Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
ZNF292 O60281 zinc finger protein 292 Enzyme 1.00 0.695 0.423
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
GABRA1 P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 0.91 0.563 0.577
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
ATP7B P35670 ATPase copper transporting beta Transporter 4.8E-30 0.529 0.654
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
SPTAN1 Q13813 spectrin alpha, non-erythrocytic 1 1.00 0.601 0.615
HNRNPU Q00839 heterogeneous nuclear ribonucleoprotein U 1.00 0.575 0.654
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
CDK2AP1 O14519 cyclin dependent kinase 2 associated protein 1 Enzyme modulator 0.45 0.656 0.538