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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.380 None 1.000 9 0 2003 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.090 None 1.000 9 0 1995 2017
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: 2245
Gene Symbol: FGD1
FGD1 		P98174 FYVE, RhoGEF and PH domain containing 1 Enzyme modulator 131 0.573 0.731 1.00 0.050 None 1.000 5 0 1999 2014
Entrez Id: 8626
Gene Symbol: TP63
TP63 		Q9H3D4 tumor protein p63 Transcription factor 816 0.362 0.769 1.00 0.050 None 1.000 5 0 2002 2019
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: 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: 3845
Gene Symbol: KRAS
KRAS 		P01116 KRAS proto-oncogene, GTPase Enzyme modulator 1213 0.320 0.923 7.9E-04 0.040 None 1.000 4 0 2007 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.410 None 1.000 4 1 2002 2009
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: 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: 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: 25836
Gene Symbol: NIPBL
NIPBL 		Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 225 0.521 0.808 1.00 0.040 None 1.000 4 0 2012 2017
Entrez Id: 51305
Gene Symbol: KCNK9
KCNK9 		Q9NPC2 potassium two pore domain channel subfamily K member 9 Ion channel 99 0.615 0.577 0.96 0.030 None 0.667 3 1 2014 2020
Entrez Id: 5879
Gene Symbol: RAC1
RAC1 		P63000 Rac family small GTPase 1 Enzyme modulator 415 0.429 0.962 0.76 0.030 None 1.000 3 0 2017 2019
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: 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: 668
Gene Symbol: FOXL2
FOXL2 		P58012 forkhead box L2 Transcription factor 137 0.542 0.692 0.88 0.030 None 1.000 3 0 2001 2010
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: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.300 None 1.000 3 0 1998 2001
Entrez Id: 998
Gene Symbol: CDC42
CDC42 		P60953 cell division cycle 42 Enzyme modulator 327 0.458 0.846 0.79 0.030 None 1.000 3 0 2018 2019
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.030 None 1.000 3 0 2009 2019
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: 60
Gene Symbol: ACTB
ACTB 		P60709 actin beta Cellular structure 1110 0.325 0.923 0.99 0.030 None 1.000 3 0 2017 2019