Disease: Proximal muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
BIN1 O00499 bridging integrator 1 0.78 0.550 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
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731
LMNA P02545 lamin A/C 1.00 0.384 0.885
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
MTMR2 Q13614 myotubularin related protein 2 Enzyme 3.0E-07 0.659 0.538
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
NEB P20929 nebulin 4.6E-41 0.608 0.692
PLEKHG5 O94827 pleckstrin homology and RhoGEF domain containing G5 3.4E-06 0.674 0.385
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654