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 21 0 2005 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.140 None 1.000 7 1 1999 2012
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.160 None 1.000 6 2 2015 2020
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1 		Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.160 None 1.000 6 0 2014 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: 10522
Gene Symbol: DEAF1
DEAF1 		O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 5 3 2014 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.150 None 1.000 5 0 2007 2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.150 None 1.000 5 1 2011 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.050 None 1.000 5 0 2013 2018
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 5 9 2004 2018
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.440 moderate 1.000 5 0 2013 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 484 0.423 0.923 1.00 0.140 None 0.750 4 0 1992 2018
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: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.120 None 1.000 4 4 2012 2019
Entrez Id: 57680
Gene Symbol: CHD8
CHD8 		Q9HCK8 chromodomain helicase DNA binding protein 8 66 0.656 0.577 1.00 0.040 None 1.000 4 0 2014 2019
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 150 0.545 0.769 1.00 0.140 None 1.000 4 0 2013 2017
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.140 None 1.000 4 1 2015 2019
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 165 0.545 0.808 1.00 0.040 None 1.000 4 0 2006 2017
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1 		P02462 collagen type IV alpha 1 chain 277 0.484 0.731 1.00 0.420 strong 1.000 3 0 2007 2017
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 11 2016 2018
Entrez Id: 23334
Gene Symbol: SZT2
SZT2 		Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.420 limited 1.000 3 2 2013 2019
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		Q9H4W6 EBF transcription factor 3 124 0.595 0.731 1.00 0.120 None 1.000 3 2 2017 2017
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1 		Q9NRF2 SH2B adaptor protein 1 140 0.566 0.731 0.97 0.130 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 0.130 None 1.000 3 1 2015 2019
Entrez Id: 26523
Gene Symbol: AGO1
AGO1 		Q9UL18 argonaute RISC component 1 48 0.656 0.577 1.00 0.320 moderate 1.000 3 0 2015 2018