Disease: Distal lower limb muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AGRN O00468 agrin 5.5E-07 0.626 0.538
ATL1 Q8WXF7 atlastin GTPase 1 Enzyme modulator 0.98 0.593 0.654
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HARS1 P12081 histidyl-tRNA synthetase 1 Enzyme 2.4E-06 0.569 0.808
HINT1 P49773 histidine triad nucleotide binding protein 1 Enzyme 1.8E-03 0.619 0.577
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
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
NEFL P07196 neurofilament light 0.488 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654