Source: CLINVAR
Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI g | DPI g | Num. diseases | Num. SNPs |
---|---|---|---|---|---|---|---|---|
NPHP3-ACAD11 | NPHP3-ACAD11 readthrough (NMD candidate) | 0.663 | 0.577 | 69 | 37 | |||
UBA5 | Q9GZZ9 | ubiquitin like modifier activating enzyme 5 | Enzyme | 2.5E-04 | 0.582 | 0.731 | 62 | 13 |