Disease: Neck flexor 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
AK9 Q5TCS8 adenylate kinase 9 Kinase 3.7E-26 0.751 0.346
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNB1 P11230 cholinergic receptor nicotinic beta 1 subunit Ion channel 5.0E-08 0.700 0.462
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DES P17661 desmin 8.8E-03 0.460 0.846
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
GYG1 P46976 glycogenin 1 Enzyme 4.8E-12 0.722 0.308
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
NEB P20929 nebulin 4.6E-41 0.608 0.692
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SGCG Q13326 sarcoglycan gamma Cellular structure 4.8E-05 0.621 0.615
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885