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: 2186
Gene Symbol: BPTF
BPTF
Q12830 bromodomain PHD finger transcription factor 171 0.560 0.769 1.00 0.100 None 1.000 19 1 1995 2017
Entrez Id: 2033
Gene Symbol: EP300
EP300
Q09472 E1A binding protein p300 345 0.459 0.846 1.00 0.100 None 1.000 19 1 1963 2016
Entrez Id: 64919
Gene Symbol: BCL11B
BCL11B
Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 123 0.568 0.731 0.99 0.100 None 1.000 19 1 2003 2016
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Q92793 CREB binding protein 438 0.428 0.808 1.00 0.100 None 1.000 18 3 1963 2017
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
Q6UB99 ankyrin repeat domain 11 177 0.556 0.808 1.00 0.100 None 1.000 18 3 2004 2017
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.100 None 1.000 18 2 1990 2016
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR
O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 31 0.722 0.308 1.00 0.100 None 1.000 18 1 1998 2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.100 None 1.000 18 2 1988 2015
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.100 None 1.000 18 1 2004 2017
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 1.000 17 1 1999 2013
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A
O15550 lysine demethylase 6A Epigenetic regulator 238 0.498 0.769 1.00 0.100 None 1.000 17 1 1998 2016
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 1.000 17 1 1975 2012
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 1.000 16 1 1995 2017
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
Q71F56 mediator complex subunit 13L 94 0.617 0.538 1.00 0.100 None 1.000 16 3 1971 2018
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7
Q9UBM7 7-dehydrocholesterol reductase Enzyme 266 0.500 0.846 3.9E-13 0.100 None 1.000 16 2 1994 2013
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.100 None 1.000 16 2 1979 2018
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 1.000 16 3 1989 2017
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 1.000 15 1 2011 2018
Entrez Id: 6567
Gene Symbol: SLC16A2
SLC16A2
P36021 solute carrier family 16 member 2 Transporter 108 0.592 0.577 0.99 0.100 None 1.000 15 1 1990 2016
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
Q15029 elongation factor Tu GTP binding domain containing 2 Enzyme 76 0.647 0.462 1.00 0.100 None 1.000 15 2 2006 2017
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.100 None 1.000 15 1 1989 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 1.000 15 2 2000 2015
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 470 0.418 0.885 0.85 0.100 None 1.000 15 2 2006 2016
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
O96017 checkpoint kinase 2 Kinase 297 0.460 0.808 1.2E-24 0.100 None 1.000 14 1 2001 2015
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 112 0.599 0.577 0.100 None 1.000 14 2 1991 2014