Annotation Detail
Information
- Associated Genes
- NDUFA2
- Associated Variants
-
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G)
(
ENST00000355622.8,
ENST00000394487.5,
ENST00000472304.2 )
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- Inflammatory Bowel Diseases
- Source Database
- DisGeNET
- Description
- The c.1-260C>T promoter variant of CD14 but not the c.896A>G (p.D299G) variant of toll-like receptor 4 (TLR4) genes is associated with inflammatory bowel disease.
- Pubmed
- 18174680
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2007
Drugs