Annotation Detail
Information
- Associated Genes
- HLA-E
- Associated Variants
-
HLA-E MUTATION
HLA-E MUTATION - Associated Disease
- hypoplastic left heart syndrome
- Source Database
- DisGeNET
- Description
- Unique to those in the D-HLHS group was increased β-MHC and decreased α-MHC protein expression (MHC isoform switching), increased adenylyl cyclase 5 expression, and increased phosphorylation of the CaMK target site on phospholamban, threonine 17.
- Pubmed
- 24793904
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs