Annotation Detail
Information
- Associated Genes
- LINC01193
- 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
- Juvenile arthritis
- Source Database
- DisGeNET
- Description
- Families of 531 children with JIA were genotyped for SNPs located in the promoter region (C-318T), exon 1 (A49G), and the 3'-untranslated region (CT60) of CTLA4 by polymerase chain reaction amplification and digestion.
- Pubmed
- 18576317
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2008
Drugs