Annotation Detail

Information
Associated Genes
SERPING1
Associated Variants
SERPING1 MUTATION
SERPING1 MUTATION
Associated Disease
urticaria
Source Database
DisGeNET
Description
Diagnosis of C1-INH-HAE was based on family and/or personal history of recurrent angioedema without urticaria and on antigenic and/or functional C1-INH deficiency.
Pubmed
25758562
Section of the abstract supporting the evidence
METHODS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
4
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Drugs