Annotation Detail
Information
- Associated Genes
- TLR9
- Associated Variants
-
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I)
(
ENST00000355622.8,
ENST00000394487.5,
ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- PHOTOPAROXYSMAL RESPONSE 1
- Source Database
- DisGeNET
- Description
- TLR 4 T399I and TLR9 -1486 T>C showed a positive association with seizures and photosensitivity, respectively.
- Pubmed
- 25182168
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs