Previous symbols: COL12A1L.
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 |
|---|---|---|
| Keratoconus | susceptibility | |
| Ullrich congenital muscular dystrophy | causative germline |
mechanism: Collagen VI and XII gene defects
subtype: UCMD2
scoped to subtype: UCMD2
|
| Myopathic Ehlers-Danlos Syndrome | untyped germline dominant negativeloss of function |
mechanism: COL12A1 Biallelic Loss-of-Function; COL12A1 Dominant Variant
subtype: mEDS Dominant; mEDS Recessive
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.