Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 p.Thr17Ala (p.T17A)
(
ENST00000295854.10,
ENST00000487393.1,
ENST00000648405.2,
ENST00000696049.1,
ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ala (p.T17A) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 )
CTLA4 p.Thr17Ser (p.T17S) ( ENST00000295854.10, ENST00000487393.1, ENST00000648405.2, ENST00000696049.1, ENST00000696479.1 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- The cytotoxic T lymphocyte-associated antigen (CTLA)-4 molecule plays an important role in immune regulation by downregulating T-cell activation, and the CTLA-4 49A/G polymorphism in the exon 1 has been shown to be associated with a number of autoimmune diseases.
- Pubmed
- 16045690
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0638536483755694
- Year of publication
- 2005
Drugs