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: 80208
Gene Symbol: SPG11
SPG11 		Q96JI7 SPG11 vesicle trafficking associated, spatacsin 139 0.576 0.538 1.6E-39 0.200 None 1.000 26 2 2004 2019
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26 		Q68DK2 zinc finger FYVE-type containing 26 79 0.636 0.615 4.7E-23 0.180 None 1.000 8 0 2009 2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.020 None 1.000 2 0 2005 2005
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.120 None 1.000 2 0 2010 2015
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 0.120 None 1.000 2 0 2010 2013
Entrez Id: 3342
Gene Symbol: HTC2
HTC2 		hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2010 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.020 None 1.000 2 0 2012 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		Q8NFD5 AT-rich interaction domain 1B 270 0.503 0.846 1.00 0.100 None 1.000 2 1 2012 2015
Entrez Id: 4774
Gene Symbol: NFIA
NFIA 		Q12857 nuclear factor I A Nucleic acid binding 95 0.599 0.808 1.00 0.120 None 1.000 2 0 2010 2014
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		P55316 forkhead box G1 224 0.522 0.692 0.94 0.120 None 1.000 2 1 2010 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1228 0.319 0.846 1.00 0.100 None 1.000 2 1 2006 2006
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 79 0.631 0.654 1.3E-09 0.120 None 1.000 2 0 2011 2012
Entrez Id: 58478
Gene Symbol: ENOPH1
ENOPH1 		Q9UHY7 enolase-phosphatase 1 Enzyme 14 0.760 0.308 6.1E-03 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.110 None 1.000 1 0 2009 2009
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1 		P55201 bromodomain and PHD finger containing 1 51 0.686 0.385 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 31
Gene Symbol: ACACA
ACACA 		Q13085 acetyl-CoA carboxylase alpha 241 0.480 0.846 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 409 0.431 0.846 6.9E-07 0.010 None 1.000 1 0 2010 2010
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		P26367 paired box 6 340 0.450 0.769 1.00 0.110 None 1.000 1 0 2004 2004
Entrez Id: 133686
Gene Symbol: NADK2
NADK2 		Q4G0N4 NAD kinase 2, mitochondrial Kinase 42 0.691 0.346 6.5E-02 0.110 None 1.000 1 0 2016 2016
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.010 None 1.000 1 0 2010 2010
Entrez Id: 8575
Gene Symbol: PRKRA
PRKRA 		O75569 protein activator of interferon induced protein kinase EIF2AK2 Kinase 113 0.579 0.615 0.42 0.010 None 1.000 1 0 2010 2010
Entrez Id: 57176
Gene Symbol: VARS2
VARS2 		Q5ST30 valyl-tRNA synthetase 2, mitochondrial 37 0.666 0.577 5.8E-17 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2 		Q9NQ11 ATPase cation transporting 13A2 160 0.566 0.577 9.0E-09 0.110 None 1.000 1 0 2010 2010
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2 		O94830 DDHD domain containing 2 Enzyme 37 0.695 0.577 1.4E-10 0.110 None 1.000 1 0 2014 2014
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		Q00839 heterogeneous nuclear ribonucleoprotein U 116 0.575 0.654 1.00 0.010 None 1.000 1 0 2017 2017