Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
SOX5 P35711 SRY-box transcription factor 5 1.00 0.545 0.769
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769