Disease: Absent speech
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
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
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
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
KCNQ2 O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 1.00 0.537 0.654
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
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