Annotation Detail

Information
Associated Genes
TLR1
Associated Variants
TLR1 MUTATION
TLR1 MUTATION
Associated Disease
Chediak-Higashi syndrome
Source Database
DisGeNET
Description
At baseline, we found CD14, IL1R1 and TLR-1 were down-regulated significantly (≥2 fold change) and the genes encoding TLR-3, IL-1β and IL-6 were up-regulated in CHS cells compared to control cells.
Pubmed
25528552
Section of the abstract supporting the evidence
METHODS AND RESULTS
Number of the section of the abstract supporting the evidence
2
Number of the sentence supporting the evidence
7
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs