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: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.100 None 1.000 1 2 2016 2016
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: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5
BIVM-ERCC5 readthrough 15 0.736 0.308 1.3E-15 0.100 None 0 1
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 1
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
P07196 neurofilament light 247 0.488 0.769 0.100 None 0 1
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.100 None 0 1
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
Q9UMZ3 protein tyrosine phosphatase receptor type Q 21 0.751 0.462 4.2E-21 0.100 None 0 1
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.100 None 0 1
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
P28715 ERCC excision repair 5, endonuclease 238 0.499 0.731 2.7E-13 0.100 None 0 1
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 174 0.547 0.769 1.00 0.100 None 0 1
Entrez Id: 121512
Gene Symbol: FGD4
FGD4
Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 48 0.678 0.462 9.8E-03 0.100 None 0 1
Entrez Id: 10516
Gene Symbol: FBLN5
FBLN5
Q9UBX5 fibulin 5 Calcium-binding protein 150 0.546 0.692 1.00 0.100 None 0 1
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: 5376
Gene Symbol: PMP22
PMP22
Q01453 peripheral myelin protein 22 Cellular structure 341 0.471 0.885 0.91 0.020 None 1.000 2 0 2010 2011
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1
P11362 fibroblast growth factor receptor 1 Kinase 816 0.362 0.885 1.00 0.010 None 1.000 1 0 2010 2010
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: 478
Gene Symbol: ATP1A3
ATP1A3
P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
P50570 dynamin 2 Enzyme modulator 178 0.542 0.769 1.00 0.010 None 1.000 1 0 2012 2012
Entrez Id: 8898
Gene Symbol: MTMR2
MTMR2
Q13614 myotubularin related protein 2 Enzyme 50 0.659 0.538 3.0E-07 0.010 None 1.000 1 2 2019 2019