Previous symbols: SCCD. Aliases: TERE1.
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 |
|---|---|---|
| Schnyder Corneal Dystrophy | causative germline gain of function |
mechanism: UBIAD1 Missense Variant
animal model: Ubiad1 G184R/+ knock-in mouse; Ubiad1 N100S knock-in mouse
|
| Stromal Corneal Dystrophy | causative |
mechanism: UBIAD1 Corneal Cholesterol Accumulation
subtype: SCCD
scoped to subtype: SCCD
|
| Corneal Dystrophy | no genetic record |
mechanism: Layer-Restricted Corneal Deposition or Cellular Failure
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.