Annotation Detail
Information
- Associated Genes
- THBS4
- Associated Variants
-
THBS4 p.Ala387Pro (p.A387P)
(
ENST00000350881.6,
ENST00000511733.1 )
THBS4 p.Ala387Pro (p.A387P) ( ENST00000350881.6, ENST00000511733.1 ) - Associated Disease
- arteriosclerosis
- Source Database
- DisGeNET
- Description
- In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombospondin-4 (TSP-4) gene, resulting in a proline-for-alanine substitution at position 387, was associated with a significantly increased risk for premature atherosclerosis.
- Pubmed
- 12952849
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2003
Drugs