HEY1 - 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
Chondrosarcoma	somatic driver somatic	mechanism: HEY1::NCOA2 Fusion Oncogenic Program subtype: Mesenchymal scoped to subtype: Mesenchymal
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	no genetic record	mechanism: Aberrant Cardiac Morphogenesis; Selective Dysregulation of Endogenous NMD-Sensitive and uORF-Containing Transcripts

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
congenital heart disease MONDO:0005453	AD	Disputed 2024-08-06	Congenital Heart Disease not named

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