Annotation Detail
Information
- Associated Genes
- HLA-E
- Associated Variants
-
HLA-E MUTATION
HLA-E MUTATION - Associated Disease
- myopathy
- Source Database
- DisGeNET
- Description
- A mild line of MHC-CELFΔ mice that expresses a lower level of the dominant negative protein exhibits cardiac dysfunction and myopathy at a young age, but spontaneously recovers normal cardiac function and heart size with age despite the persistence of splicing defects.
- Pubmed
- 25894229
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
Drugs