| Disease ID | Source | Name | Description |
| 103470 | OMIM | Waardenburg syndrome 2, with ocular albinism, autosomal recessive (WS2-OA) | A disorder characterized by the association of features typical of Waardenburg syndrome type 2 with ocular albinism. Patients manifest reduced visual acuity, albinotic fundus, deafness, hypomelanosis. The disease is caused by variants affecting the gene represented in this entry. |
| 103500 | OMIM | Tietz albinism-deafness syndrome (TADS) | An autosomal dominant disorder characterized by generalized hypopigmentation and congenital, bilateral, profound sensorineural deafness. The disease is caused by variants affecting the gene represented in this entry. |
| 193510 | OMIM | Waardenburg syndrome 2A (WS2A) | WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. The disease is caused by variants affecting the gene represented in this entry. |
| 617306 | OMIM | Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) | An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis. The disease is caused by variants affecting the gene represented in this entry. An allelic combination involving at least one dominant-negative mutation, inherited in a recessive manner, represents the underlying molecular mechanism leading to COMMAD syndrome. |
| 614456 | OMIM | Melanoma, cutaneous malignant 8 (CMM8) | A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. Disease susceptibility is associated with variants affecting the gene represented in this entry. |