Previous symbols: HXB, DFNA56. Aliases: TN, MGC167029.
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 |
|---|---|---|
| TARP syndrome |
untyped
Splicing target
|
|
| ACAN-Related Short Stature Spectrum | no genetic record |
mechanism: Impaired Matrix Ligand Binding of G3-Domain Variant Aggrecan
|
| Spondyloepimetaphyseal Dysplasia Aggrecan Type | no genetic record |
mechanism: Impaired Calcium-Dependent Binding of the G3 Domain to Tenascin-C
|
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 |
|---|---|---|---|
| nonsyndromic genetic hearing loss MONDO:0019497 | AD | Limited 2022-07-13 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.