Annotation Detail
Information
- Associated Genes
- MBL2
- Associated Variants
-
MBL2 p.Gly57Glu (p.G57E)
(
ENST00000675947.1,
ENST00000674931.1,
ENST00000373968.3 )
MBL2 p.Gly54Asp (p.G54D) ( ENST00000674931.1, ENST00000373968.3, ENST00000675947.1 )
MBL2 p.Arg52Cys (p.R52C) ( ENST00000675947.1, ENST00000373968.3, ENST00000674931.1 )
MBL2 c.-24-266C>G ( ENST00000674931.1, ENST00000675947.1 )
MBL2 p.Gly57Glu (p.G57E) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 )
MBL2 p.Gly54Asp (p.G54D) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 )
MBL2 p.Arg52Cys (p.R52C) ( ENST00000373968.3, ENST00000674931.1, ENST00000675947.1 )
MBL2 c.-24-266C>G ( ENST00000674931.1, ENST00000675947.1 ) - Associated Disease
- Community acquired pneumonia
- Source Database
- DisGeNET
- Description
- We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs1800450, rs1800451, and rs7096206) in 1839 European community-acquired pneumonia (CAP) and peritonitis sepsis cases, and 477 controls from the United Kingdom.
- Pubmed
- 25969530
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2015
Drugs