Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
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
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538
GOSR2 O14653 golgi SNAP receptor complex member 2 Transporter 4.7E-07 0.653 0.423
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
INPP5K Q9BT40 inositol polyphosphate-5-phosphatase K Enzyme 4.2E-05 0.587 0.654
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LAMB2 P55268 laminin subunit beta 2 Enzyme modulator 2.5E-19 0.601 0.654
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
NEB P20929 nebulin 4.6E-41 0.608 0.692
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808