SBDS - 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
Inherited Aplastic Anemia	untyped Ribosome assembly factor deficiency causes impaired 60S ribosomal subunit maturation germline	scoped to subtype: Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome	untyped Causal biallelic variant	mechanism: Biallelic SBDS Loss of Function subtype: SBDS-related; Severe neonatal SMD

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
Shwachman-Diamond syndrome MONDO:0009833	AR	Definitive 2020-07-30	Shwachman-Diamond syndrome untyped

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