Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
TCF4 P15884 transcription factor 4 Transcription factor 1.00 0.464 0.846
SLC2A1 P11166 solute carrier family 2 member 1 Transporter 0.99 0.388 0.808
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
RAI1 Q7Z5J4 retinoic acid induced 1 Transcription factor 1.00 0.545 0.731
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
KMT2E Q8IZD2 lysine methyltransferase 2E 1.00 0.682 0.423
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
KDM5C P41229 lysine demethylase 5C 1.00 0.581 0.538
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
SHANK3 Q9BYB0 SH3 and multiple ankyrin repeat domains 3 1.00 0.550 0.731
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
PQBP1 O60828 polyglutamine binding protein 1 Transcription factor 0.79 0.570 0.654
NLGN3 Q9NZ94 neuroligin 3 0.98 0.653 0.462
HCFC1 P51610 host cell factor C1 1.00 0.601 0.692
AQP4-AS1 AQP4 antisense RNA 1 0.751 0.577
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885
PHF8 Q9UPP1 PHD finger protein 8 1.00 0.631 0.577
GRIA4 P48058 glutamate ionotropic receptor AMPA type subunit 4 Ion channel 1.8E-02 0.631 0.615