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
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
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
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
CHP1 Q99653 calcineurin like EF-hand protein 1 0.63 0.546 0.769
COA7 Q96BR5 cytochrome c oxidase assembly factor 7 (putative) 6.0E-02 0.792 0.231
DCAF8 Q5TAQ9 DDB1 and CUL4 associated factor 8 Enzyme modulator 1.00 0.821 0.115
DHH O43323 desert hedgehog signaling molecule 0.22 0.650 0.423
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
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
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
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
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
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808