Source: CLINVAR ×
| Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
|---|---|---|---|---|---|---|
| ALG8 | Q9BVK2 | ALG8 alpha-1,3-glucosyltransferase | Enzyme | 1.2E-08 | 0.659 | 0.577 |
| COG7 | P83436 | component of oligomeric golgi complex 7 | 2.6E-07 | 0.686 | 0.500 | |
| MAN1B1 | Q9UKM7 | mannosidase alpha class 1B member 1 | Chaperone | 1.2E-08 | 0.606 | 0.577 |
| MPDU1 | O75352 | mannose-P-dolichol utilization defect 1 | 1.0E-05 | 0.682 | 0.500 | |
| PMM2 | O15305 | phosphomannomutase 2 | Enzyme | 1.4E-17 | 0.535 | 0.769 |