Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
NDRG1 Q92597 N-myc downstream regulated 1 Enzyme 1.1E-02 0.488 0.731
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
ENTPD1 P49961 ectonucleoside triphosphate diphosphohydrolase 1 Enzyme 8.1E-03 0.499 0.769
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
ASAH1 Q13510 N-acylsphingosine amidohydrolase 1 Enzyme 1.3E-12 0.526 0.808
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
MPZ P25189 myelin protein zero 0.27 0.503 0.846
OPA1 O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 0.99 0.510 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
LMNA P02545 lamin A/C 1.00 0.384 0.885
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885