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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 nucleic acid binding; transferase 403 0.463 0.862 0.78 0.200 1.000 10 1 2003 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 fragile X mental retardation 1 nucleic acid binding 288 0.492 0.690 0.69 0.170 1.000 7 0 2010 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 kinase; transferase 170 0.551 0.448 1.00 0.170 1.000 7 0 2008 2013
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
Q14654 potassium voltage-gated channel subfamily J member 11 179 0.542 0.552 9.8E-03 0.160 1.000 6 5 2005 2012
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase lyase 90 0.685 0.379 1.0E-10 0.150 1.000 5 0 1998 2014
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 175 0.516 0.655 1.00 0.150 1.000 5 0 2009 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog hydrolase; phosphatase 915 0.334 0.828 0.82 0.150 0.800 5 0 2006 2015
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon chaperone 143 0.534 0.655 0.99 0.150 1.000 5 0 2009 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
O43526 potassium voltage-gated channel subfamily Q member 2 127 0.557 0.483 1.00 0.130 1.000 3 0 2008 2014
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
P26367 paired box 6 250 0.479 0.655 1.00 0.130 1.000 3 0 1998 2014
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
O15305 phosphomannomutase 2 isomerase 139 0.557 0.621 1.6E-17 0.130 1.000 3 0 1998 1999
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 358 0.441 0.690 0.99 0.130 1.000 3 0 2000 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
P15884 transcription factor 4 nucleic acid binding; transcription factor 283 0.494 0.655 1.00 0.130 1.000 3 0 2010 2013
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
Q9Y484 WD repeat domain 45 52 0.685 0.207 0.99 0.130 1.000 3 0 2015 2016
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
Q9NRF2 SH2B adaptor protein 1 94 0.627 0.586 0.95 0.130 0.667 3 1 2011 2017
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
Q96Q11 tRNA nucleotidyl transferase 1 30 0.727 0.207 1.4E-04 0.130 1.000 3 0 2015 2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2, DNA repair associated nucleic acid binding 358 0.426 0.793 5.5E-24 0.120 1.000 2 0 2011 2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
P35222 catenin beta 1 412 0.417 0.759 1.00 0.120 1.000 2 0 2015 2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 558 0.417 0.759 1.8E-05 0.120 1.000 2 1 2006 2009
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
P01112 HRas proto-oncogene, GTPase enzyme modulator 545 0.404 0.828 8.7E-02 0.120 1.000 2 0 2006 2018
Entrez Id: 3981
Gene Symbol: LIG4
LIG4
P49917 DNA ligase 4 207 0.524 0.724 5.9E-06 0.120 1.000 2 1 2002 2006
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 structural protein 128 0.577 0.517 0.93 0.120 1.000 2 0 2002 2012
Entrez Id: 6492
Gene Symbol: SIM1
SIM1
P81133 SIM bHLH transcription factor 1 nucleic acid binding; transcription factor 61 0.701 0.345 1.00 0.120 1.000 2 0 2013 2015
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
P41225 SRY-box 3 transcription factor 93 0.559 0.655 0.47 0.120 0.500 2 0 2013 2015
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 61 0.648 0.483 3.0E-05 0.120 1.000 2 0 2014 2015