Annotation Detail
Information
- Associated Genes
- SLC3A2
- Associated Variants
-
TNNI3 p.Gly203Ser (p.G203S)
(
ENST00000344887.10,
ENST00000588882.1,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Gly203Ser (p.G203S) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- Hyperlipoproteinemia Type IIa
- Source Database
- DisGeNET
- Description
- This model (designated TnI-203/MHC-403) was generated by crossbreeding mice with the Gly203Ser cardiac troponin I (TnI-203) and Arg403Gln alpha-myosin heavy chain (MHC-403) FHC-causing mutations.
- Pubmed
- 18362229
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00488595369744546
- Year of publication
- 2008
Drugs