FOXP3, forkhead box P3, 50943

N. diseases: 688; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
0.220 Biomarker group BEFREE FoxP3(+) cells were depleted within CD4(+)CD25(+) Tregs in patients with APS (28.4%) relative to those without APS (46.3%, p = 0.008). mTOR activity was similar between SLE patients with and without APS. 25862984 2015
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
0.220 Biomarker group MGD Foxp3 regulates megakaryopoiesis and platelet function. 19661482 2009
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
0.220 AlteredExpression group BEFREE Abnormal FOXP3 expression results in defective regulatory functions of T cells, which in turn cause a systemic T-cell-mediated autoaggressive disorder, now called immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. 19122524 2008
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
0.220 Biomarker group MGD Foxp3 programs the development and function of CD4+CD25+ regulatory T cells. 12612578 2003
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
0.220 Biomarker group MGD X-linked lymphoreticular disease in the scurfy (sf) mutant mouse. 2053595 1991