Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| NPHP3-ACAD11 | NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 | |||
| PIGQ | Q9BRB3 | phosphatidylinositol glycan anchor biosynthesis class Q | Enzyme | 1.4E-06 | 0.610 | 0.577 |
| PLA2G6 | O60733 | phospholipase A2 group VI | Enzyme modulator | 2.5E-10 | 0.476 | 0.846 |
| PTCH1 | Q13635 | patched 1 | 1.00 | 0.398 | 0.885 | |
| UBA5 | Q9GZZ9 | ubiquitin like modifier activating enzyme 5 | Enzyme | 2.5E-04 | 0.582 | 0.731 |