Disease: Proximal muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385
AGRN O00468 agrin 5.5E-07 0.626 0.538
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
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
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MTMR2 Q13614 myotubularin related protein 2 Enzyme 3.0E-07 0.659 0.538
MYH14 Q7Z406 myosin heavy chain 14 4.2E-02 0.663 0.577
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
PLEKHG5 O94827 pleckstrin homology and RhoGEF domain containing G5 3.4E-06 0.674 0.385
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
SDHA P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 2.6E-10 0.517 0.731
SDHAF1 A6NFY7 succinate dehydrogenase complex assembly factor 1 8.7E-02 0.656 0.462
SDHB P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 2.4E-04 0.474 0.846
SDHD O14521 succinate dehydrogenase complex subunit D Transporter 0.34 0.472 0.885
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731