Annotation Detail

Information
Associated Genes
HLA-E
Associated Variants
HLA-E MUTATION
HLA-E MUTATION
Associated Disease
birdshot chorioretinopathy
Source Database
DisGeNET
Description
This study further defined an extremely strong MHC risk component in BSCR, and detected evidence for a novel disease mechanism that affects peptide processing in the endoplasmic reticulum.
Pubmed
24957906
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
8
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs