Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
NEB P20929 nebulin 4.6E-41 0.608 0.692
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654
PEX3 P56589 peroxisomal biogenesis factor 3 1.6E-02 0.595 0.731
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731
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
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
SPEG Q15772 striated muscle enriched protein kinase Kinase 0.92 0.686 0.385
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
TBCD Q9BTW9 tubulin folding cofactor D Cellular structure 1.0E-07 0.599 0.615
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808