Previous symbols: MADH3. Aliases: JV15-2, HsT17436.
ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| Agnathia-Otocephaly Complex | unknown |
mechanism: SMAD3 and TGF-beta/BMP Signaling Disruption
|
| Aneurysm-Osteoarthritis Syndrome | causative germline loss of function |
mechanism: Reduced PRRX2-Dependent Aortic Microfibril Expression; SMAD3 Loss-of-Function
|
| Celiac Disease | susceptibility | |
| Familial Thoracic Aortic Aneurysm and Aortic Dissection | causative germline |
mechanism: TGF-beta signaling dysregulation
|
| Melorheostosis | causative somatic |
mechanism: Post-zygotic Somatic Mutation in Skeletal Tissue
|
| Ankylosing Spondylitis |
untyped
GWAS
|
|
| Asthma |
untyped
GWAS
|
|
| Atopic Dermatitis |
untyped
GWAS
|
|
| Crohn Disease |
untyped
GWAS
|
|
| Kawasaki Disease |
untyped
TGF-β signaling mediator involved in vascular remodeling
|
mechanism: Vascular Inflammation
|
| Marfan Syndrome |
untyped
Implicated
|
|
| Psoriasis |
untyped
GWAS
|
|
| Systemic Lupus Erythematosus |
untyped
GWAS
|
|
| Ulcerative Colitis |
untyped
GWAS
|
|
| Loeys-Dietz Syndrome | no genetic record |
mechanism: Paradoxical TGF-beta Signaling
subtype: Loeys-Dietz Syndrome Type 3
|
| Otosclerosis | no genetic record |
mechanism: Dysregulated TGF-beta Signaling in the Otic Capsule
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.