Disease: Respiratory insufficiency due to muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
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
CRYAB P02511 crystallin alpha B 2.2E-02 0.515 0.731
DES P17661 desmin 8.8E-03 0.460 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
EMD P50402 emerin 0.93 0.542 0.731
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
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
MYF6 P23409 myogenic factor 6 Transcription factor 4.1E-03 0.691 0.423
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692