Disease: Distal muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
SPTLC1 O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 4.2E-11 0.650 0.538
DHH O43323 desert hedgehog signaling molecule 0.22 0.650 0.423
KIF1B O60333 kinesin family member 1B Cellular structure 1.00 0.516 0.808
DYSF O75923 dysferlin Transporter 3.7E-33 0.582 0.692
PLEKHG5 O94827 pleckstrin homology and RhoGEF domain containing G5 3.4E-06 0.674 0.385
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
LMNA P02545 lamin A/C 1.00 0.384 0.885
HSPB1 P04792 heat shock protein family B (small) member 1 2.8E-07 0.436 0.808
NEFL P07196 neurofilament light 0.488 0.769
GJB1 P08034 gap junction protein beta 1 Cell-cell junction 0.85 0.514 0.731
EGR2 P11161 early growth response 2 Nucleic acid binding 0.50 0.547 0.769
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
GARS1 P41250 glycyl-tRNA synthetase 1 Enzyme 0.31 0.623 0.500
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
RAB7A P51149 RAB7A, member RAS oncogene family 0.97 0.597 0.692
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
VCP P55072 valosin containing protein 1.00 0.469 0.923
SOX10 P56693 SRY-box transcription factor 10 0.99 0.461 0.808
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769