Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.070 | Biomarker | group | BEFREE | Loss-of-function mutations of the Autoimmune Regulator (AIRE) gene results in organ-specific autoimmunity and disease Autoimmune Polyendocrinopathy type 1 (APS1)/Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED). | 26912174 | 2016 | ||||
|
0.070 | Biomarker | group | BEFREE | Thrombus sizes were significantly larger in C6(+/+) treated with IgG-APS1 or with IgG-APS2 or with IgM-APS when compared with C6(+/+) mice treated with IgG-NHS or with IgM-NHS, respectively. | 22933620 | 2012 | ||||
|
0.070 | GeneticVariation | group | BEFREE | The experimental groups consisted of normal control (n = 15), diabetic (n = 15), insulin-treated diabetic (n = 15, NPH 1-2 U/day ip), and APS-treated diabetic (n = 30, APS 1-2 g/kg/day orally for 10 weeks) hamsters. | 19350199 | 2010 | ||||
|
0.070 | Biomarker | group | BEFREE | Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy (APECED), also known as autoimmune polyendocrine/polyglandular syndrome type 1 (APS1), is a rare disease caused by mutations in the autoimmune regulator (AIRE) gene pair resulting in absence of active AIRE protein, which is essential for both central and peripheral self-tolerance.The phenotype is widely variable. | 20118890 | 2009 | ||||
|
0.070 | GeneticVariation | group | BEFREE | Although autoimmune Addison's disease (AAD) may occur as a component of the monogenic autoimmune polyendocrinopathy type 1 syndrome (APS1), it is most commonly found as an isolated disorder or associated with the autoimmune polyendocrinopathy type 2 syndrome (APS2). | 10690877 | 2000 | ||||
|
0.070 | Biomarker | group | BEFREE | Autoimmune polyendocrinopathy-candidiasisectodermal dystrophy (APECED; also called APS-1,) is a rare autosomal recessive disorder that is more frequent in certain isolated populations. | 9856486 | 1998 | ||||
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0.070 | Biomarker | group | BEFREE | Autoimmune polyendocrinopathy type 1 (APS1) is an autosomal recessive disorder characterized by autoimmune hypoparathyroidism, autoimmune adrenocortical failure, and mucocutaneous candidiasis. | 9837820 | 1998 |