Disease: Gowers sign
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
ALG14 Q96F25 ALG14 UDP-N-acetylglucosaminyltransferase subunit 9.4E-04 0.722 0.308
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DMD P11532 dystrophin 1.00 0.423 0.923
DNAJB6 O75190 DnaJ heat shock protein family (Hsp40) member B6 0.85 0.659 0.462
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
PYROXD1 Q8WU10 pyridine nucleotide-disulphide oxidoreductase domain 1 Enzyme 6.3E-09 0.769 0.269
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
SPEG Q15772 striated muscle enriched protein kinase Kinase 0.92 0.686 0.385
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