GJB3 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

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
Autosomal Dominant Nonsyndromic Hearing Loss 2B	disputed germline	mechanism: Heterozygous GJB3 Variant
Erythrokeratodermia Variabilis	causative	mechanism: Connexin Mislocalization subtype: EKVP1 scoped to subtype: EKVP1

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
erythrokeratodermia variabilis MONDO:0017851	AD	Definitive 2023-06-01	Erythrokeratodermia Variabilis causative
nonsyndromic genetic hearing loss MONDO:0019497	AD	Disputed 2018-02-27	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.