Disease: Foot dorsiflexor weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADSS1 Q8N142 adenylosuccinate synthase 1 Enzyme 2.8E-07 0.722 0.385
BSCL2 Q96G97 BSCL2 lipid droplet biogenesis associated, seipin 1.1E-09 0.545 0.692
COA7 Q96BR5 cytochrome c oxidase assembly factor 7 (putative) 6.0E-02 0.792 0.231
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
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
GNE Q9Y223 glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Enzyme 2.5E-16 0.610 0.692
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
LRP12 Q9Y561 LDL receptor related protein 12 Enzyme 1.00 0.743 0.462
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
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385
NEFL P07196 neurofilament light 0.488 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
PRX Q9BXM0 periaxin 2.1E-14 0.650 0.577
RAB7A P51149 RAB7A, member RAS oncogene family 0.97 0.597 0.692
SACS Q9NZJ4 sacsin molecular chaperone 1.1E-23 0.606 0.654