Annotation Detail
Information
- Associated Genes
- TNNC1
- Associated Variants
-
TNNC1 p.Gly159Asp (p.G159D)
(
ENST00000232975.8 )
TNNC1 p.Gly159Asp (p.G159D) ( ENST00000232975.8 ) - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- We investigated the effect of the dilated cardiomyopathy linked cTnC Gly159 to Asp (cTnC-G159D) mutation on the development of Ca(2+)-dependent tension and ATPase rate in whole troponin-exchanged skinned rat trabeculae.
- Pubmed
- 17446435
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133254501426807
- Year of publication
- 2007
Drugs