Disease: Infantile Severe Myoclonic Epilepsy
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
CACNB4 O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 3.1E-02 0.653 0.231
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
EJM2 epilepsy, juvenile myoclonic 2 0.751 0.192
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
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
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SLC12A2 P55011 solute carrier family 12 member 2 Transporter 0.96 0.552 0.808
SLC12A5 Q9H2X9 solute carrier family 12 member 5 Transporter 1.00 0.570 0.654