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: 6311
Gene Symbol: ATXN2
ATXN2
Q99700 ataxin 2 Nucleic acid binding 341 0.482 0.808 0.85 0.130 None 1.000 3 0 1994 2019
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
Q06787 FMRP translational regulator 1 Nucleic acid binding 346 0.473 0.769 0.65 0.100 None 1.000 11 0 2002 2018
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12
Q8N2K0 abhydrolase domain containing 12 Enzyme 60 0.666 0.385 1.9E-05 0.100 None 1.000 1 1 2018 2018
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 0 0
Entrez Id: 63929
Gene Symbol: XPNPEP3
XPNPEP3
Q9NQH7 X-prolyl aminopeptidase 3 Enzyme 20 0.769 0.269 1.9E-08 0.100 None 0 0
Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 42 0.769 0.269 6.3E-09 0.100 None 0 1
Entrez Id: 84919
Gene Symbol: PPP1R15B
PPP1R15B
Q5SWA1 protein phosphatase 1 regulatory subunit 15B 41 0.722 0.462 0.15 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 1
Entrez Id: 4128
Gene Symbol: MAOA
MAOA
P21397 monoamine oxidase A 300 0.465 0.769 1.00 0.100 None 0 0
Entrez Id: 388662
Gene Symbol: SLC6A17
SLC6A17
Q9H1V8 solute carrier family 6 member 17 21 0.780 0.308 0.50 0.100 None 0 0
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 175 0.551 0.885 2.8E-15 0.100 None 0 1
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.100 None 0 2
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.030 None 1.000 3 0 2001 2012
Entrez Id: 4061
Gene Symbol: LY6E
LY6E
Q16553 lymphocyte antigen 6 family member E 115 0.563 0.808 0.32 0.030 None 1.000 3 0 1994 2019
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
Q13620 cullin 4B Enzyme 162 0.556 0.769 1.00 0.010 None 1.000 1 0 2010 2010
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.010 None < 0.001 1 0 2008 2008
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1
Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.010 None 1.000 1 0 2015 2015
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.010 None 1.000 1 0 1997 1997
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
Q92562 FIG4 phosphoinositide 5-phosphatase 223 0.551 0.731 2.3E-34 0.010 None 1.000 1 0 2018 2018