Disease: Encephalopathies
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
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
CSNK1E P49674 casein kinase 1 epsilon 1.00 0.619 0.615
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
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
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
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
HIBCH Q6NVY1 3-hydroxyisobutyryl-CoA hydrolase Enzyme 2.6E-13 0.700 0.500
IFNG P01579 interferon gamma 0.47 0.288 0.962
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KCNT1 Q5JUK3 potassium sodium-activated channel subfamily T member 1 Ion channel 2.8E-05 0.610 0.308
KCNT2 Q6UVM3 potassium sodium-activated channel subfamily T member 2 4.2E-02 0.711 0.308
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846