SMARCC1 - 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
Congenital Hydrocephalus	causative de novo	mechanism: Genetic Disruption of Ventricular Zone Neural Stem Cell Fate
SMARCC1-associated Developmental Dysgenesis Syndrome	causative germline loss of function CLINGEN: definitive	mechanism: SMARCC1 Loss-of-Function

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
SMARCC1-associated developmental dysgenesis syndrome MONDO:0700123	AD	Definitive 2023-04-11	SMARCC1-associated Developmental Dysgenesis Syndrome causative

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