Disease: Shoulder girdle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD5 Q8WTS1 abhydrolase domain containing 5 6.4E-07 0.641 0.538
AGRN O00468 agrin 5.5E-07 0.626 0.538
AK9 Q5TCS8 adenylate kinase 9 Kinase 3.7E-26 0.751 0.346
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
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
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692
GYG1 P46976 glycogenin 1 Enzyme 4.8E-12 0.722 0.308
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
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POLG2 Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 1.5E-10 0.558 0.769
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
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731