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
- Disorder of eye
- Source Database
- DisGeNET
- Description
- We investigated the distribution of CTLA-4 A49G polymorphism in 264 Caucasian patients with Graves' disease (GD), of which 95 had clinically evident GO (NOSPECS class >or=3) and 319 Japanese patients with GD, of which 99 had ophthalmopathy.
- Pubmed
- 12534352
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2003
Drugs