6.7E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		P69905 hemoglobin subunit alpha 2 182 0.512 0.808 3.1E-03 0.010 None 1.000 1 0 2007 2007
Entrez Id: 3197
Gene Symbol: HOXA@
HOXA@ 		homeobox A cluster 66 0.599 0.654 0.010 None 1.000 1 0 2005 2005
Entrez Id: 3479
Gene Symbol: IGF1
IGF1 		P05019 insulin like growth factor 1 1206 0.318 0.885 0.27 0.010 None 1.000 1 0 2001 2001
Entrez Id: 407975
Gene Symbol: MIR17HG
MIR17HG 		Q75NE6 miR-17-92a-1 cluster host gene 224 0.483 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4129
Gene Symbol: MAOB
MAOB 		P27338 monoamine oxidase B 152 0.533 0.808 1.00 0.010 None 1.000 1 0 1992 1992
Entrez Id: 4155
Gene Symbol: MBP
MBP 		P02686 myelin basic protein 184 0.510 0.885 0.28 0.010 None 1.000 1 0 1998 1998
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: 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: 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: 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: 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: 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: 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: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.100 None 0 0
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		Q16394 exostosin glycosyltransferase 1 Enzyme 205 0.522 0.769 1.00 0.010 None 1.000 1 0 1995 1995