Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Leu55Val (p.L55V)
(
ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 )
PON1 p.Leu55Val (p.L55V) ( ENST00000222381.8 )
PON1 p.Leu55= (p.L55=) ( ENST00000222381.8 )
PON1 p.Leu55? (p.L55?) ( ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 ) - Associated Disease
- Coronary heart disease
- Source Database
- DisGeNET
- Description
- PON1 M/L55 mutation protects high-risk patients against coronary artery disease.
- Pubmed
- 14996478
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.192914426545922
- Year of publication
- 2004
Drugs