Disease: Distal lower limb muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 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
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
HSPB3 Q12988 heat shock protein family B (small) member 3 6.1E-05 0.448 0.769
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
NEFL P07196 neurofilament light 0.488 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885