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: 57526
Gene Symbol: PCDH19
PCDH19
Q8TAB3 protocadherin 19 93 0.599 0.462 1.00 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: 6855
Gene Symbol: SYP
SYP
P08247 synaptophysin Transporter 243 0.481 0.808 0.92 0.100 None 0 0
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
Q9BTW9 tubulin folding cofactor D Cellular structure 129 0.599 0.615 1.0E-07 0.100 None 0 0
Entrez Id: 83480
Gene Symbol: PUS3
PUS3
Q9BZE2 pseudouridine synthase 3 Enzyme 15 0.780 0.346 1.4E-08 0.100 None 0 0
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
Q8TDP1 ribonuclease H2 subunit C 120 0.590 0.731 5.5E-03 0.100 None 0 0
Entrez Id: 84679
Gene Symbol: SLC9A7
SLC9A7
Q96T83 solute carrier family 9 member A7 Transporter 52 0.695 0.577 0.99 0.100 None 0 0
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
O75665 OFD1 centriole and centriolar satellite protein 261 0.510 0.808 0.96 0.100 None 0 0
Entrez Id: 8867
Gene Symbol: SYNJ1
SYNJ1
O43426 synaptojanin 1 Enzyme 128 0.576 0.577 0.43 0.100 None 0 0
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
Q9UNP4 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 78 0.650 0.654 1.3E-03 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.100 None 0 0
Entrez Id: 9215
Gene Symbol: LARGE1
LARGE1
O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 182 0.526 0.654 0.99 0.100 None 0 0
Entrez Id: 9326
Gene Symbol: ZNHIT3
ZNHIT3
Q15649 zinc finger HIT-type containing 3 72 0.666 0.462 5.5E-07 0.100 None 0 0
Entrez Id: 9459
Gene Symbol: ARHGEF6
ARHGEF6
Q15052 Rac/Cdc42 guanine nucleotide exchange factor 6 52 0.678 0.462 1.00 0.100 None 0 0
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4
Q14CM0 FERM and PDZ domain containing 4 68 0.674 0.423 1.00 0.100 None 0 0
Entrez Id: 8239
Gene Symbol: USP9X
USP9X
Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.100 None 0 0
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
Q9C0F0 ASXL transcriptional regulator 3 149 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 98 0.631 0.577 1.00 0.100 None 0 0
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
O60566 BUB1 mitotic checkpoint serine/threonine kinase B Kinase 231 0.502 0.808 7.0E-10 0.100 None 0 0
Entrez Id: 7102
Gene Symbol: TSPAN7
TSPAN7
P41732 tetraspanin 7 87 0.604 0.731 0.75 0.100 None 0 0
Entrez Id: 729920
Gene Symbol: CRPPA
CRPPA
A4D126 CDP-L-ribitol pyrophosphorylase A 134 0.566 0.654 2.5E-04 0.100 None 0 0
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
P17480 upstream binding transcription factor 44 0.705 0.462 1.00 0.100 None 0 0
Entrez Id: 7407
Gene Symbol: VARS1
VARS1
P26640 valyl-tRNA synthetase 1 36 0.711 0.500 1.8E-08 0.100 None 0 0
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711
Q9Y462 zinc finger protein 711 52 0.691 0.423 0.98 0.100 None 0 0
Entrez Id: 7592
Gene Symbol: ZNF41
ZNF41
P51814 zinc finger protein 41 45 0.711 0.385 3.5E-02 0.100 None 0 0