Disease: Respiratory insufficiency due to muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
LRP12 Q9Y561 LDL receptor related protein 12 Enzyme 1.00 0.743 0.462
MGME1 Q9BQP7 mitochondrial genome maintenance exonuclease 1 1.8E-03 0.695 0.423
MTMR14 Q8NCE2 myotubularin related protein 14 1.4E-07 0.674 0.615
MYF6 P23409 myogenic factor 6 Transcription factor 4.1E-03 0.691 0.423
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
RNASEH1 O60930 ribonuclease H1 1.1E-02 0.711 0.462
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615
TRNL1 tRNA 0.534 0.731
TRNN tRNA 0.682 0.577