Source: ALL
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: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.200 None 1.000 23 1 2000 2018
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.200 None 0.905 21 0 1995 2019
Entrez Id: 23064
Gene Symbol: SETX
SETX 		Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.200 None 0.941 17 3 2005 2018
Entrez Id: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 0.200 None 1.000 14 0 1998 2020
Entrez Id: 5621
Gene Symbol: PRNP
PRNP 		F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.200 None 1.000 14 4 1991 2017
Entrez Id: 56652
Gene Symbol: TWNK
TWNK 		Q96RR1 twinkle mtDNA helicase Enzyme 245 0.516 0.692 3.2E-03 0.200 None 1.000 12 0 1997 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.200 None 0.909 11 3 2004 2016
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1 		Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.190 None 1.000 9 0 2003 2018
Entrez Id: 7274
Gene Symbol: TTPA
TTPA 		P49638 alpha tocopherol transfer protein Transporter 147 0.612 0.577 1.4E-03 0.190 None 1.000 9 1 1997 2009
Entrez Id: 6908
Gene Symbol: TBP
TBP 		P20226 TATA-box binding protein Transcription factor 158 0.552 0.846 1.5E-02 0.180 None 1.000 8 0 1999 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.180 None 1.000 8 2 2012 2018
Entrez Id: 4508
Gene Symbol: ATP6
ATP6 		P00846 ATP synthase F0 subunit 6 Transporter 226 0.541 0.731 0.170 None 0.875 8 1 2007 2019
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2 		O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.170 None 1.000 7 2 2006 2018
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.150 None 1.000 6 2 2009 2019
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1 		Q09470 potassium voltage-gated channel subfamily A member 1 Ion channel 148 0.573 0.577 7.6E-02 0.150 None 1.000 5 2 2001 2016
Entrez Id: 11284
Gene Symbol: PNKP
PNKP 		Q96T60 polynucleotide kinase 3'-phosphatase 163 0.553 0.692 3.7E-14 0.150 None 1.000 5 0 2017 2019
Entrez Id: 56997
Gene Symbol: COQ8A
COQ8A 		Q8NI60 coenzyme Q8A Kinase 64 0.674 0.385 9.3E-11 0.150 None 1.000 5 2 2008 2019
Entrez Id: 64374
Gene Symbol: SIL1
SIL1 		Q9H173 SIL1 nucleotide exchange factor 115 0.584 0.731 1.2E-02 0.150 None 1.000 5 1 2012 2017
Entrez Id: 10908
Gene Symbol: PNPLA6
PNPLA6 		Q8IY17 patatin like phospholipase domain containing 6 Enzyme 167 0.533 0.769 1.9E-13 0.150 None 1.000 5 0 2014 2019
Entrez Id: 767
Gene Symbol: CA8
CA8 		P35219 carbonic anhydrase 8 87 0.595 0.654 8.3E-03 0.150 None 1.000 5 1 2010 2018
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2 		P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 111 0.612 0.577 0.91 0.140 None 0.750 4 1 2012 2016
Entrez Id: 1476
Gene Symbol: CSTB
CSTB 		P04080 cystatin B Enzyme modulator 155 0.530 0.692 6.6E-03 0.140 None 1.000 4 0 1998 2016
Entrez Id: 116228
Gene Symbol: COX20
COX20 		Q5RI15 cytochrome c oxidase assembly factor COX20 44 0.705 0.538 2.0E-02 0.140 None 1.000 4 1 2013 2019
Entrez Id: 1351
Gene Symbol: COX8A
COX8A 		P10176 cytochrome c oxidase subunit 8A Enzyme 526 0.400 0.846 0.12 0.140 None 1.000 4 0 2010 2019
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19 		Q96DA6 DnaJ heat shock protein family (Hsp40) member C19 53 0.663 0.577 6.1E-04 0.130 None 1.000 3 0 2006 2019