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
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
BVES Q8NE79 blood vessel epicardial substance 9.3E-06 0.722 0.308
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
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
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
FLNC Q14315 filamin C 1.00 0.568 0.615
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
SGCA Q16586 sarcoglycan alpha Calcium-binding protein 2.7E-03 0.592 0.654
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
SYNE2 Q8WXH0 spectrin repeat containing nuclear envelope protein 2 1.7E-25 0.623 0.692