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: 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 2
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Q6ICL3 transport and golgi organization 2 homolog 83 0.666 0.615 1.5E-04 0.100 None 1.000 1 1 2016 2016
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
P33897 ATP binding cassette subfamily D member 1 Transporter 154 0.563 0.731 1.00 0.100 None 1.000 1 1 1998 1998
Entrez Id: 138050
Gene Symbol: HGSNAT
HGSNAT
Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 108 0.628 0.577 6.3E-08 0.100 None 0 1
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
Q9NRG9 aladin WD repeat nucleoporin 92 0.601 0.654 2.4E-13 0.100 None 0 1
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: 1654
Gene Symbol: DDX3X
DDX3X
O00571 DEAD-box helicase 3 X-linked 180 0.537 0.769 1.00 0.100 None 0 1
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
Q9H902 receptor accessory protein 1 Transporter 79 0.653 0.423 0.99 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 316 0.474 0.846 2.4E-04 0.100 None 0 0
Entrez Id: 6253
Gene Symbol: RTN2
RTN2
O75298 reticulon 2 43 0.711 0.385 0.42 0.100 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
P51812 ribosomal protein S6 kinase A3 Kinase 315 0.491 0.846 1.00 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 5981
Gene Symbol: RFC1
RFC1
P35251 replication factor C subunit 1 144 0.541 0.808 0.97 0.100 None 0 0
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 206 0.551 0.769 8.1E-04 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
Q96Q42 alsin Rho guanine nucleotide exchange factor ALS2 84 0.647 0.423 8.7E-12 0.100 None 0 0
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
P54253 ataxin 1 218 0.534 0.769 0.97 0.100 None 0 0
Entrez Id: 6314
Gene Symbol: ATXN7
ATXN7
O15265 ataxin 7 162 0.581 0.654 0.96 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
Q9UBP0 spastin Cellular structure 138 0.579 0.577 1.00 0.100 None 0 0
Entrez Id: 6509
Gene Symbol: SLC1A4
SLC1A4
P43007 solute carrier family 1 member 4 Transporter 40 0.700 0.385 6.6E-02 0.100 None 0 0
Entrez Id: 65109
Gene Symbol: UPF3B
UPF3B
Q9BZI7 UPF3B regulator of nonsense mediated mRNA decay 99 0.619 0.615 0.98 0.100 None 0 0
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1
A6NFY7 succinate dehydrogenase complex assembly factor 1 88 0.656 0.462 8.7E-02 0.100 None 0 0