Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DST Q03001 dystonin Cellular structure 1.00 0.552 0.846
UBA1 P22314 ubiquitin like modifier activating enzyme 1 Enzyme 1.00 0.666 0.615
OCRL Q01968 OCRL inositol polyphosphate-5-phosphatase Enzyme 1.00 0.553 0.731
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
LMNA P02545 lamin A/C 1.00 0.384 0.885
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
TRIM2 Q9C040 tripartite motif containing 2 Enzyme 1.00 0.686 0.538
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
SPEG Q15772 striated muscle enriched protein kinase Kinase 0.92 0.686 0.385
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
H3-3A P84243 H3.3 histone A 0.12 0.559 0.692
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
PEX3 P56589 peroxisomal biogenesis factor 3 1.6E-02 0.595 0.731
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808