TGFB3

transforming growth factor beta 3

4 disorders 1 unknown 1 untyped 1 no genetic record 1 causative 14q24.3 gene with protein product

HGNC:11769 Monarch NCBI Gene 7043 ENSG00000119699 UniProt P10600 OMIM 190230

Previous symbols: ARVD1, ARVD.

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
arrhythmogenic right ventricular cardiomyopathy	unknown germline
Rienhoff Syndrome	causative germline partial loss of function	mechanism: TGFB3 Ligand Variant animal model: Mouse (Mus musculus)
Cleft Lip/Palate	untyped Risk Factor
Loeys-Dietz Syndrome	no genetic record	mechanism: Paradoxical TGF-beta Signaling subtype: Loeys-Dietz Syndrome Type 5

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
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Limited 2019-08-16	arrhythmogenic right ventricular cardiomyopathy unknown

Mechanism modules · computed from kb/

aortopathy_tgfbeta_dysregulation via Loeys-Dietz Syndrome

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