Disease: Distal amyotrophy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
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
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
JPH1 Q9HDC5 junctophilin 1 0.77 0.705 0.269
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
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
REEP1 Q9H902 receptor accessory protein 1 Transporter 0.99 0.653 0.423
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654
SETX Q7Z333 senataxin Enzyme 0.95 0.570 0.731
SH3TC2 Q8TF17 SH3 domain and tetratricopeptide repeats 2 8.3E-16 0.666 0.385
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962
SPG11 Q96JI7 SPG11 vesicle trafficking associated, spatacsin 1.6E-39 0.576 0.538