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: 5413
Gene Symbol: SEPTIN5
SEPTIN5 		Q99719 septin 5 Enzyme modulator 29 0.691 0.462 0.93 0.010 None 1.000 1 0 2011 2011
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1 		Q69YN2 CWF19 like cell cycle control factor 1 51 0.691 0.346 1.4E-15 0.010 None 1.000 1 0 2014 2014
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		Q08209 protein phosphatase 3 catalytic subunit alpha 149 0.568 0.769 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 55343
Gene Symbol: SLC35C1
SLC35C1 		Q96A29 solute carrier family 35 member C1 Transporter 35 0.705 0.577 2.4E-02 0.010 None 1.000 1 0 2014 2014
Entrez Id: 55655
Gene Symbol: NLRP2
NLRP2 		Q9NX02 NLR family pyrin domain containing 2 155 0.515 0.731 1.4E-38 0.010 None 1.000 1 0 2006 2006
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		Q6VY07 phosphofurin acidic cluster sorting protein 1 109 0.603 0.615 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.010 None 1.000 1 0 2018 2018
Entrez Id: 55823
Gene Symbol: VPS11
VPS11 		Q9H270 VPS11 core subunit of CORVET and HOPS complexes Transporter 79 0.633 0.654 1.9E-05 0.010 None 1.000 1 0 2015 2015
Entrez Id: 55870
Gene Symbol: ASH1L
ASH1L 		Q9NR48 ASH1 like histone lysine methyltransferase 63 0.623 0.577 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 65 0.682 0.423 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2 		Q9NQZ6 zinc finger C4H2-type containing 151 0.561 0.731 0.91 0.010 None 1.000 1 0 2019 2019
Entrez Id: 56006
Gene Symbol: SMG9
SMG9 		Q9H0W8 SMG9 nonsense mediated mRNA decay factor 48 0.729 0.346 3.5E-13 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2 		P36507 mitogen-activated protein kinase kinase 2 Kinase 177 0.534 0.731 0.97 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.010 None 1.000 1 1 2012 2012
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5515
Gene Symbol: PPP2CA
PPP2CA 		P67775 protein phosphatase 2 catalytic subunit alpha 87 0.608 0.769 0.99 0.010 None 1.000 1 0 2019 2019
Entrez Id: 54187
Gene Symbol: NANS
NANS 		Q9NR45 N-acetylneuraminate synthase Enzyme 153 0.545 0.692 0.010 None 1.000 1 0 2016 2016
Entrez Id: 5430
Gene Symbol: POLR2A
POLR2A 		P24928 RNA polymerase II subunit A Enzyme 47 0.650 0.423 1.00 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 5443
Gene Symbol: POMC
POMC 		P01189 proopiomelanocortin 873 0.356 0.846 1.2E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 5454
Gene Symbol: POU3F2
POU3F2 		P20265 POU class 3 homeobox 2 40 0.700 0.423 0.92 0.010 None 1.000 1 0 2016 2016
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		P22309 UDP glucuronosyltransferase family 1 member A1 302 0.464 0.769 3.3E-06 0.010 None 1.000 1 0 2017 2017
Entrez Id: 54715
Gene Symbol: RBFOX1
RBFOX1 		Q9NWB1 RNA binding fox-1 homolog 1 Nucleic acid binding 103 0.584 0.692 0.95 0.010 None 1.000 1 0 2014 2014
Entrez Id: 54776
Gene Symbol: PPP1R12C
PPP1R12C 		Q9BZL4 protein phosphatase 1 regulatory subunit 12C 53 0.626 0.654 8.7E-02 0.010 None 1.000 1 0 2018 2018
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.010 None 1.000 1 0 2013 2013