Disease: Hereditary Motor and Sensory-Neuropathy Type II
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NEFL P07196 neurofilament light 0.488 0.769
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
DHTKD1 Q96HY7 dehydrogenase E1 and transketolase domain containing 1 2.8E-30 0.711 0.385
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
LRSAM1 Q6UWE0 leucine rich repeat and sterile alpha motif containing 1 3.1E-13 0.638 0.500
SPTLC1 O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 4.2E-11 0.650 0.538
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
MAD2L1BP Q15013 MAD2L1 binding protein 1.4E-08 0.623 0.577
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
SLC25A46 Q96AG3 solute carrier family 25 member 46 Transporter 1.3E-05 0.695 0.308
DNAJB2 P25686 DnaJ heat shock protein family (Hsp40) member B2 5.4E-05 0.743 0.192
RNMT O43148 RNA guanine-7 methyltransferase 5.7E-05 0.647 0.500
HSPB3 Q12988 heat shock protein family B (small) member 3 6.1E-05 0.448 0.769
HSPB2 Q16082 heat shock protein family B (small) member 2 3.3E-04 0.457 0.769
HINT1 P49773 histidine triad nucleotide binding protein 1 Enzyme 1.8E-03 0.619 0.577
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
HOXD10 P28358 homeobox D10 6.3E-02 0.590 0.538
TFG Q92734 trafficking from ER to golgi regulator 0.14 0.595 0.615
MPZ P25189 myelin protein zero 0.27 0.503 0.846
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731