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: 57216
Gene Symbol: VANGL2
VANGL2
Q9ULK5 VANGL planar cell polarity protein 2 78 0.588 0.615 0.84 0.060 None 1.000 6 0 2002 2017
Entrez Id: 81839
Gene Symbol: VANGL1
VANGL1
Q8TAA9 VANGL planar cell polarity protein 1 104 0.570 0.538 2.0E-02 0.040 None 1.000 4 0 2002 2002
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.110 None 1.000 2 1 2017 2017
Entrez Id: 401
Gene Symbol: PHOX2A
PHOX2A
O14813 paired like homeobox 2A 30 0.700 0.346 0.49 0.020 None 1.000 2 0 2004 2006
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L
Q8WUF5 protein phosphatase 1 regulatory subunit 13 like 122 0.539 0.692 3.2E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1123
Gene Symbol: CHN1
CHN1
P15882 chimerin 1 112 0.573 0.615 3.1E-02 0.110 None 1.000 1 0 2011 2011
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
Q96EY9 adenosine deaminase tRNA specific 3 25 0.736 0.385 5.6E-03 0.110 None 1.000 1 1 2016 2016
Entrez Id: 126014
Gene Symbol: OSCAR
OSCAR
Q8IYS5 osteoclast associated Ig-like receptor 17 0.743 0.462 3.4E-04 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1414
Gene Symbol: CRYBB1
CRYBB1
P53674 crystallin beta B1 30 0.686 0.231 7.0E-04 0.010 None 1.000 1 0 2012 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 1368 0.303 0.885 1.00 0.110 None 1.000 1 0 2002 2002
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
P14653 homeobox B1 59 0.633 0.538 8.2E-02 0.010 None 1.000 1 0 2012 2012
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
P23760 paired box 3 257 0.481 0.769 0.24 0.110 None 1.000 1 1 2017 2017
Entrez Id: 51053
Gene Symbol: GMNN
GMNN
O75496 geminin DNA replication inhibitor 153 0.554 0.808 0.11 0.100 None 1.000 1 1 2015 2015
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2
O75051 plexin A2 307 0.447 0.808 1.1E-06 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 54778
Gene Symbol: RNF111
RNF111
Q6ZNA4 ring finger protein 111 31 0.700 0.500 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.110 None 1.000 1 1 2017 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.110 None 1.000 1 0 2019 2019
Entrez Id: 55666
Gene Symbol: NPLOC4
NPLOC4
Q8TAT6 NPL4 homolog, ubiquitin recognition factor 21 0.743 0.385 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5678
Gene Symbol: PSG9
PSG9
Q00887 pregnancy specific beta-1-glycoprotein 9 8 0.890 0.192 3.9E-22 0.010 None 1.000 1 0 2017 2017
Entrez Id: 590
Gene Symbol: BCHE
BCHE
P06276 butyrylcholinesterase 392 0.447 0.923 1.1E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.110 None 1.000 1 0 2013 2013
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016