Annotation Detail

Information
Associated Genes
IFIH1
Associated Variants
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 )
Associated Disease
Autoimmune Diseases
Source Database
DisGeNET
Description
We confirm a significant contribution of the Ala946Thr IFIH1 polymorphism to organ-specific autoimmune diseases, extending the range of conditions associated with this variant to include Graves' disease.
Pubmed
17535987
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0104442747925546
Year of publication
2007
Drugs