Disease: Epileptic encephalopathy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
FLNA P21333 filamin A 1.00 0.419 0.846
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
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
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
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731