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
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
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
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
LRP12 Q9Y561 LDL receptor related protein 12 Enzyme 1.00 0.743 0.462
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
MTMR14 Q8NCE2 myotubularin related protein 14 1.4E-07 0.674 0.615