Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| CACNA1A | O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 1.00 | 0.489 | 0.769 |
| ERCC8 | Q13216 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 2.8E-15 | 0.551 | 0.885 | |
| GJB2 | P29033 | gap junction protein beta 2 | Cell-cell junction | 6.6E-16 | 0.441 | 0.846 |
| IQSEC2 | Q5JU85 | IQ motif and Sec7 domain ArfGEF 2 | 1.00 | 0.573 | 0.577 | |
| KCNMA1 | Q12791 | potassium calcium-activated channel subfamily M alpha 1 | Ion channel | 1.00 | 0.518 | 0.846 |
| KCNMA1-AS1 | KCNMA1 antisense RNA 1 | 0.705 | 0.654 | |||
| 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 |
| PUF60 | Q9UHX1 | poly(U) binding splicing factor 60 | 1.00 | 0.536 | 0.769 | |
| 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 | |||
| SMC3 | Q9UQE7 | structural maintenance of chromosomes 3 | 1.00 | 0.535 | 0.846 | |
| SPG11 | Q96JI7 | SPG11 vesicle trafficking associated, spatacsin | 1.6E-39 | 0.576 | 0.538 | |
| TCF20 | Q9UGU0 | transcription factor 20 | Transcription factor | 1.00 | 0.644 | 0.423 |
| TPP1 | O14773 | tripeptidyl peptidase 1 | Enzyme | 6.3E-07 | 0.551 | 0.808 |