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: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 0 0
Entrez Id: 1822
Gene Symbol: ATN1
ATN1 		P54259 atrophin 1 499 0.409 0.885 1.00 0.100 None 0 0
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		P21579 synaptotagmin 1 Transporter 460 0.412 0.846 0.60 0.100 None 0 0
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 0
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2 		P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.100 None 0 0
Entrez Id: 2778
Gene Symbol: GNAS
GNAS 		O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 536 0.420 0.885 0.68 0.100 None 0 0
Entrez Id: 3329
Gene Symbol: HSPD1
HSPD1 		P10809 heat shock protein family D (Hsp60) member 1 398 0.432 0.808 0.99 0.100 None 0 0
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2 		Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.180 None 1.000 8 0 2012 2018
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.120 None 1.000 2 0 2012 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 23636
Gene Symbol: NUP62
NUP62 		P37198 nucleoporin 62 Transporter 273 0.470 0.885 0.95 0.100 None 0 0
Entrez Id: 9213
Gene Symbol: XPR1
XPR1 		Q9UBH6 xenotropic and polytropic retrovirus receptor 1 Transporter 217 0.488 0.731 1.00 0.100 None 0 0
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.010 None 1.000 1 0 2001 2001
Entrez Id: 4036
Gene Symbol: LRP2
LRP2 		P98164 LDL receptor related protein 2 254 0.491 0.846 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.120 None 1.000 2 0 2001 2003
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		P55265 adenosine deaminase RNA specific Enzyme 256 0.501 0.808 2.6E-02 0.100 None 0 0
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.100 None 0 1
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C 		Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 225 0.510 0.846 1.00 0.100 None 0 1
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 170302
Gene Symbol: ARX
ARX 		Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 0.100 None 0 0
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 7507
Gene Symbol: XPA
XPA 		P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 209 0.520 0.846 7.9E-05 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0