Annotation Detail
Information
- Associated Genes
- TGFB1
- Associated Variants
-
TGFB1 MUTATION
TGFB1 MUTATION - Associated Disease
- Diseases of mitral valve
- Source Database
- DisGeNET
- Description
- In addition to oligodontia and short stature, both sisters have mitral valve prolapse, suggesting a link between truncating LTBP3 mutations and mitral valve disease mediated through the TGFB pathway.
- Pubmed
- 25899461
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs