Disease: Shoulder girdle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VCP P55072 valosin containing protein 1.00 0.469 0.923
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
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
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
POLG2 Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 1.5E-10 0.558 0.769
TRIM32 Q13049 tripartite motif containing 32 1.7E-03 0.587 0.769
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
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
TNPO3 Q9Y5L0 transportin 3 Transporter 1.8E-06 0.663 0.577
TTN-AS1 TTN antisense RNA 1 0.599 0.577
ABHD5 Q8WTS1 abhydrolase domain containing 5 6.4E-07 0.641 0.538