Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
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
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
UNC80 Q8N2C7 unc-80 homolog, NALCN channel complex subunit 5.2E-02 0.626 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 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
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
WAC Q9BTA9 WW domain containing adaptor with coiled-coil 1.00 0.686 0.615
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769