Annotation Detail

Information
Associated Genes
CD247
Associated Variants
CD247 c.59-10421A>C ( ENST00000700108.1, ENST00000700134.1, ENST00000700106.1, ENST00000700105.1, ENST00000362089.10, ENST00000700109.1, ENST00000700158.1, ENST00000700107.1, ENST00000700160.1, ENST00000700165.1, ENST00000700142.1, ENST00000392122.4, ENST00000700159.1 )
CD247 c.59-10421A>C ( ENST00000362089.10, ENST00000392122.4, ENST00000700105.1, ENST00000700106.1, ENST00000700107.1, ENST00000700108.1, ENST00000700109.1, ENST00000700134.1, ENST00000700142.1, ENST00000700158.1, ENST00000700159.1, ENST00000700160.1, ENST00000700165.1 )
Associated Disease
systemic scleroderma
Source Database
DisGeNET
Description
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
Pubmed
21750679
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.245548389573445
Year of publication
2011
Drugs