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 0.100 None 1.000 19 0 2005 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.060 None 1.000 6 0 2011 2019
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.050 None 1.000 5 0 2011 2018
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.050 None 1.000 5 0 2014 2018
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.040 None 1.000 4 0 2016 2019
Entrez Id: 1801
Gene Symbol: DPH1
DPH1 		Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.140 None 1.000 4 1 2005 2020
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.040 None 1.000 4 0 2008 2012
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 150 0.545 0.769 1.00 0.040 None 1.000 4 0 2013 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.320 strong 1.000 3 0 2007 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.030 None 1.000 3 0 2007 2013
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.030 None 1.000 3 0 1992 2018
Entrez Id: 22827
Gene Symbol: PUF60
PUF60 		Q9UHX1 poly(U) binding splicing factor 60 188 0.536 0.769 1.00 0.130 None 1.000 3 2 2016 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.320 limited 1.000 3 0 2013 2019
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		Q9NRF2 SH2B adaptor protein 1 140 0.566 0.731 0.97 0.030 None 1.000 3 0 2010 2017
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		Q8WXX7 activator of transcription and developmental regulator AUTS2 149 0.569 0.846 1.00 0.030 None 1.000 3 0 2015 2019
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.030 None 1.000 3 0 2016 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.030 None 1.000 3 0 1997 2014
Entrez Id: 51594
Gene Symbol: NBAS
NBAS 		A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.420 strong 1.000 3 2 2015 2017
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		Q9HCK8 chromodomain helicase DNA binding protein 8 66 0.656 0.577 1.00 0.030 None 1.000 3 0 2014 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.110 None 1.000 3 1 2001 2018
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.130 None 1.000 3 2 2015 2019
Entrez Id: 8242
Gene Symbol: KDM5C
KDM5C 		P41229 lysine demethylase 5C 119 0.581 0.538 1.00 0.310 None 1.000 3 0 2008 2016
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1 		EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		P42771 Q8N726 cyclin dependent kinase inhibitor 2A 1314 0.300 0.885 0.39 0.020 None 1.000 2 0 1980 2017
Entrez Id: 10456
Gene Symbol: HAX1
HAX1 		O00165 HCLS1 associated protein X-1 59 0.631 0.577 8.5E-08 0.020 None 1.000 2 0 2007 2008