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: 1200
Gene Symbol: TPP1
TPP1
O14773 tripeptidyl peptidase 1 Enzyme 151 0.551 0.808 6.3E-07 0.100 None 0 0
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
Q9NW15 anoctamin 10 62 0.663 0.500 1.0E-14 0.100 None 0 0
Entrez Id: 55149
Gene Symbol: MTPAP
MTPAP
Q9NVV4 mitochondrial poly(A) polymerase Enzyme 104 0.581 0.769 1.00 0.100 None 0 0
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
P07602 prosaposin 189 0.532 0.846 0.99 0.100 None 0 0
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 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: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.100 None 0 0
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
Q05086 ubiquitin protein ligase E3A 155 0.561 0.692 1.00 0.100 None 0 0
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: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 4508
Gene Symbol: ATP6
ATP6
P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.100 None 0 0
Entrez Id: 1938
Gene Symbol: EEF2
EEF2
P13639 eukaryotic translation elongation factor 2 Enzyme 83 0.599 0.731 1.00 0.100 None 0 0
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 0 0
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.100 None 0 1
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
Q9NQ11 ATPase cation transporting 13A2 160 0.566 0.577 9.0E-09 0.100 None 0 0
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.100 None 0 0
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 0
Entrez Id: 410
Gene Symbol: ARSA
ARSA
P15289 arylsulfatase A Enzyme 376 0.448 0.923 1.1E-11 0.100 None 0 0
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.100 None 0 0
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
Q7L5A8 fatty acid 2-hydroxylase Enzyme 131 0.573 0.654 0.15 0.100 None 0 0