Previous symbols: DFN3. Aliases: BRN4, OTF9, DFNX2.
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 |
|---|---|---|
| Choroideremia-Deafness-Obesity Syndrome | causative | |
| X-linked Nonsyndromic Hearing Loss | causative |
mechanism: POU3F4-related inner ear developmental malformation
subtype: DFNX2
scoped to subtype: DFNX2
|
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 | XL | Definitive 2018-01-05 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.