Disease: Severe muscular hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
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
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
B4GAT1 O43505 beta-1,4-glucuronyltransferase 1 6.9E-03 0.590 0.538
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CARS2 Q9HA77 cysteinyl-tRNA synthetase 2, mitochondrial Enzyme 9.6E-08 0.700 0.423
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
FKTN O75072 fukutin 8.7E-07 0.511 0.692
IBA57 Q5T440 iron-sulfur cluster assembly factor IBA57 8.4E-03 0.666 0.423
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
KIF1A Q12756 kinesin family member 1A Cellular structure 1.00 0.559 0.692
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654
LMNA P02545 lamin A/C 1.00 0.384 0.885
MPZ P25189 myelin protein zero 0.27 0.503 0.846
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
MYL1 P05976 myosin light chain 1 Calcium-binding protein 1.3E-04 0.839 0.346
NEB P20929 nebulin 4.6E-41 0.608 0.692
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769
PEX11B O96011 peroxisomal biogenesis factor 11 beta 1.3E-04 0.612 0.654
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654
PEX3 P56589 peroxisomal biogenesis factor 3 1.6E-02 0.595 0.731