Annotation Detail
Information
- Associated Genes
- COL3A1
- Associated Variants
-
COL3A1 MUTATION
COL3A1 MUTATION - Associated Disease
- Aneurysm of ascending aorta
- Source Database
- DisGeNET
- Description
- Mutations in COL3A1 have been identified to underlie this disease; however, to the best of our knowledge, no COL3A1 mutations have been reported in Ehlers-Danlos syndrome type IV patients with an ascending aortic aneurysm.
- Pubmed
- 25776230
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs