Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| ANKRD11 | Q6UB99 | ankyrin repeat domain 11 | 1.00 | 0.556 | 0.808 | |
| ARID1B | Q8NFD5 | AT-rich interaction domain 1B | 1.00 | 0.503 | 0.846 | |
| ASXL1 | Q8IXJ9 | ASXL transcriptional regulator 1 | 1.3E-14 | 0.482 | 0.808 | |
| ASXL2 | Q76L83 | ASXL transcriptional regulator 2 | 1.00 | 0.617 | 0.692 | |
| CDK13 | Q14004 | cyclin dependent kinase 13 | Kinase | 0.91 | 0.606 | 0.692 |
| DDX3X | O00571 | DEAD-box helicase 3 X-linked | 1.00 | 0.537 | 0.769 | |
| DYRK1A | Q13627 | dual specificity tyrosine phosphorylation regulated kinase 1A | Kinase | 1.00 | 0.533 | 0.769 |
| KMT2A | Q03164 | lysine methyltransferase 2A | 1.00 | 0.410 | 0.885 | |
| LZTR1 | Q8N653 | leucine zipper like transcription regulator 1 | 1.0E-92 | 0.547 | 0.808 | |
| NF1 | P21359 | neurofibromin 1 | Enzyme modulator | 0.90 | 0.440 | 0.885 |
| NSD1 | Q96L73 | nuclear receptor binding SET domain protein 1 | Epigenetic regulator | 1.00 | 0.505 | 0.769 |
| PHIP | Q8WWQ0 | pleckstrin homology domain interacting protein | Epigenetic regulator | 1.00 | 0.595 | 0.769 |
| POGZ | Q7Z3K3 | pogo transposable element derived with ZNF domain | Transcription factor | 1.00 | 0.599 | 0.577 |
| RIT1 | Q92963 | Ras like without CAAX 1 | Enzyme modulator | 0.13 | 0.527 | 0.808 |
| RPS6KA3 | P51812 | ribosomal protein S6 kinase A3 | Kinase | 1.00 | 0.491 | 0.846 |
| SCN1A | P35498 | sodium voltage-gated channel alpha subunit 1 | Ion channel | 1.00 | 0.477 | 0.808 |
| SCN1A-AS1 | SCN1A and SCN9A antisense RNA 1 | 0.636 | 0.346 |