Disease: Hereditary Motor and Sensory Neuropathy Type I
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500
MAD2L1BP Q15013 MAD2L1 binding protein 1.4E-08 0.623 0.577
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
PXMP2 Q9NR77 peroxisomal membrane protein 2 Receptor 9.2E-03 0.743 0.192
RNMT O43148 RNA guanine-7 methyltransferase 5.7E-05 0.647 0.500
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808