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
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
CASQ1 P31415 calsequestrin 1 3.9E-18 0.722 0.423
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
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
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
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
HNRNPA1 P09651 heterogeneous nuclear ribonucleoprotein A1 1.00 0.529 0.885
HNRNPA2B1 P22626 heterogeneous nuclear ribonucleoprotein A2/B1 1.00 0.566 0.808
LAMP2 P13473 lysosomal associated membrane protein 2 Transporter 0.27 0.552 0.731
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
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
MTMR14 Q8NCE2 myotubularin related protein 14 1.4E-07 0.674 0.615