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: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.100 None 1.000 15 0 2004 2018
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 438 0.428 0.808 1.00 0.050 None 1.000 5 0 2001 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.050 None 1.000 5 0 2010 2019
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.040 None 1.000 4 0 1993 1998
Entrez Id: 2294
Gene Symbol: FOXF1
FOXF1 		Q12946 forkhead box F1 135 0.540 0.692 0.96 0.040 None 1.000 4 0 2013 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.040 None 1.000 4 0 2009 2020
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		Q99697 paired like homeodomain 2 248 0.489 0.808 0.98 0.040 None 1.000 4 0 2000 2018
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.030 None 1.000 3 0 2011 2014
Entrez Id: 3852
Gene Symbol: KRT5
KRT5 		P13647 keratin 5 203 0.512 0.731 0.64 0.030 None 1.000 3 0 2018 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.320 None 1.000 3 0 2006 2015
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		O15409 forkhead box P2 165 0.545 0.808 1.00 0.030 None 1.000 3 0 2003 2017
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4 		Q07065 cytoskeleton associated protein 4 332 0.436 0.731 0.51 0.020 None 1.000 2 0 2013 2019
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		Q8IXJ9 ASXL transcriptional regulator 1 296 0.482 0.808 1.3E-14 0.020 None 1.000 2 0 2012 2019
Entrez Id: 182
Gene Symbol: JAG1
JAG1 		P78504 jagged canonical Notch ligand 1 420 0.429 0.808 1.00 0.020 None 1.000 2 0 1998 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.020 None 1.000 2 0 2011 2013
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		Q71F56 mediator complex subunit 13L 94 0.617 0.538 1.00 0.020 None 1.000 2 0 2017 2019
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		P15328 folate receptor alpha 174 0.522 0.885 0.13 0.020 None 1.000 2 0 2016 2017
Entrez Id: 2481
Gene Symbol: FRAXE
FRAXE 		fragile site, folic acid type, rare, fra(X)(q28) E 50 0.636 0.462 0.020 None 1.000 2 0 1996 2001
Entrez Id: 2735
Gene Symbol: GLI1
GLI1 		P08151 GLI family zinc finger 1 369 0.431 0.846 7.7E-14 0.020 None 1.000 2 0 1997 1997
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2010 2012
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		P01344 insulin like growth factor 2 604 0.390 0.885 4.4E-02 0.020 None 1.000 2 0 1997 2017
Entrez Id: 353174
Gene Symbol: ZACN
ZACN 		Q401N2 zinc activated ion channel 42 0.659 0.538 4.3E-22 0.020 None 1.000 2 0 2009 2014
Entrez Id: 4281
Gene Symbol: MID1
MID1 		O15344 midline 1 77 0.621 0.654 0.98 0.020 None 1.000 2 0 1999 2002
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3 		Q9UM47 notch receptor 3 418 0.435 0.808 0.41 0.020 None 1.000 2 0 1998 2004
Entrez Id: 5325
Gene Symbol: PLAGL1
PLAGL1 		Q9UM63 PLAG1 like zinc finger 1 130 0.566 0.769 0.98 0.020 None 1.000 2 0 2009 2014