Disease: Generalized muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CAPN3 P20807 calpain 3 Enzyme 3.6E-19 0.564 0.615
CAVIN1 Q6NZI2 caveolae associated protein 1 Transcription factor 5.0E-03 0.559 0.654
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
DNAJB6 O75190 DnaJ heat shock protein family (Hsp40) member B6 0.85 0.659 0.462
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HNRNPA1 P09651 heterogeneous nuclear ribonucleoprotein A1 1.00 0.529 0.885
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
LDB3 O75112 LIM domain binding 3 Cellular structure 9.6E-06 0.659 0.385
MATR3 P43243 matrin 3 1.00 0.631 0.538
NEB P20929 nebulin 4.6E-41 0.608 0.692
ORAI1 Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 1.9E-05 0.520 0.808
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
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
SGCA Q16586 sarcoglycan alpha Calcium-binding protein 2.7E-03 0.592 0.654