Disease: Absent reflex
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
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LMNA P02545 lamin A/C 1.00 0.384 0.885
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEFL P07196 neurofilament light 0.488 0.769
PLEC Q15149 plectin Cellular structure 8.3E-12 0.523 0.808
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615