Disease: Motor delay
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
HACD1 B0YJ81 3-hydroxyacyl-CoA dehydratase 1 1.3E-09 0.539 0.846
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500
AP3B1 O00203 adaptor related protein complex 3 subunit beta 1 Transporter 0.62 0.619 0.808
AGRN O00468 agrin 5.5E-07 0.626 0.538
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
IGF1 P05019 insulin like growth factor 1 0.27 0.318 0.885
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
IGF1R P08069 insulin like growth factor 1 receptor Kinase 0.97 0.399 0.885
MYL2 P10916 myosin light chain 2 Calcium-binding protein 2.7E-08 0.601 0.615
VDR P11473 vitamin D receptor Nuclear receptor 1.7E-05 0.352 0.885
FLNA P21333 filamin A 1.00 0.419 0.846
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769
LONP1 P36776 lon peptidase 1, mitochondrial Enzyme 1.00 0.517 0.808
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
MMP13 P45452 matrix metallopeptidase 13 Enzyme 7.9E-18 0.452 0.923
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769