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
Familial Thoracic Aortic Aneurysm and Aortic Dissection causative germline
mechanism: TGF-beta signaling dysregulation
Loeys-Dietz Syndrome 4 causative germline
mechanism: TGFB2 Loss-of-Function Variant
Kawasaki Disease untyped
TGF-β signaling involved in chronic vascular remodeling
mechanism: Vascular Inflammation
Loeys-Dietz Syndrome no genetic record
mechanism: Paradoxical TGF-beta Signaling
subtype: Loeys-Dietz Syndrome Type 4
Mechanism modules · computed from kb/

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