Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
NACC1 Q96RE7 nucleus accumbens associated 1 1.00 0.610 0.577
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
CHD2 O14647 chromodomain helicase DNA binding protein 2 1.00 0.585 0.577
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
ADGRG1 Q9Y653 adhesion G protein-coupled receptor G1 G-protein coupled receptor 5.3E-10 0.590 0.654
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
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