Previous symbols: ODDD, GJAL. Aliases: CX43, ODD, ODOD, SDTY3.
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 |
|---|---|---|
| Craniometaphyseal Dysplasia | causative |
mechanism: Connexin 43 Gap Junction Dysfunction
subtype: AR-CMD
scoped to subtype: AR-CMD
|
| Erythrokeratodermia Variabilis | causative |
mechanism: Connexin Mislocalization
subtype: EKVP3
scoped to subtype: EKVP3
|
| Oculodentodigital Dysplasia |
untyped
Causative
|
mechanism: Dominant-negative GJA1 mutations disrupt gap junction communication; Loss-of-function mechanism in autosomal recessive ODDD
|
| Palmoplantar Keratoderma-Deafness Syndrome | no genetic record |
mechanism: Trans-Dominant Inhibition of Epidermal Connexin 43
|
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 |
|---|---|---|---|
| congenital heart disease MONDO:0005453 | UD | Limited 2024-06-04 |
Congenital Heart Disease
not named
|
| nonsyndromic genetic hearing loss MONDO:0019497 | AD | Disputed 2022-03-16 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.