Annotation Detail
Information
- Associated Genes
- CD40
- Associated Variants
-
CD40 p.Met1= (p.M1=)
(
ENST00000372276.7,
ENST00000372285.8,
ENST00000695671.1 )
CD40 p.Met1= (p.M1=) ( ENST00000372276.7, ENST00000372285.8, ENST00000695671.1 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- A functional polymorphism (-1C>T, rs1883832) in the 5' untranslated region of TNFRSF5 gene has been reported to affect CD40 expression and be associated with several chronic inflammatory and autoimmune diseases.
- Pubmed
- 21091218
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00671010193188688
- Year of publication
- 2011
Drugs