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: 100379198
Gene Symbol: ECT
ECT
centralopathic epilepsy 62 0.626 0.423 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.010 None 1.000 1 1 2013 2013
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
SCN1A and SCN9A antisense RNA 1 58 0.636 0.346 0.100 None 0 5
Entrez Id: 283692
Gene Symbol: CPEB1-AS1
CPEB1-AS1
CPEB1 antisense RNA 1 3 0.931 0.038 0.100 None 0 2
Entrez Id: 9098
Gene Symbol: USP6
USP6
P35125 ubiquitin specific peptidase 6 Enzyme 55 0.633 0.692 2.9E-35 0.010 None 1.000 1 0 2019 2019
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
P35670 ATPase copper transporting beta Transporter 182 0.529 0.654 4.8E-30 0.100 None 0 1
Entrez Id: 197258
Gene Symbol: FCSK
FCSK
Q8N0W3 fucose kinase Kinase 22 0.769 0.192 1.0E-29 0.100 None 0 0
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
Q96HP0 dedicator of cytokinesis 6 Enzyme modulator 84 0.610 0.577 1.3E-26 0.010 None 1.000 1 0 2018 2018
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 141 0.551 0.769 1.4E-22 0.030 None 1.000 3 0 2016 2019
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.010 None 1.000 1 0 2017 2017
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A
Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 213 0.543 0.615 4.8E-19 0.110 None 1.000 1 0 2020 2020
Entrez Id: 10058
Gene Symbol: ABCB6
ABCB6
Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 400 0.431 0.885 8.6E-19 0.010 None 1.000 1 0 2017 2017
Entrez Id: 60558
Gene Symbol: GUF1
GUF1
Q8N442 GUF1 homolog, GTPase Enzyme 13 0.805 0.154 5.3E-18 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.020 None 1.000 2 0 2015 2017
Entrez Id: 57176
Gene Symbol: VARS2
VARS2
Q5ST30 valyl-tRNA synthetase 2, mitochondrial 37 0.666 0.577 5.8E-17 0.020 None 1.000 2 0 2019 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.170 None 1.000 7 2 2015 2019
Entrez Id: 8567
Gene Symbol: MADD
MADD
Q8WXG6 MAP kinase activating death domain 57 0.644 0.538 1.5E-14 0.010 None 1.000 1 0 2016 2016
Entrez Id: 23334
Gene Symbol: SZT2
SZT2
Q5T011 SZT2 subunit of KICSTOR complex 72 0.670 0.423 2.3E-14 0.160 None 1.000 6 0 2013 2019
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.100 None 0 0
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
Q5T160 arginyl-tRNA synthetase 2, mitochondrial 57 0.663 0.462 7.7E-14 0.010 None 1.000 1 0 2016 2016
Entrez Id: 9058
Gene Symbol: SLC13A2
SLC13A2
Q13183 solute carrier family 13 member 2 Transporter 19 0.736 0.346 1.3E-13 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5859
Gene Symbol: QARS1
QARS1
P47897 glutaminyl-tRNA synthetase 1 Enzyme 41 0.716 0.231 2.7E-13 0.010 None 1.000 1 0 2015 2015
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
Q6PJG6 BRCA1 associated ATM activator 1 61 0.695 0.231 7.4E-13 0.010 None 1.000 1 0 2016 2016
Entrez Id: 158
Gene Symbol: ADSL
ADSL
P30566 adenylosuccinate lyase Enzyme 84 0.631 0.654 8.9E-12 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 54802
Gene Symbol: TRIT1
TRIT1
Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 73 0.621 0.692 4.1E-11 0.100 None 0 1