Disease: Difficulty walking up stairs
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
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DMD P11532 dystrophin 1.00 0.423 0.923
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
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
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
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
SGCA Q16586 sarcoglycan alpha Calcium-binding protein 2.7E-03 0.592 0.654
SGCG Q13326 sarcoglycan gamma Cellular structure 4.8E-05 0.621 0.615
SLC25A4 P12235 solute carrier family 25 member 4 Transporter 0.45 0.568 0.692
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
VCP P55072 valosin containing protein 1.00 0.469 0.923