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: 23327
Gene Symbol: NEDD4L
NEDD4L 		Q96PU5 NEDD4 like E3 ubiquitin protein ligase Enzyme 108 0.573 0.731 1.00 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.040 None 0.750 4 1 2007 2014
Entrez Id: 55777
Gene Symbol: MBD5
MBD5 		Q9P267 methyl-CpG binding domain protein 5 120 0.581 0.808 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6 		Q92581 solute carrier family 9 member A6 Transporter 210 0.516 0.846 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 25977
Gene Symbol: NECAP1
NECAP1 		Q8NC96 NECAP endocytosis associated 1 55 0.691 0.346 0.13 0.110 None 1.000 1 0 2014 2014
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7 		Q96N67 dedicator of cytokinesis 7 Enzyme modulator 51 0.682 0.423 6.4E-06 0.110 None 1.000 1 0 2014 2014
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.430 None 1.000 4 0 2013 2015
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.310 strong 1.000 3 0 2006 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.020 None 1.000 2 0 2011 2015
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5 		Q9H2X9 solute carrier family 12 member 5 Transporter 135 0.570 0.654 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 79587
Gene Symbol: CARS2
CARS2 		Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 49 0.700 0.423 9.6E-08 0.110 None 1.000 1 0 2015 2015
Entrez Id: 2058
Gene Symbol: EPRS1
EPRS1 		P07814 glutamyl-prolyl-tRNA synthetase 1 Enzyme 65 0.644 0.538 1.0E-09 0.010 None 1.000 1 0 2015 2015
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		Q93008 ubiquitin specific peptidase 9 X-linked 255 0.502 0.846 1.00 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5859
Gene Symbol: QARS1
QARS1 		P47897 glutaminyl-tRNA synthetase 1 Enzyme 41 0.716 0.231 2.7E-13 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 72 0.610 0.308 2.8E-05 0.140 None 1.000 4 0 2015 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.330 strong 1.000 4 0 2007 2016
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		Q9Y484 WD repeat domain 45 72 0.647 0.423 0.99 0.030 None 1.000 3 0 2016 2016
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		Q9NQ66 phospholipase C beta 1 Enzyme 107 0.595 0.654 0.98 0.130 None 1.000 3 0 2010 2016
Entrez Id: 10243
Gene Symbol: GPHN
GPHN 		Q9NQX3 gephyrin 104 0.608 0.538 1.00 0.310 strong 1.000 2 0 2015 2016
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 249 0.510 0.692 1.00 0.410 strong 1.000 2 0 2013 2016
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		P30531 solute carrier family 6 member 1 Transporter 106 0.592 0.538 1.00 0.110 None 1.000 1 0 2016 2016
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2 		Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 555 0.393 0.923 8.0E-03 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.010 None 1.000 1 0 2016 2016
Entrez Id: 64801
Gene Symbol: ARV1
ARV1 		Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 57 0.691 0.423 3.6E-06 0.110 None 1.000 1 0 2016 2016
Entrez Id: 8120
Gene Symbol: AP3B2
AP3B2 		Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 60 0.691 0.346 0.77 0.110 None 1.000 1 2 2016 2016