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: 4204
Gene Symbol: MECP2
MECP2
P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.190 None 1.000 9 1 2000 2016
Entrez Id: 101060233
Gene Symbol: OPN1MW3
OPN1MW3
P04001 P0DN77 P0DN78 opsin 1, medium wave sensitive 3 80 0.601 0.769 0.070 None 1.000 7 0 2017 2019
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.460 None 1.000 7 1 2002 2019
Entrez Id: 2652
Gene Symbol: OPN1MW
OPN1MW
P04001 P0DN77 P0DN78 opsin 1, medium wave sensitive G-protein coupled receptor 107 0.572 0.769 3.8E-02 0.070 None 1.000 7 0 2017 2019
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
Q9H2X9 solute carrier family 12 member 5 Transporter 135 0.570 0.654 1.00 0.070 None 1.000 7 0 2017 2020
Entrez Id: 728458
Gene Symbol: OPN1MW2
OPN1MW2
P04001 P0DN77 P0DN78 opsin 1, medium wave sensitive 2 80 0.601 0.769 0.24 0.070 None 1.000 7 0 2017 2019
Entrez Id: 7454
Gene Symbol: WAS
WAS
P42768 WASP actin nucleation promoting factor Cellular structure 204 0.529 0.808 1.00 0.050 None 1.000 5 0 2017 2019
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.150 None 1.000 5 0 2004 2011
Entrez Id: 51062
Gene Symbol: ATL1
ATL1
Q8WXF7 atlastin GTPase 1 Enzyme modulator 112 0.593 0.654 0.98 0.050 None 1.000 5 0 2013 2017
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.040 None 1.000 4 0 1995 2015
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
P32004 L1 cell adhesion molecule 289 0.475 0.769 1.00 0.140 None 1.000 4 0 2001 2019
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.040 None 1.000 4 0 2013 2019
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.120 None 1.000 3 9 2012 2019
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.130 None 1.000 3 0 2002 2006
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.130 None 1.000 3 0 2000 2009
Entrez Id: 3483
Gene Symbol: IGFALS
IGFALS
P35858 insulin like growth factor binding protein acid labile subunit Receptor 203 0.511 0.846 5.4E-11 0.030 None 1.000 3 0 2005 2019
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.130 None 1.000 3 0 2011 2019
Entrez Id: 6647
Gene Symbol: SOD1
SOD1
P00441 superoxide dismutase 1 Enzyme 689 0.379 0.962 0.18 0.130 None 1.000 3 0 2005 2019
Entrez Id: 57165
Gene Symbol: GJC2
GJC2
Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.030 None 1.000 3 0 2010 2012
Entrez Id: 23259
Gene Symbol: DDHD2
DDHD2
O94830 DDHD domain containing 2 Enzyme 37 0.695 0.577 1.4E-10 0.020 None 1.000 2 0 2018 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 221 0.545 0.692 1.1E-09 0.120 None 1.000 2 0 2004 2004
Entrez Id: 3952
Gene Symbol: LEP
LEP
P41159 leptin 931 0.349 0.846 0.46 0.020 None 1.000 2 0 2016 2017
Entrez Id: 4397
Gene Symbol: MS
MS
multiple sclerosis 95 0.599 0.692 0.020 None 1.000 2 0 2019 2019
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
Q9H902 receptor accessory protein 1 Transporter 79 0.653 0.423 0.99 0.020 None 1.000 2 0 2012 2019
Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
P51648 aldehyde dehydrogenase 3 family member A2 78 0.619 0.769 9.4E-06 0.120 None 1.000 2 0 2001 2006