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: 5339
Gene Symbol: PLEC
PLEC 		Q15149 plectin Cellular structure 218 0.523 0.808 8.3E-12 0.100 None 0 0
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 285 0.477 0.885 1.00 0.100 None 0 0
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1511 0.292 0.923 1.00 0.100 None 0 0
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		Q8N6M0 OTU deubiquitinase 6B Enzyme 76 0.659 0.538 1.3E-07 0.100 None 0 1
Entrez Id: 51574
Gene Symbol: LARP7
LARP7 		Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 57 0.674 0.615 9.3E-08 0.100 None 0 0
Entrez Id: 51322
Gene Symbol: WAC
WAC 		Q9BTA9 WW domain containing adaptor with coiled-coil 68 0.686 0.615 1.00 0.100 None 0 0
Entrez Id: 54517
Gene Symbol: PUS7
PUS7 		Q96PZ0 pseudouridine synthase 7 26 0.769 0.308 1.3E-09 0.100 None 0 0
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		Q9NVI7 ATPase family AAA domain containing 3A Enzyme 81 0.628 0.692 4.1E-09 0.100 None 0 0
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.100 None 0 0
Entrez Id: 55904
Gene Symbol: KMT2E
KMT2E 		Q8IZD2 lysine methyltransferase 2E 65 0.682 0.423 1.00 0.100 None 0 0
Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8 		Q9BY41 histone deacetylase 8 Epigenetic regulator 236 0.511 0.885 0.98 0.100 None 0 0
Entrez Id: 55733
Gene Symbol: HHAT
HHAT 		Q5VTY9 hedgehog acyltransferase Enzyme 75 0.608 0.577 3.2E-08 0.100 None 0 0
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 95 0.590 0.654 8.1E-02 0.100 None 0 0
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP 		Q9NPF4 O-sialoglycoprotein endopeptidase Enzyme 79 0.626 0.615 7.1E-08 0.100 None 0 0
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D 		Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 33 0.722 0.462 1.00 0.100 None 0 0
Entrez Id: 51119
Gene Symbol: SBDS
SBDS 		Q9Y3A5 SBDS ribosome maturation factor Enzyme 105 0.601 0.692 6.2E-05 0.100 None 0 2
Entrez Id: 6905
Gene Symbol: TBCE
TBCE 		Q15813 tubulin folding cofactor E Chaperone 146 0.575 0.692 1.7E-08 0.100 None 0 0
Entrez Id: 9935
Gene Symbol: MAFB
MAFB 		Q9Y5Q3 MAF bZIP transcription factor B Transcription factor 135 0.565 0.731 0.90 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G 		O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.100 None 0 0
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 145 0.584 0.577 1.00 0.100 None 0 1
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3 		Q9BYB0 SH3 and multiple ankyrin repeat domains 3 169 0.550 0.731 1.00 0.100 None 0 0
Entrez Id: 8514
Gene Symbol: KCNAB2
KCNAB2 		Q13303 potassium voltage-gated channel subfamily A regulatory beta subunit 2 Ion channel 111 0.593 0.692 0.80 0.100 None 0 0
Entrez Id: 84992
Gene Symbol: PIGY
PIGY 		Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 99 0.628 0.577 9.7E-02 0.100 None 0 0