Annotation Detail
Information
- Associated Genes
- HSPA4
- Associated Variants
-
BPI p.Val178= (p.V178=)
(
ENST00000262865.9,
ENST00000642449.2 )
LBP p.Phe436Leu (p.F436L) ( ENST00000217407.3 )
HSPA1L p.Thr493Met (p.T493M) ( ENST00000375654.5 )
IL6 c.-84-153C>G ( ENST00000404625.5 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
BPI p.Val178= (p.V178=) ( ENST00000262865.9, ENST00000642449.2 )
LBP p.Phe436Leu (p.F436L) ( ENST00000217407.3 )
HSPA1L p.Thr493Met (p.T493M) ( ENST00000375654.5 )
IL6 c.-84-153C>G ( ENST00000404625.5 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- Organ dysfunction syndrome
- Source Database
- DisGeNET
- Description
- We evaluated the role of single nucleotide polymorphisms for five genes: bactericidal permeability increasing protein (BPI; rs5743507), lipopolysaccharide-binding protein (LBP; rs2232618), toll-like receptor 4 (TLR4; rs4986790), heat shock protein 70 (HSP 70; rs2227956), and interleukin 6 (IL-6; rs1800795) in 598 children aged 0 to 19 years that were admitted to a paediatric intensive care unit with fever, systemic inflammatory response syndrome, sepsis, severe sepsis, septic shock, or multiple organ dysfunction syndrome.
- Pubmed
- 24383711
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs