Disease: Respiratory insufficiency due to 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
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731
DES P17661 desmin 8.8E-03 0.460 0.846
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
MATR3 P43243 matrin 3 1.00 0.631 0.538
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
NEB P20929 nebulin 4.6E-41 0.608 0.692
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
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885