Previous symbols: DFNA3, ED2. Aliases: EDH, HED, CX30.
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 |
|---|---|---|
| GJB2-GJB6 Digenic Nonsyndromic Hearing Loss | causative |
mechanism: Loss of Cochlear Connexin Gap-Junction Coupling
|
| Keratitis-Ichthyosis-Deafness Syndrome | causative germline | |
| Clouston Syndrome | untyped |
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 |
|---|---|---|---|
| Clouston syndrome MONDO:0007510 | AD | Definitive 2018-04-17 |
Clouston Syndrome
untyped
|
| nonsyndromic genetic hearing loss MONDO:0019497 | AR | Refuted 2018-04-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.