Annotation Detail

Information
Associated Genes
IL1RN
Associated Variants
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
Associated Disease
Respiratory Distress Syndrome, Adult
Source Database
DisGeNET
Description
We hypothesized that a synonymous coding variant in the IL-1 receptor antagonist gene (IL1RN), rs315952, previously associated with reduced risk for acute respiratory distress syndrome, would be functional and associate with improved survival in septic shock.
Pubmed
25089931
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0831813575948429
Year of publication
2014
Drugs