Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50619
Gene Symbol: DEF6
DEF6
0.520 GeneticVariation disease BEFREE Notably, DEF6 is a newly identified human risk variant for systemic lupus erythematosus. 29483597 2018
Entrez Id: 50619
Gene Symbol: DEF6
DEF6
0.520 Biomarker disease BEFREE Thus deregulation of mTORC1-dependent pathways controlling protein synthesis can result in T-cell dysfunction, indicating a mechanism by which mTORC1 can promote autoimmunity.Excessive expansion of the T follicular helper (T<sub>FH</sub>) cell pool is associated with autoimmune disease and Def6 has been identified as an SLE risk variant. 28811467 2017
Entrez Id: 50619
Gene Symbol: DEF6
DEF6
0.520 Biomarker disease CTD_human High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. 26808113 2016
Entrez Id: 50619
Gene Symbol: DEF6
DEF6
0.520 Biomarker disease MGD Loss of IRF-4-binding protein leads to the spontaneous development of systemic autoimmunity. 16470246 2006