Annotation Detail
Information
- Associated Genes
- TLR4
- Associated Variants
-
TLR4 MUTATION
TLR4 MUTATION - Associated Disease
- Chediak-Higashi syndrome
- Source Database
- DisGeNET
- Description
- For the first time, results from our study indicate defective trafficking of TLR-2 and TLR-4 contributes to the hyposensitive response of CHS skin fibroblasts to immunogenic challenge, providing a potential therapeutic target for clinical intervention in CHS.
- Pubmed
- 25528552
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 12
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs