Disease: Generalized muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
ACAD9 Q9H845 acyl-CoA dehydrogenase family member 9 Enzyme 4.5E-08 0.722 0.269
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
ORAI1 Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 1.9E-05 0.520 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
SGCA Q16586 sarcoglycan alpha Calcium-binding protein 2.7E-03 0.592 0.654
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
VCP P55072 valosin containing protein 1.00 0.469 0.923
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
ACADL P28330 acyl-CoA dehydrogenase long chain Enzyme 1.7E-12 0.736 0.462
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808