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
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
FLNA P21333 filamin A 1.00 0.419 0.846
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
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
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577