Disease: Distal amyotrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATL1 Q8WXF7 atlastin GTPase 1 Enzyme modulator 0.98 0.593 0.654
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MTMR2 Q13614 myotubularin related protein 2 Enzyme 3.0E-07 0.659 0.538
NEFL P07196 neurofilament light 0.488 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
RAB7A P51149 RAB7A, member RAS oncogene family 0.97 0.597 0.692
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
TDP1 Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 1.3E-17 0.612 0.538