Disease: Hereditary Motor and Sensory-Neuropathy Type II
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
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
HINT1 P49773 histidine triad nucleotide binding protein 1 Enzyme 1.8E-03 0.619 0.577
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
HSPB2 Q16082 heat shock protein family B (small) member 2 3.3E-04 0.457 0.769
HSPB3 Q12988 heat shock protein family B (small) member 3 6.1E-05 0.448 0.769
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
KIF5A Q12840 kinesin family member 5A Cellular structure 1.00 0.593 0.731
LMNA P02545 lamin A/C 1.00 0.384 0.885
MAD2L1BP Q15013 MAD2L1 binding protein 1.4E-08 0.623 0.577
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MPZ P25189 myelin protein zero 0.27 0.503 0.846
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
RNMT O43148 RNA guanine-7 methyltransferase 5.7E-05 0.647 0.500
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615
SPTLC1 O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 4.2E-11 0.650 0.538
SRI P30626 sorcin 3.5E-10 0.587 0.769
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808