Disease: Tonic - clonic seizures
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACHE P22303 acetylcholinesterase (Cartwright blood group) Enzyme 1.00 0.445 0.885
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
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
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
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
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GABRD O14764 gamma-aminobutyric acid type A receptor subunit delta Ion channel 0.99 0.558 0.692
GABRG2 P18507 gamma-aminobutyric acid type A receptor subunit gamma2 Ion channel 0.74 0.548 0.654
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
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
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
PVALB P20472 parvalbumin Calcium-binding protein 8.7E-02 0.547 0.692
RPS19 P39019 ribosomal protein S19 Nucleic acid binding 0.92 0.480 0.846
SAMD12 Q8N8I0 sterile alpha motif domain containing 12 1.2E-03 0.700 0.269
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538