Disease: Foot dorsiflexor weakness
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
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ATP1A1 P05023 ATPase Na+/K+ transporting subunit alpha 1 Transporter 1.00 0.601 0.808
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
COX6A1 P12074 cytochrome c oxidase subunit 6A1 Enzyme 2.3E-03 0.780 0.154
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
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
INF2 Q27J81 inverted formin, FH2 and WH2 domain containing 0.97 0.644 0.423
KARS1 Q15046 lysyl-tRNA synthetase 1 Enzyme 4.2E-09 0.636 0.577
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LBR Q14739 lamin B receptor Enzyme 0.18 0.473 0.808
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
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
MME P08473 membrane metalloendopeptidase Enzyme 1.5E-18 0.407 0.808
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
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