TGFBR1

transforming growth factor beta receptor 1

3 disorders 2 untyped 1 causative 9q22.33 gene with protein product

HGNC:11772 Monarch NCBI Gene 7046 ENSG00000106799 UniProt P36897 OMIM 190181

Previous symbols: MSSE, ESS1. Aliases: ALK-5, ACVRLK4, ALK5, TBRI, TBR-i.

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
Familial Thoracic Aortic Aneurysm and Aortic Dissection	causative germline	mechanism: TGF-beta signaling dysregulation
Loeys-Dietz Syndrome	untyped Pathogenic Variants	mechanism: Paradoxical TGF-beta Signaling subtype: Loeys-Dietz Syndrome Type 1
Marfan Syndrome	untyped Implicated

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
multiple self-healing squamous epithelioma MONDO:0007566	AD	Definitive 2019-12-20	no dismech entry
Loeys-Dietz syndrome MONDO:0018954	AD	Definitive 2019-03-27	Loeys-Dietz Syndrome untyped

Mechanism modules · computed from kb/

aortopathy_tgfbeta_dysregulation via Familial Thoracic Aortic Aneurysm and Aortic Dissection, Loeys-Dietz Syndrome

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