Disease: Seizures, Focal
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ABCB1 P08183 ATP binding cassette subfamily B member 1 Transporter 1.3E-05 0.344 0.885
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CRH P06850 corticotropin releasing hormone Signaling 0.72 0.439 0.808
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NGF P01138 nerve growth factor Signaling 0.82 0.391 0.885
PLCB1 Q9NQ66 phospholipase C beta 1 Enzyme 0.98 0.595 0.654
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
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
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
TBC1D24 Q9ULP9 TBC1 domain family member 24 Enzyme modulator 1.3E-08 0.530 0.808
TSC1 Q92574 TSC complex subunit 1 1.00 0.440 0.808
TSC2 P49815 TSC complex subunit 2 Enzyme modulator 1.00 0.439 0.808
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423