Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION - Associated Disease
- Loeys-Dietz syndrome
- Source Database
- DisGeNET
- Description
- Total serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic valve disease (BAVD).
- Pubmed
- 25113270
- Section of the abstract supporting the evidence
- BACKGROUND
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs