Disease: Seizures
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC6 O95255 ATP binding cassette subfamily C member 6 Transporter 5.6E-35 0.540 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG3 Q92685 ALG3 alpha-1,3- mannosyltransferase Enzyme 3.7E-10 0.644 0.500
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
BORCS5 Q969J3 BLOC-1 related complex subunit 5 1.2E-03 0.805 0.192
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CDK20 Q8IZL9 cyclin dependent kinase 20 Kinase 5.9E-14 0.682 0.462
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CIZ1 Q9ULV3 CDKN1A interacting zinc finger protein 1 6.3E-02 0.617 0.500
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769