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 |
|---|---|---|
| Bethlem myopathy | causative germline |
mechanism: Collagen VI alpha-chain gene defects
subtype: BTHLM1B
|
| Ullrich congenital muscular dystrophy | causative germline |
mechanism: Collagen VI and XII gene defects
subtype: UCMD1B
scoped to subtype: UCMD1B
|
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 |
|---|---|---|---|
| collagen 6-related myopathy MONDO:0100225 | AD | Definitive 2022-06-27 |
no dismech entry |
| collagen 6-related myopathy MONDO:0100225 | AR | Definitive 2022-06-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.