Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CAMK2G Q13555 calcium/calmodulin dependent protein kinase II gamma Kinase 1.00 0.670 0.462
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GRIA3 P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 1.00 0.566 0.692
GRIN2B Q13224 glutamate ionotropic receptor NMDA type subunit 2B Ion channel 1.00 0.510 0.692
HERC2 O95714 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.00 0.568 0.692
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KCNH1 O95259 potassium voltage-gated channel subfamily H member 1 Ion channel 0.55 0.542 0.731
MED25 Q71SY5 mediator complex subunit 25 Transcription factor 8.4E-07 0.582 0.654
MEF2C Q06413 myocyte enhancer factor 2C Transcription factor 1.7E-02 0.517 0.769
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885
NAGLU P54802 N-acetyl-alpha-glucosaminidase 1.4E-08 0.546 0.769
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615