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
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
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
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
ASXL2 Q76L83 ASXL transcriptional regulator 2 1.00 0.617 0.692
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
PPP2R1A P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 0.98 0.588 0.577
SGSH P51688 N-sulfoglucosamine sulfohydrolase Enzyme 1.0E-04 0.638 0.692
MEFV O15553 MEFV innate immuity regulator, pyrin 1.0E-14 0.440 0.885
TBR1 Q16650 T-box brain transcription factor 1 Transcription factor 1.00 0.666 0.385
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
BRSK2 Q8IWQ3 BR serine/threonine kinase 2 Kinase 0.95 0.700 0.500
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846