Source: ALL
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 Epigenetic regulator 664 0.414 0.846 0.89 0.400 None 0.993 141 0 2000 2020
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.400 None 0.962 26 0 2004 2020
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.100 None 1.000 25 0 2005 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.100 None 0.941 17 0 2011 2019
Entrez Id: 26047
Gene Symbol: CNTNAP2
CNTNAP2 		Q9UHC6 contactin associated protein 2 203 0.530 0.846 2.9E-09 0.100 None 0.909 11 0 2010 2019
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.370 None 1.000 9 0 2016 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1 		Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.080 None 1.000 8 0 2005 2019
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.080 None 1.000 8 0 2010 2019
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.360 None 1.000 8 0 2017 2019
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.070 None 1.000 7 0 2013 2018
Entrez Id: 414
Gene Symbol: ARSD
ARSD 		P51689 arylsulfatase D Enzyme 163 0.535 0.808 1.6E-03 0.070 None 1.000 7 0 2011 2020
Entrez Id: 6594
Gene Symbol: SMARCA1
SMARCA1 		P28370 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 Enzyme 183 0.504 0.808 1.00 0.070 None 1.000 7 0 2012 2019
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.360 None 1.000 7 0 2017 2018
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.060 None 1.000 6 0 2016 2019
Entrez Id: 627
Gene Symbol: BDNF
BDNF 		P23560 brain derived neurotrophic factor Signaling 992 0.345 0.923 0.66 0.060 None 1.000 6 2 2007 2020
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.350 None 1.000 6 0 2015 2017
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		Q96NR3 patched domain containing 1 Receptor 62 0.678 0.385 0.98 0.060 None 1.000 6 0 2011 2020
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.350 None 1.000 6 1 2014 2019
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		P15884 transcription factor 4 Transcription factor 378 0.464 0.846 1.00 0.350 None 1.000 6 0 2011 2019
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.340 None 1.000 6 0 2012 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		P60484 phosphatase and tensin homolog Enzyme 1349 0.305 0.923 0.26 0.350 None 1.000 6 1 2009 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.060 None 1.000 6 0 2017 2019
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 371 0.460 0.808 1.00 0.050 None 0.800 5 0 2015 2019
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.330 None 1.000 5 0 2016 2019
Entrez Id: 79594
Gene Symbol: MUL1
MUL1 		Q969V5 mitochondrial E3 ubiquitin protein ligase 1 241 0.473 0.808 1.9E-06 0.050 None 1.000 5 0 2017 2019