Disease: Hereditary Motor and Sensory-Neuropathy Type II
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
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
DHTKD1 Q96HY7 dehydrogenase E1 and transketolase domain containing 1 2.8E-30 0.711 0.385
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
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
HOXD10 P28358 homeobox D10 6.3E-02 0.590 0.538
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
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
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808