Previous symbols: CSD3, LCD1, CSD1, CSD2. Aliases: BIGH3, CDB1, CDGG1.
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 |
|---|---|---|
| Stromal Corneal Dystrophy | causative |
mechanism: TGFBI Protein Deposition (Epithelial-Stromal Forms)
subtype: GCD1; GCD2; LCD1
scoped to subtype: GCD1
|
| TGFBI Corneal Dystrophies |
untyped
Pathogenic Variants
|
|
| Corneal Dystrophy | no genetic record |
mechanism: Layer-Restricted Corneal Deposition or Cellular Failure
subtype: Epithelial-Stromal TGFBI
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.