Annotation Detail

Information
Associated Genes
BPI
Associated Variants
BPI p.Ala12Val (p.A12V) ( ENST00000262865.9, ENST00000642449.2 )
TNF c.-488G>A
BPI p.Ala12Val (p.A12V) ( ENST00000262865.9, ENST00000642449.2 )
TNF c.-488G>A
Associated Disease
Septicaemia due to gram-negative organism, unspecified
Source Database
DisGeNET
Description
Genotype AG of rs1800629 (the LTA gene) and genotypes CC and CT of rs1341023 (the BPI gene) were associated with a significantly increased risk of developing Gram-negative sepsis (p = 0.04, p = 0.04 and p = 0.03).
Pubmed
25000179
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs