Disease: Distal muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
DES P17661 desmin 8.8E-03 0.460 0.846
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FBLN5 Q9UBX5 fibulin 5 Calcium-binding protein 1.00 0.546 0.692
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
FUS P35637 FUS RNA binding protein Nucleic acid binding 1.00 0.470 0.846
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HK1 P19367 hexokinase 1 Kinase 0.91 0.542 0.731
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
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LITAF Q99732 lipopolysaccharide induced TNF factor Transcription factor 3.1E-02 0.650 0.462
LMNA P02545 lamin A/C 1.00 0.384 0.885
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500