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: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 1.000 10 0 2010 2020
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: 8260
Gene Symbol: NAA10
NAA10 		P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.050 None 1.000 5 0 2015 2019
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE 		P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 176 0.530 0.692 0.98 0.050 None 1.000 5 0 2008 2013
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.040 None 1.000 4 0 2002 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: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.040 None 1.000 4 0 2010 2019
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: 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: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.330 strong 1.000 4 0 2000 2019
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 247 0.505 0.769 1.00 0.040 None 1.000 4 0 2009 2017
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.040 None 1.000 4 0 2013 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: 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: 7291
Gene Symbol: TWIST1
TWIST1 		Q15672 twist family bHLH transcription factor 1 Transcription factor 559 0.397 0.846 0.34 0.030 None 1.000 3 0 1998 2013
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: 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: 1859
Gene Symbol: DYRK1A
DYRK1A 		Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.030 None 1.000 3 0 2002 2016
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: 4208
Gene Symbol: MEF2C
MEF2C 		Q06413 myocyte enhancer factor 2C Transcription factor 206 0.517 0.769 1.7E-02 0.030 None 1.000 3 0 2010 2015
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 224 0.507 0.769 1.00 0.030 None 1.000 3 0 2005 2019
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