| Protein Name | Gene Name | Uniprot ID | Disease Name | References |
|---|---|---|---|---|
| Myelin protein P0 | Mpz | P06907 | Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease | Carenini, S. et al. (J Cell Biol, 2001), Miyamoto, K. et al. (Eur J Immunol, 2003) |