Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PIGG Q5H8A4 phosphatidylinositol glycan anchor biosynthesis class G 5.4E-15 0.792 0.231
RSRC2 Q7L4I2 arginine and serine rich coiled-coil 2 1.00 0.769 0.308
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
MAST1 Q9Y2H9 microtubule associated serine/threonine kinase 1 Kinase 1.00 0.711 0.385
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
GRIK4 Q16099 glutamate ionotropic receptor kainate type subunit 4 Ion channel 0.11 0.678 0.423
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
NLGN3 Q9NZ94 neuroligin 3 0.98 0.653 0.462
CNTN6 Q9UQ52 contactin 6 Receptor 9.0E-31 0.678 0.462
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
RALA P11233 RAS like proto-oncogene A Enzyme modulator 0.97 0.656 0.577
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
ZMIZ1 Q9ULJ6 zinc finger MIZ-type containing 1 1.00 0.588 0.615
HOOK2 Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 4.6E-18 0.659 0.654
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692
SIN3A Q96ST3 SIN3 transcription regulator family member A Enzyme 1.00 0.551 0.692