Disease: Distal lower limb muscle weakness
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
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 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
HARS1 P12081 histidyl-tRNA synthetase 1 Enzyme 2.4E-06 0.569 0.808
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
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
HINT1 P49773 histidine triad nucleotide binding protein 1 Enzyme 1.8E-03 0.619 0.577
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
ATL1 Q8WXF7 atlastin GTPase 1 Enzyme modulator 0.98 0.593 0.654
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462