Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
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
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654