Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
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
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ERCC8 Q13216 ERCC excision repair 8, CSA ubiquitin ligase complex subunit 2.8E-15 0.551 0.885
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
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654