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: 2697
Gene Symbol: GJA1
GJA1
P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.110 None 1.000 1 1 2012 2012
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 1.000 1 1 2016 2016
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 1 2 2017 2017
Entrez Id: 9993
Gene Symbol: DGCR2
DGCR2
P98153 DiGeorge syndrome critical region gene 2 77 0.623 0.731 5.2E-06 0.100 None 0 0
Entrez Id: 64327
Gene Symbol: LMBR1
LMBR1
Q8WVP7 limb development membrane protein 1 Receptor 98 0.619 0.308 1.3E-08 0.100 None 0 0
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
P56693 SRY-box transcription factor 10 334 0.461 0.808 0.99 0.100 None 0 0
Entrez Id: 6664
Gene Symbol: SOX11
SOX11
P35716 SRY-box transcription factor 11 Transcription factor 246 0.494 0.808 0.86 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 613
Gene Symbol: BCR
BCR
P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 392 0.431 0.885 0.99 0.100 None 0 0
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
Q9H161 ALX homeobox 4 129 0.560 0.692 0.36 0.100 None 0 0
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 54101
Gene Symbol: RIPK4
RIPK4
P57078 receptor interacting serine/threonine kinase 4 Kinase 119 0.565 0.654 4.0E-03 0.100 None 0 0
Entrez Id: 54487
Gene Symbol: DGCR8
DGCR8
Q8WYQ5 DGCR8 microprocessor complex subunit 101 0.579 0.731 1.00 0.100 None 0 0
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 173 0.559 0.846 2.6E-04 0.100 None 0 0
Entrez Id: 55012
Gene Symbol: PPP2R3C
PPP2R3C
Q969Q6 protein phosphatase 2 regulatory subunit B''gamma Enzyme 49 0.700 0.538 6.8E-09 0.100 None 0 0
Entrez Id: 55835
Gene Symbol: CENPJ
CENPJ
Q9HC77 centromere protein J Enzyme 150 0.546 0.846 2.1E-27 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1
P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
P49848 TATA-box binding protein associated factor 6 Transcription factor 29 0.769 0.308 8.3E-09 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1
O43435 T-box transcription factor 1 Transcription factor 417 0.433 0.808 0.84 0.100 None 0 0
Entrez Id: 9759
Gene Symbol: HDAC4
HDAC4
P56524 histone deacetylase 4 Epigenetic regulator 256 0.484 0.885 1.00 0.100 None 0 0
Entrez Id: 9568
Gene Symbol: GABBR2
GABBR2
O75899 gamma-aminobutyric acid type B receptor subunit 2 G-protein coupled receptor 81 0.650 0.538 1.00 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0