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
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect.
Pubmed
12047362
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24781349557279
Year of publication
2002
Drugs