SCNN1G - 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	susceptibility	mechanism: Airway Surface Liquid Dehydration
Pseudohypoaldosteronism Type IB3 Autosomal Recessive	causative germline loss of function	mechanism: Biallelic SCNN1G loss of function
Liddle syndrome	untyped Causal gain-of-function variant	mechanism: ENaC gain of function in distal nephron; Reduced ENaC internalization and degradation

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
Liddle syndrome MONDO:0008323	AD	Definitive 2021-06-17	Liddle syndrome untyped

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.