Annotation Detail
Information
- Associated Genes
- THBS4
- Associated Variants
-
THBS1 p.Asn700Ser (p.N700S)
(
ENST00000260356.6 )
THBS4 p.Ala387Pro (p.A387P) ( ENST00000350881.6, ENST00000511733.1 )
THBS1 p.Asn700Ser (p.N700S) ( ENST00000260356.6 )
THBS4 p.Ala387Pro (p.A387P) ( ENST00000350881.6, ENST00000511733.1 ) - Associated Disease
- myocardial infarction
- Source Database
- DisGeNET
- Description
- Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI).
- Pubmed
- 12482844
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0132782456451965
- Year of publication
- 2002
Drugs