Annotation Detail

Information
Associated Genes
RBM45
Associated Variants
RBM45 MUTATION
RBM45 MUTATION
Associated Disease
birdshot chorioretinopathy
Source Database
DisGeNET
Description
Genes encoding for human leukocyte antigens (HLAs) have been shown to be associated with certain uveitis entities, including BD (HLA-B51), VKH syndrome (HLA-DR4, DRB1/DQA1), AAU (HLA-B27), and BCR (HLA-A29).
Pubmed
26310161
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