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 | |
| 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 | |
| GRIN2B | Q13224 | glutamate ionotropic receptor NMDA type subunit 2B | Ion channel | 1.00 | 0.510 | 0.692 |
| 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 |
| 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 |
| STXBP1 | P61764 | syntaxin binding protein 1 | Transporter | 1.00 | 0.532 | 0.692 |
| TPO | P07202 | thyroid peroxidase | Enzyme | 1.8E-21 | 0.455 | 0.846 |
| TRIP12 | Q14669 | thyroid hormone receptor interactor 12 | 1.00 | 0.678 | 0.462 |