Annotation Detail
Information
- Associated Genes
- SERPING1
- Associated Variants
-
SERPING1 MUTATION
SERPING1 MUTATION - Associated Disease
- Angioedemas, Hereditary
- Source Database
- DisGeNET
- Description
- HAE type I occurred in 99 patients (57.9%), HAE type II occurred in 9 patients (5.3%), HAE with normal C1-INH occurred in 3 patients (1.8%), and an additional 60 patients were unclassified.
- Pubmed
- 25872948
- 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
- 7
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.162636236959936
Drugs