Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
CNTN1 Q12860 contactin 1 0.15 0.599 0.577
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
DST Q03001 dystonin Cellular structure 1.00 0.552 0.846
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FGD4 Q96M96 FYVE, RhoGEF and PH domain containing 4 Enzyme modulator 9.8E-03 0.678 0.462
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
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
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
HADHB P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 1.5E-11 0.619 0.692
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LMNA P02545 lamin A/C 1.00 0.384 0.885