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
ADCY6 O43306 adenylate cyclase 6 5.8E-03 0.729 0.500
AGRN O00468 agrin 5.5E-07 0.626 0.538
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CDK5 Q00535 cyclin dependent kinase 5 Kinase 0.14 0.495 0.846
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CNTN1 Q12860 contactin 1 0.15 0.599 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DPAGT1 Q9H3H5 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Enzyme 1.1E-05 0.621 0.538
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LGI4 Q8N135 leucine rich repeat LGI family member 4 7.2E-03 0.678 0.308
LMNA P02545 lamin A/C 1.00 0.384 0.885
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
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