TBX5 - 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
Atrial Septal Defect	causative germline	mechanism: Abnormal Atrial Septation
Congenital Heart Disease	causative	mechanism: Cardiac Septation Transcription Factor Network Failure scoped to subtype: Septal
Ventricular Septal Defect	causative	mechanism: Cardiac Septation Transcriptional Program Disruption
Congenital Total Pulmonary Venous Return Anomaly	untyped Associated
Holt-Oram syndrome	untyped Causative	mechanism: TBX5 Haploinsufficiency and Enhancer 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 disease	MOI	Classification	dismech entry
Holt-Oram syndrome MONDO:0007732	AD	Definitive 2025-03-25	Holt-Oram syndrome untyped

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