Annotation Detail
Information
- Associated Genes
- SERPING1
- Associated Variants
-
SERPING1 MUTATION
SERPING1 MUTATION - Associated Disease
- Angioedemas, Hereditary
- Source Database
- DisGeNET
- Description
- The C1-inh polymers might play a role in the pathophysiology of HAE, but several diseases are characterized by the presence of serpin polymers.
- Pubmed
- 25800206
- Section of the abstract supporting the evidence
- GENERAL SIGNIFICANCE
- Number of the section of the abstract supporting the evidence
- 5
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.162636236959936
Drugs