CHD7 - 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
CHARGE syndrome	causative germline	mechanism: CHD7 haploinsufficiency and impaired ATP-dependent chromatin remodeling
Congenital Heart Disease	causative	mechanism: Developmental Gene Dosage Disruption
Double Outlet Right Ventricle	causative germline
Esophageal Atresia	susceptibility
Kallmann Syndrome	causative	mechanism: Defective GnRH neuron and olfactory axon migration subtype: CHD7 scoped to subtype: CHD7

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
CHARGE syndrome MONDO:0008965	AD	Definitive 2026-06-03	CHARGE syndrome causative

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