Disease: Distal amyotrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
AGRN O00468 agrin 5.5E-07 0.626 0.538
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
PLEKHG5 O94827 pleckstrin homology and RhoGEF domain containing G5 3.4E-06 0.674 0.385
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
NEFL P07196 neurofilament light 0.488 0.769
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
MPZ P25189 myelin protein zero 0.27 0.503 0.846
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
MRE11 P49959 MRE11 homolog, double strand break repair nuclease 1.3E-12 0.527 0.808
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
RAB7A P51149 RAB7A, member RAS oncogene family 0.97 0.597 0.692
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
VCP P55072 valosin containing protein 1.00 0.469 0.923
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808