Disease: Generalized 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
ATP13A2 Q9NQ11 ATPase cation transporting 13A2 9.0E-09 0.566 0.577
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769
CAVIN1 Q6NZI2 caveolae associated protein 1 Transcription factor 5.0E-03 0.559 0.654
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
DNAJB6 O75190 DnaJ heat shock protein family (Hsp40) member B6 0.85 0.659 0.462
EGF P01133 epidermal growth factor 8.5E-17 0.357 0.923
FUS P35637 FUS RNA binding protein Nucleic acid binding 1.00 0.470 0.846
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
LMOD3 Q0VAK6 leiomodin 3 Cellular structure 1.6E-07 0.700 0.423
MATR3 P43243 matrin 3 1.00 0.631 0.538
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEK1 Q96PY6 NIMA related kinase 1 Kinase 1.9E-25 0.575 0.769