Known Diseases associated with this Protein: | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEAS
| PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG
| SYNDROME, AND HIRSCHSPRUNG DISEASE
| WAARDENBURG SYNDROME 2E (WS2E)
| WAARDENBURG SYNDROME 4C (WS4C)
| WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT
| WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT, INCLUDED
| WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT
| WAARDENBURG SYNDROME, TYPE 4C
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