Aliases: OCAIA, OCA1A, OCA1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| MITF Waardenburg-Tietz Spectrum | cooperating germline |
mechanism: Melanocyte Deficiency
|
| Pigment Dispersion Syndrome | susceptibility | |
| Oculocutaneous Albinism |
untyped
Causative
|
mechanism: Melanogenic Enzyme Deficiency
subtype: OCA1A; OCA1B
scoped to subtype: OCA1A, OCA1B
|
| Vitiligo |
untyped
Associated
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| oculocutaneous albinism type 1 MONDO:0018135 | AR | Definitive 2020-08-28 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.