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: 4983
Gene Symbol: OPHN1
OPHN1 		O60890 oligophrenin 1 Enzyme modulator 81 0.633 0.538 1.00 0.200 None 1.000 11 1 1999 2018
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.150 None 1.000 5 1 2010 2017
Entrez Id: 5649
Gene Symbol: RELN
RELN 		P78509 reelin 178 0.515 0.731 1.00 0.140 None 1.000 4 0 2006 2019
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.130 None 1.000 3 1 2004 2017
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.030 None 1.000 3 0 1991 2017
Entrez Id: 7846
Gene Symbol: TUBA1A
TUBA1A 		Q71U36 tubulin alpha 1a Cellular structure 82 0.597 0.769 0.97 0.030 None 1.000 3 0 2008 2014
Entrez Id: 84942
Gene Symbol: WDR73
WDR73 		Q6P4I2 WD repeat domain 73 98 0.610 0.500 2.8E-09 0.020 None 1.000 2 0 2015 2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.120 None 1.000 2 0 2007 2008
Entrez Id: 7443
Gene Symbol: VRK1
VRK1 		Q99986 VRK serine/threonine kinase 1 Kinase 79 0.621 0.615 2.1E-03 0.120 None 1.000 2 0 2011 2020
Entrez Id: 23057
Gene Symbol: NMNAT2
NMNAT2 		Q9BZQ4 nicotinamide nucleotide adenylyltransferase 2 Enzyme 46 0.670 0.500 0.99 0.300 None 1.000 2 0 2012 2019
Entrez Id: 57038
Gene Symbol: RARS2
RARS2 		Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.120 None 0.500 2 0 2016 2016
Entrez Id: 51010
Gene Symbol: EXOSC3
EXOSC3 		Q9NQT5 exosome component 3 Enzyme 84 0.610 0.692 2.4E-04 0.020 None 1.000 2 0 2013 2019
Entrez Id: 5048
Gene Symbol: PAFAH1B1
PAFAH1B1 		P43034 platelet activating factor acetylhydrolase 1b regulatory subunit 1 219 0.504 0.769 1.00 0.120 None 1.000 2 0 2006 2007
Entrez Id: 57187
Gene Symbol: THOC2
THOC2 		Q8NI27 THO complex 2 Transcription factor 59 0.650 0.538 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 2020
Gene Symbol: EN2
EN2 		P19622 engrailed homeobox 2 Transcription factor 41 0.674 0.462 0.63 0.010 None 1.000 1 0 2002 2002
Entrez Id: 5626
Gene Symbol: PROP1
PROP1 		O75360 PROP paired-like homeobox 1 117 0.576 0.615 8.8E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1 		P04629 neurotrophic receptor tyrosine kinase 1 Kinase 443 0.422 0.808 2.0E-06 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8022
Gene Symbol: LHX3
LHX3 		Q9UBR4 LIM homeobox 3 Nucleic acid binding 69 0.644 0.462 1.1E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5747
Gene Symbol: PTK2
PTK2 		Q05397 protein tyrosine kinase 2 Kinase 205 0.497 0.808 1.00 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1736
Gene Symbol: DKC1
DKC1 		O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 168 0.547 0.769 1.00 0.110 None 1.000 1 0 1999 1999
Entrez Id: 7471
Gene Symbol: WNT1
WNT1 		P04628 Wnt family member 1 Signaling 216 0.495 0.769 0.33 0.110 None 1.000 1 0 2002 2002
Entrez Id: 23090
Gene Symbol: ZNF423
ZNF423 		Q2M1K9 zinc finger protein 423 97 0.592 0.808 1.00 0.010 None 1.000 1 0 2016 2016
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.010 None 1.000 1 0 2019 2019
Entrez Id: 283989
Gene Symbol: TSEN54
TSEN54 		Q7Z6J9 tRNA splicing endonuclease subunit 54 72 0.659 0.500 1.8E-07 0.110 None 1.000 1 1 2020 2020
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.010 None 1.000 1 0 2003 2003