Previous symbols: DFNA13, DFNB53. Aliases: HKE5.
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 |
|---|---|---|
| COL11A2-Related Hearing Loss | causative |
mechanism: COL11A2 Biallelic Disruption of Tectorial Membrane; Dominant COL11A2 Disruption of Tectorial Membrane
subtype: DFNA13; DFNB53
|
| Fibrochondrogenesis | causative germline |
mechanism: COL11A1/COL11A2 Loss-of-Function
subtype: Type 2
scoped to subtype: Type 2
|
| COL11A2-Related Skeletal Spectrum |
untyped
Causative
|
mechanism: COL11A2 Complete Loss of Function in OSMED; COL11A2 Dominant-Negative Disruption of Type XI Collagen
|
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 |
|---|---|---|---|
| otospondylomegaepiphyseal dysplasia MONDO:0008975 | AD | Definitive 2018-12-20 |
no dismech entry |
| otospondylomegaepiphyseal dysplasia MONDO:0008975 | AR | Definitive 2018-12-20 |
no dismech entry |
| nonsyndromic genetic hearing loss MONDO:0019497 | AD | Definitive 2023-11-15 |
no dismech entry |
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Moderate 2023-11-15 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.