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: 112476
Gene Symbol: PRRT2
PRRT2 		Q7Z6L0 proline rich transmembrane protein 2 353 0.448 0.808 0.58 0.180 None 1.000 8 0 2012 2018
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L 		Q9P0K9 ferric chelate reductase 1 like 60 0.666 0.231 1.5E-03 0.120 None 1.000 2 0 2016 2019
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		P43699 NK2 homeobox 1 Transcription factor 319 0.457 0.808 0.36 0.120 None 1.000 2 0 2012 2014
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1 		P00492 hypoxanthine phosphoribosyltransferase 1 Enzyme 210 0.500 0.808 0.94 0.120 None 1.000 2 0 2001 2003
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 0.110 None 1.000 1 0 2001 2001
Entrez Id: 80207
Gene Symbol: OPA3
OPA3 		Q9H6K4 outer mitochondrial membrane lipid metabolism regulator OPA3 77 0.653 0.385 0.57 0.110 None 1.000 1 0 2015 2015
Entrez Id: 54840
Gene Symbol: APTX
APTX 		Q7Z2E3 aprataxin Nucleic acid binding 94 0.590 0.500 4.0E-10 0.110 None 1.000 1 0 2000 2000
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5 		Q9UNP4 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 78 0.650 0.654 1.3E-03 0.110 None 1.000 1 0 2018 2018
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.110 None 1.000 1 1 2016 2016
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: 5813
Gene Symbol: PURA
PURA 		Q00577 purine rich element binding protein A Nucleic acid binding 83 0.644 0.500 0.94 0.100 None 0 1
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 232 0.518 0.731 1.00 0.100 None 0 0
Entrez Id: 5805
Gene Symbol: PTS
PTS 		Q03393 6-pyruvoyltetrahydropterin synthase 89 0.636 0.654 6.5E-06 0.100 None 0 0
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: 5860
Gene Symbol: QDPR
QDPR 		P09417 quinoid dihydropteridine reductase Enzyme 45 0.691 0.500 1.5E-04 0.100 None 0 0
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.100 None 0 0
Entrez Id: 4761
Gene Symbol: NEUROD2
NEUROD2 		Q15784 neuronal differentiation 2 Enzyme 86 0.619 0.538 0.94 0.100 None 0 0
Entrez Id: 477
Gene Symbol: ATP1A2
ATP1A2 		P50993 ATPase Na+/K+ transporting subunit alpha 2 Transporter 102 0.597 0.615 1.8E-04 0.100 None 0 0
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13 		Q9P0J0 NADH:ubiquinone oxidoreductase subunit A13 Enzyme 131 0.556 0.692 3.8E-06 0.100 None 0 0
Entrez Id: 51227
Gene Symbol: PIGP
PIGP 		P57054 phosphatidylinositol glycan anchor biosynthesis class P 85 0.633 0.462 1.9E-03 0.100 None 0 0
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		P08559 pyruvate dehydrogenase E1 subunit alpha 1 129 0.581 0.538 0.99 0.100 None 0 0
Entrez Id: 5354
Gene Symbol: PLP1
PLP1 		P60201 proteolipid protein 1 Cellular structure 160 0.543 0.769 0.93 0.100 None 0 0
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: 54676
Gene Symbol: GTPBP2
GTPBP2 		Q9BX10 GTP binding protein 2 Enzyme 44 0.736 0.423 0.32 0.100 None 0 0
Entrez Id: 55250
Gene Symbol: ELP2
ELP2 		Q6IA86 elongator acetyltransferase complex subunit 2 30 0.716 0.538 4.2E-20 0.100 None 0 0