NIPBL - 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
Cornelia de Lange syndrome	causative de novogermlinesomatic	mechanism: Cohesin pathway gene disruption; Impaired cohesin loading and chromatin organization
Cornelia de Lange Syndrome 1	causative germline loss of function	mechanism: NIPBL Haploinsufficiency

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
Cornelia de Lange syndrome MONDO:0016033	AD	Definitive 2025-08-11	Cornelia de Lange syndrome causative

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