Previous symbols: MCDC1.
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: CHST6 Keratan Sulfate Undersulfation
subtype: MCD
scoped to subtype: MCD
|
| Corneal Dystrophy | no genetic record |
mechanism: Layer-Restricted Corneal Deposition or Cellular Failure
|
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 |
|---|---|---|---|
| macular corneal dystrophy MONDO:0009020 | AR | Definitive 2026-02-02 |
Stromal Corneal Dystrophy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.