Disease: Motor delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
AP3B1 O00203 adaptor related protein complex 3 subunit beta 1 Transporter 0.62 0.619 0.808
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846
IARS2 Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 8.1E-02 0.590 0.654
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
ITGA7 Q13683 integrin subunit alpha 7 4.3E-17 0.588 0.654
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
LONP1 P36776 lon peptidase 1, mitochondrial Enzyme 1.00 0.517 0.808
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
MMP13 P45452 matrix metallopeptidase 13 Enzyme 7.9E-18 0.452 0.923
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769