Disease: Charcot-Marie-Tooth Disease
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
YARS2 Q9Y2Z4 tyrosyl-tRNA synthetase 2 Enzyme 3.0E-11 0.663 0.462
YARS1 P54577 tyrosyl-tRNA synthetase 1 Enzyme 1.0E-03 0.705 0.500
WARS1 P23381 tryptophanyl-tRNA synthetase 1 Enzyme 0.30 0.650 0.654
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TRIM2 Q9C040 tripartite motif containing 2 Enzyme 1.00 0.686 0.538
TNFRSF1B P20333 TNF receptor superfamily member 1B 0.50 0.425 0.885
TNF P01375 tumor necrosis factor Signaling 0.80 0.231 0.962
TFG Q92734 trafficking from ER to golgi regulator 0.14 0.595 0.615
TARDBP Q13148 TAR DNA binding protein 0.99 0.493 0.808
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
STMN1 P16949 stathmin 1 7.5E-02 0.458 0.885
SPTLC2 O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 0.78 0.736 0.346
SPTLC1 O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 4.2E-11 0.650 0.538
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538
SORT1 Q99523 sortilin 1 Transporter 1.00 0.573 0.615
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962
SNURF P63162 Q9Y675 SNRPN upstream reading frame 0.46 0.623 0.538
SNRPN P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 4.3E-02 0.538 0.731
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
SLC25A46 Q96AG3 solute carrier family 25 member 46 Transporter 1.3E-05 0.695 0.308
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846