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: 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: 472
Gene Symbol: ATM
ATM 		Q13315 ATM serine/threonine kinase Kinase 684 0.374 0.885 5.6E-47 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
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: 6513
Gene Symbol: SLC2A1
SLC2A1 		P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.100 None 0 0
Entrez Id: 65993
Gene Symbol: MRPS34
MRPS34 		P82930 mitochondrial ribosomal protein S34 29 0.722 0.346 2.6E-03 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2 		P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.100 None 0 0
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1 		Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 64 0.653 0.462 4.0E-04 0.100 None 0 0
Entrez Id: 8573
Gene Symbol: CASK
CASK 		O14936 calcium/calmodulin dependent serine protein kinase Kinase 193 0.538 0.808 1.00 0.100 None 0 0
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 121 0.588 0.731 0.99 0.100 None 0 0
Entrez Id: 81570
Gene Symbol: CLPB
CLPB 		Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 72 0.631 0.654 5.0E-04 0.100 None 0 0
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17 		Q5H9S7 DDB1 and CUL4 associated factor 17 59 0.653 0.577 3.7E-07 0.100 None 0 0
Entrez Id: 80025
Gene Symbol: PANK2
PANK2 		Q9BZ23 pantothenate kinase 2 Kinase 171 0.559 0.808 7.4E-07 0.100 None 0 0
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		Q9H936 solute carrier family 25 member 22 Transporter 106 0.595 0.577 6.6E-03 0.100 None 0 0
Entrez Id: 79133
Gene Symbol: NDUFAF5
NDUFAF5 		Q5TEU4 NADH:ubiquinone oxidoreductase complex assembly factor 5 70 0.674 0.462 3.1E-10 0.100 None 0 0
Entrez Id: 774
Gene Symbol: CACNA1B
CACNA1B 		Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 79 0.650 0.577 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 0
Entrez Id: 6857
Gene Symbol: SYT1
SYT1 		P21579 synaptotagmin 1 Transporter 460 0.412 0.846 0.60 0.100 None 0 0
Entrez Id: 6821
Gene Symbol: SUOX
SUOX 		P51687 sulfite oxidase 67 0.638 0.615 9.4E-07 0.100 None 0 0
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		P61764 syntaxin binding protein 1 Transporter 213 0.532 0.692 1.00 0.100 None 0 0
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		O76039 cyclin dependent kinase like 5 Kinase 224 0.522 0.692 1.00 0.100 None 0 0
Entrez Id: 6697
Gene Symbol: SPR
SPR 		P35270 sepiapterin reductase 90 0.631 0.654 4.3E-02 0.100 None 0 0
Entrez Id: 9213
Gene Symbol: XPR1
XPR1 		Q9UBH6 xenotropic and polytropic retrovirus receptor 1 Transporter 217 0.488 0.731 1.00 0.100 None 0 0