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: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.040 None 1.000 4 0 2009 2015
Entrez Id: 619406
Gene Symbol: HPE8
HPE8 		holoprosencephaly 8 4 0.890 0.154 0.030 None 1.000 3 0 2005 2012
Entrez Id: 106049960
Gene Symbol: SBE2
SBE2 		SHH brain enhancer 2 2 0.931 0.154 0.010 None < 0.001 1 0 2008 2008
Entrez Id: 3244
Gene Symbol: HPE1
HPE1 		holoprosencephaly 1, alobar 3 0.890 0.115 0.310 None 1.000 1 0 1995 1995
Entrez Id: 23019
Gene Symbol: CNOT1
CNOT1 		A5YKK6 CCR4-NOT transcription complex subunit 1 Transcription factor 42 0.674 0.577 1.00 0.020 None 0.500 2 0 2019 2019
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1 		O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.010 None 1.000 1 0 2003 2003
Entrez Id: 28514
Gene Symbol: DLL1
DLL1 		O00548 delta like canonical Notch ligand 1 212 0.492 0.808 1.00 0.110 None 1.000 1 0 2011 2011
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		O14497 AT-rich interaction domain 1A 341 0.455 0.846 1.00 0.100 None 0 1
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		O14686 lysine methyltransferase 2D 320 0.465 0.808 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 4659
Gene Symbol: PPP1R12A
PPP1R12A 		O14974 protein phosphatase 1 regulatory subunit 12A 59 0.626 0.615 1.00 0.300 None 1.000 1 0 2020 2020
Entrez Id: 9723
Gene Symbol: SEMA3E
SEMA3E 		O15041 semaphorin 3E Signaling 184 0.515 0.769 8.7E-09 0.100 None 0 0
Entrez Id: 3199
Gene Symbol: HOXA2
HOXA2 		O43364 homeobox A2 26 0.700 0.385 0.20 0.100 None 0 0
Entrez Id: 9051
Gene Symbol: PSTPIP1
PSTPIP1 		O43586 proline-serine-threonine phosphatase interacting protein 1 Cellular structure 54 0.650 0.577 2.5E-06 0.300 limited 0 0
Entrez Id: 699
Gene Symbol: BUB1
BUB1 		O43683 BUB1 mitotic checkpoint serine/threonine kinase Kinase 162 0.528 0.731 4.9E-09 0.100 None 0 0
Entrez Id: 9184
Gene Symbol: BUB3
BUB3 		O43684 BUB3 mitotic checkpoint protein Nucleic acid binding 96 0.588 0.615 0.81 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B 		O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.100 None 0 0
Entrez Id: 2218
Gene Symbol: FKTN
FKTN 		O75072 fukutin 211 0.511 0.692 8.7E-07 0.100 None 0 0
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		O75360 PROP paired-like homeobox 1 117 0.576 0.615 8.8E-02 0.100 None 0 0
Entrez Id: 8928
Gene Symbol: FOXH1
FOXH1 		O75593 forkhead box H1 67 0.615 0.654 4.2E-02 0.420 limited 1.000 3 0 2008 2016
Entrez Id: 22943
Gene Symbol: DKK1
DKK1 		O94907 dickkopf WNT signaling pathway inhibitor 1 372 0.439 0.885 0.17 0.010 None 1.000 1 0 2000 2000
Entrez Id: 6496
Gene Symbol: SIX3
SIX3 		O95343 SIX homeobox 3 Transcription factor 117 0.560 0.692 0.95 0.700 strong 1.000 28 0 1996 2018
Entrez Id: 7546
Gene Symbol: ZIC2
ZIC2 		O95409 Zic family member 2 Transcription factor 125 0.556 0.769 0.97 0.500 None 1.000 37 3 1998 2020
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 173 0.558 0.615 2.3E-21 0.200 None 0 0
Entrez Id: 8785
Gene Symbol: MATN4
MATN4 		O95460 matrilin 4 Receptor 14 0.769 0.308 1.1E-08 0.100 None 0 1
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1 		O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0