Disease: Hereditary Motor and Sensory-Neuropathy Type II
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
DHTKD1 Q96HY7 dehydrogenase E1 and transketolase domain containing 1 2.8E-30 0.711 0.385
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
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
HOXD10 P28358 homeobox D10 6.3E-02 0.590 0.538
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
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
MPZ P25189 myelin protein zero 0.27 0.503 0.846
NEFL P07196 neurofilament light 0.488 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
SLC25A46 Q96AG3 solute carrier family 25 member 46 Transporter 1.3E-05 0.695 0.308
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808