Annotation Detail
Information
- Associated Genes
- FBN1
- Associated Variants
-
ADAMTS13 p.Gln448Glu (p.Q448E)
(
ENST00000355699.7,
ENST00000356589.6,
ENST00000371916.5,
ENST00000371929.7 )
ADAMTS13 p.Pro618Ala (p.P618A) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Glu (p.A900E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Gly (p.A900G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Val (p.A900V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Gln448Glu (p.Q448E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Pro618Ala (p.P618A) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Glu (p.A900E) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Gly (p.A900G) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 )
ADAMTS13 p.Ala900Val (p.A900V) ( ENST00000355699.7, ENST00000356589.6, ENST00000371916.5, ENST00000371929.7 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphisms: C1342G (Q448E), C1852G (P618A) and C2699T (A900V) in a group of 560 patients enrolled in the Medical, Angioplasty, or Surgery Study II (MASS II), a randomized trial comparing treatments for patients with coronary artery disease (CAD) and preserved left ventricular function.
- Pubmed
- 19427680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00426712508316415
- Year of publication
- 2010
Drugs