Annotation Detail
Information
- Associated Genes
- HLA-E
- Associated Variants
-
HLA-E MUTATION
HLA-E MUTATION - Associated Disease
- Cardiomyopathy, Dilated
- Source Database
- DisGeNET
- Description
- Repression of CELF-mediated splicing activity via expression of a nuclear dominant negative CELF protein in heart muscle was previously shown to induce dysregulation of alternative splicing, cardiac dysfunction, cardiac hypertrophy, and dilated cardiomyopathy in MHC-CELFΔ transgenic mice.
- Pubmed
- 25894229
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs