Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| ASXL3 | Q9C0F0 | ASXL transcriptional regulator 3 | 1.00 | 0.590 | 0.577 | |
| CACNA1A | O00555 | calcium voltage-gated channel subunit alpha1 A | Ion channel | 1.00 | 0.489 | 0.769 |
| FOXG1 | P55316 | forkhead box G1 | 0.94 | 0.522 | 0.692 | |
| IQSEC2 | Q5JU85 | IQ motif and Sec7 domain ArfGEF 2 | 1.00 | 0.573 | 0.577 | |
| PMM2 | O15305 | phosphomannomutase 2 | Enzyme | 1.4E-17 | 0.535 | 0.769 |
| POMT1 | Q9Y6A1 | protein O-mannosyltransferase 1 | 4.2E-17 | 0.525 | 0.615 | |
| SNX14 | Q9Y5W7 | sorting nexin 14 | Enzyme modulator | 6.1E-17 | 0.659 | 0.423 |