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.

DisorderRelationshipWhere the gene appears
Dermatomyositis untyped
Associated
Sifrim-Hitz-Weiss syndrome untyped
mechanism: CHD4/NuRD chromatin remodeling dysfunction; Impaired NuRD-dependent cortical neurogenesis; NuRD-dependent cardiac transcriptional repression defect
Ewing Sarcoma no genetic record
mechanism: CHD4 Chromatin Architecture Maintenance; NuRD-LSD1 Transcriptional Repression
Holt-Oram syndrome no genetic record
mechanism: Cofactor and Chromatin Remodeling Dysfunction
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 diseaseMOIClassificationdismech entry
syndromic intellectual disability MONDO:0000508 AD Definitive
2023-04-19
no dismech entry

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