Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| ACTL6B | O94805 | actin like 6B | Cellular structure | 2.8E-04 | 0.656 | 0.462 |
| ANKRD11 | Q6UB99 | ankyrin repeat domain 11 | 1.00 | 0.556 | 0.808 | |
| ANTXR2 | P58335 | ANTXR cell adhesion molecule 2 | Receptor | 8.7E-02 | 0.568 | 0.808 |
| ARID1B | Q8NFD5 | AT-rich interaction domain 1B | 1.00 | 0.503 | 0.846 | |
| CAMK2B | Q13554 | calcium/calmodulin dependent protein kinase II beta | Kinase | 0.74 | 0.626 | 0.538 |
| CDK13 | Q14004 | cyclin dependent kinase 13 | Kinase | 0.91 | 0.606 | 0.692 |
| DHX30 | Q7L2E3 | DExH-box helicase 30 | Enzyme | 1.00 | 0.722 | 0.500 |
| DYRK1A | Q13627 | dual specificity tyrosine phosphorylation regulated kinase 1A | Kinase | 1.00 | 0.533 | 0.769 |
| ERCC8 | Q13216 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | 2.8E-15 | 0.551 | 0.885 | |
| FOXG1 | P55316 | forkhead box G1 | 0.94 | 0.522 | 0.692 | |
| GNB1 | P62873 | G protein subunit beta 1 | Enzyme | 1.00 | 0.617 | 0.731 |
| IRF2BPL | Q9H1B7 | interferon regulatory factor 2 binding protein like | 0.84 | 0.631 | 0.462 | |
| KMT2A | Q03164 | lysine methyltransferase 2A | 1.00 | 0.410 | 0.885 | |
| NPHP3-ACAD11 | NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 | |||
| PHIP | Q8WWQ0 | pleckstrin homology domain interacting protein | Epigenetic regulator | 1.00 | 0.595 | 0.769 |
| PRR12 | Q9ULL5 | proline rich 12 | 1.00 | 0.716 | 0.385 | |
| STAT1 | P42224 | signal transducer and activator of transcription 1 | Nucleic acid binding | 1.00 | 0.399 | 0.885 |
| TCF20 | Q9UGU0 | transcription factor 20 | Transcription factor | 1.00 | 0.644 | 0.423 |
| TRIP12 | Q14669 | thyroid hormone receptor interactor 12 | 1.00 | 0.678 | 0.462 | |
| UBA5 | Q9GZZ9 | ubiquitin like modifier activating enzyme 5 | Enzyme | 2.5E-04 | 0.582 | 0.731 |