Annotation Detail

Information
Associated Genes
SERPING1
Associated Variants
SERPING1 MUTATION
SERPING1 MUTATION
Associated Disease
pelvic inflammatory disease
Source Database
DisGeNET
Description
However, since the first identification of autosomal recessive (AR), X-linked recessive (XR) and AD PID-causing genes in 1985 (ADA; severe combined immunodeficiency), 1986 (CYBB, chronic granulomatous disease) and 1989 (SERPING1; hereditary angioedema), respectively, the number of genetically defined AD PIDs has increased more rapidly than that of any other type of PID.
Pubmed
25645939
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
3
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs