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: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.100 None 1.000 21 0 2005 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.200 None 1.000 12 6 2002 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.200 None 1.000 12 2 2008 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.200 None 1.000 10 0 2010 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
P51587 BRCA2 DNA repair associated Nucleic acid binding 656 0.379 0.846 2.4E-25 0.120 None 1.000 9 3 2005 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.180 None 1.000 8 19 2006 2019
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
Q14654 potassium inwardly rectifying channel subfamily J member 11 Ion channel 218 0.529 0.615 1.1E-02 0.170 None 1.000 7 7 2005 2016
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1
P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.140 None 1.000 7 1 1999 2012
Entrez Id: 11152
Gene Symbol: WDR45
WDR45
Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.160 None 1.000 6 2 2015 2020
Entrez Id: 51095
Gene Symbol: TRNT1
TRNT1
Q96Q11 tRNA nucleotidyl transferase 1 40 0.700 0.192 1.6E-04 0.160 None 1.000 6 0 2014 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.150 None 1.000 6 4 2010 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.060 None 1.000 6 0 2011 2019
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
O75398 DEAF1 transcription factor 156 0.575 0.615 3.4E-04 0.100 None 1.000 5 3 2014 2017
Entrez Id: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.150 None 1.000 5 0 2007 2014
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 212 0.533 0.769 1.00 0.140 None 1.000 5 10 2002 2016
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1
P55316 forkhead box G1 224 0.522 0.692 0.94 0.150 None 1.000 5 1 2011 2018
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.050 None 1.000 5 0 2013 2018
Entrez Id: 3745
Gene Symbol: KCNB1
KCNB1
Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 84 0.650 0.462 1.00 0.130 None 1.000 5 2 2015 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.110 None 1.000 5 9 2004 2018
Entrez Id: 7531
Gene Symbol: YWHAE
YWHAE
P62258 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon Chaperone 176 0.530 0.692 0.98 0.150 None 1.000 5 0 2008 2013
Entrez Id: 8260
Gene Symbol: NAA10
NAA10
P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 199 0.535 0.692 0.76 0.150 None 1.000 5 0 2015 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.140 None 0.750 4 0 1992 2018
Entrez Id: 1801
Gene Symbol: DPH1
DPH1
Q9BZG8 diphthamide biosynthesis 1 51 0.653 0.538 8.0E-17 0.140 None 1.000 4 1 2005 2020
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5
Q86YT5 solute carrier family 13 member 5 Transporter 106 0.608 0.577 5.1E-04 0.140 None 1.000 4 1 2016 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD
P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.040 None 1.000 4 0 2013 2019