Disease: West Syndrome
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
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
AIMP2 Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 8.0E-03 0.393 0.923
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
CNPY3 Q9BT09 canopy FGF signaling regulator 3 0.40 0.805 0.269
CSNK1E P49674 casein kinase 1 epsilon 1.00 0.619 0.615
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FLNA P21333 filamin A 1.00 0.419 0.846
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
GUF1 Q8N442 GUF1 homolog, GTPase Enzyme 5.3E-18 0.805 0.154
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
MAGI2 Q86UL8 membrane associated guanylate kinase, WW and PDZ domain containing 2 1.00 0.579 0.654
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808