Disease: Chronic progressive external ophthalmoplegia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
ATP8 P03928 ATP synthase F0 subunit 8 Transporter 0.666 0.615
C1QBP Q07021 complement C1q binding protein 2.0E-07 0.569 0.692
CHMP1B Q7LBR1 charged multivesicular body protein 1B Transporter 0.73 0.736 0.462
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
CYTB P00156 cytochrome b 0.529 0.808
DGUOK Q16854 deoxyguanosine kinase Kinase 3.7E-07 0.593 0.500
FGF21 Q9NSA1 fibroblast growth factor 21 Signaling 2.9E-02 0.485 0.769
MAPKAP1 Q9BPZ7 MAPK associated protein 1 1.00 0.610 0.731
MGME1 Q9BQP7 mitochondrial genome maintenance exonuclease 1 1.8E-03 0.695 0.423
MTCO2P12 MT-CO2 pseudogene 12 0.368 0.962
NPTX2 P47972 neuronal pentraxin 2 3.1E-02 0.617 0.615
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POLG2 Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 1.5E-10 0.558 0.769
PRPF6 O94906 pre-mRNA processing factor 6 Nucleic acid binding 3.2E-03 0.621 0.538
RNASEH1 O60930 ribonuclease H1 1.1E-02 0.711 0.462
RNR2 Q8IVG9 l-rRNA 0.603 0.692
RPTOR Q8N122 regulatory associated protein of MTOR complex 1 1.00 0.628 0.692
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
SOD2 P04179 superoxide dismutase 2 Enzyme 0.15 0.379 0.923
SPG7 Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 2.0E-36 0.436 0.885