Disease: Epileptic encephalopathy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
FOLR1 P15328 folate receptor alpha 0.13 0.522 0.885
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
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
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
HCN1 O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.00 0.564 0.654
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538
GRIN2A Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 1.00 0.522 0.808
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
FLNA P21333 filamin A 1.00 0.419 0.846
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692