SCNN1A - 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
Bronchiectasis	untyped Rare ENaC-altering variants may increase susceptibility to bronchiectasis; they are not established as a common monogenic cause.	mechanism: Impaired Mucociliary Clearance
Liddle syndrome	untyped Causal gain-of-function variant	mechanism: ENaC gain of function in distal nephron

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
pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:0009917	AR	Strong 2021-11-18	no dismech entry

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