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 |
|---|---|---|
| Stickler Syndrome Type 4 | causative germline loss of function |
mechanism: COL9A1 Loss of Function
|
| Multiple Epiphyseal Dysplasia |
untyped
Causative
|
mechanism: Mutant Cartilage Matrix Protein Misfolding and ER Retention
subtype: EDM6
scoped to subtype: EDM6
|
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 |
|---|---|---|---|
| Stickler syndrome, type 4 MONDO:0013590 | AR | Definitive 2025-10-08 |
Stickler Syndrome Type 4
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.