Disease: Distal muscle 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
ABCA1 O95477 ATP binding cassette subfamily A member 1 Transporter 1.5E-13 0.467 0.846
AFG3L2 Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 5.3E-09 0.588 0.462
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
COA7 Q96BR5 cytochrome c oxidase assembly factor 7 (putative) 6.0E-02 0.792 0.231
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DCAF8 Q5TAQ9 DDB1 and CUL4 associated factor 8 Enzyme modulator 1.00 0.821 0.115
DGUOK Q16854 deoxyguanosine kinase Kinase 3.7E-07 0.593 0.500
DNM2 P50570 dynamin 2 Enzyme modulator 1.00 0.542 0.769
FBLN5 Q9UBX5 fibulin 5 Calcium-binding protein 1.00 0.546 0.692
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
HSPB8 Q9UJY1 heat shock protein family B (small) member 8 4.3E-02 0.570 0.577
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
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MFN2 O95140 mitofusin 2 Enzyme 0.99 0.471 0.846
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
NAGA P17050 alpha-N-acetylgalactosaminidase 1.8E-11 0.647 0.538
NEFL P07196 neurofilament light 0.488 0.769
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769