Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Arg145Trp (p.R145W)
(
ENST00000344887.10,
ENST00000588882.1,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Arg145Gly (p.R145G) ( ENST00000588882.1, ENST00000344887.10, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Arg145Trp (p.R145W) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 )
TNNI3 p.Arg145Gly (p.R145G) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- restrictive cardiomyopathy
- Source Database
- DisGeNET
- Description
- Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.
- Pubmed
- 19651143
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.253525943298887
- Year of publication
- 2009
Drugs