Annotation Detail
Information
- Associated Genes
- SERPING1
- Associated Variants
-
SERPING1 MUTATION
SERPING1 MUTATION - Associated Disease
- Angioedemas, Hereditary
- Source Database
- DisGeNET
- Description
- Hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE type I) or dysfunction (C1-INH-HAE type II) is a rare disease characterized by recurrent episodes of edema with an estimated frequency of 1:50,000 in the global population without racial or gender differences.
- Pubmed
- 25758562
- Section of the abstract supporting the evidence
- INTRODUCTION
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,LHGDN
- DisGENET score for the Gene Disease association
- 0.162636236959936
Drugs