Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION - Associated Disease
- Marfan syndrome
- Source Database
- DisGeNET
- Description
- In contrast to specific clinical features of MFS, FBN1 in-frame mutations (P = 0.019) were associated with increased tsTGF-β1 levels.
- Pubmed
- 25113270
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.00435300147494899
Drugs