Annotation Detail
Information
- Associated Genes
- SERPING1
- Associated Variants
-
SERPING1 MUTATION
SERPING1 MUTATION - Associated Disease
- Abdominal Pain
- Source Database
- DisGeNET
- Description
- We report for the first time in Brazil a mutation in the F12 gene as a likely cause of HAE with normal C1-INH in patients with recurrent attacks of angioedema and/or abdominal pain.
- Pubmed
- 25790805
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 4
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs