Annotation Detail
Information
- Associated Genes
- SERPING1
- Associated Variants
-
SERPING1 MUTATION
SERPING1 MUTATION - Associated Disease
- hereditary angioedema type I
- Source Database
- DisGeNET
- Description
- SERPING1 mutations causing Hereditary Angioedema type I (HAE-I) due to C1-Inhibitor (C1-INH) deficiency display a dominant-negative effect usually resulting in protein levels far below the expected 50%.
- Pubmed
- 25053016
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.360542883744161
Drugs