Disease: Distal lower limb muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NEFL P07196 neurofilament light 0.488 0.769
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
TDP1 Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 1.3E-17 0.612 0.538
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
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
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
AGRN O00468 agrin 5.5E-07 0.626 0.538
HARS1 P12081 histidyl-tRNA synthetase 1 Enzyme 2.4E-06 0.569 0.808
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
HINT1 P49773 histidine triad nucleotide binding protein 1 Enzyme 1.8E-03 0.619 0.577
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731