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
AGRN O00468 agrin 5.5E-07 0.626 0.538
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
GAN Q9H2C0 gigaxonin 2.5E-02 0.674 0.500
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
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
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
PRX Q9BXM0 periaxin 2.1E-14 0.650 0.577
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SBF2 Q86WG5 SET binding factor 2 Enzyme 6.4E-10 0.619 0.577
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654