Annotation Detail

Information
Associated Genes
SERPING1
Associated Variants
SERPING1 MUTATION
SERPING1 MUTATION
Associated Disease
Angioedemas, Hereditary
Source Database
DisGeNET
Description
The FXII-HAE is associated with modifiers, for example kinin catabolism enzymes, ACE and CPN, different from those recognized in HAE with C1Inh deficiency.
Pubmed
25134986
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree,CTD_human,LHGDN
DisGENET score for the Gene Disease association
0.162636236959936
Drugs