Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 326
Gene Symbol: AIRE
AIRE
0.300 Biomarker disease CTD_human Defect internalization and tyrosine kinase activation in Aire deficient antigen presenting cells exposed to Candida albicans antigens. 16982213 2006
Entrez Id: 9575
Gene Symbol: CLOCK
CLOCK
0.010 AlteredExpression disease BEFREE Altered expression of circadian clock genes in polyglandular autoimmune syndrome type III. 28884339 2018
Entrez Id: 354
Gene Symbol: KLK3
KLK3
0.010 Biomarker disease BEFREE Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the clinical spectrum of APS-3 in childhood and adolescence. 28784159 2017
Entrez Id: 10603
Gene Symbol: SH2B2
SH2B2
0.010 Biomarker disease BEFREE Although the autoimmune polyglandular syndrome type 3 (APS-3) is the commonest APS that may be encountered in pediatric age, last year literature includes only few studies aiming to specifically ascertain the clinical spectrum of APS-3 in childhood and adolescence. 28784159 2017
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22
0.010 GeneticVariation disease BEFREE The PTPN22 gene variants were associated with T1D susceptibility and APSIII [odds ratio (OR) = 2.57 and 2.77, respectively]. 26782543 2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
0.010 GeneticVariation disease BEFREE We conducted a case-control study, enrolling 173 T1D patients and 191 healthy controls from northeastern Brazil, to assess the distribution of the rs7574865 and rs3024839 SNPs in STAT4 and the rs3747517 and rs1990760 SNPs in IFIH1 in T1D and APSIII patients. 26782418 2015
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
0.010 GeneticVariation disease BEFREE We conducted a case-control study, enrolling 173 T1D patients and 191 healthy controls from northeastern Brazil, to assess the distribution of the rs7574865 and rs3024839 SNPs in STAT4 and the rs3747517 and rs1990760 SNPs in IFIH1 in T1D and APSIII patients. 26782418 2015
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.010 GeneticVariation disease BEFREE We have previously shown that a (TC)n microsatellite in intron 5 of the Forkhead Box Protein 3 (FOXP3) gene was associated with a variant of the autoimmune polyglandular syndrome type 3 (APS3v), that is defined as the co-occurrence of type 1 diabetes (T1D) and autoimmune thyroiditis (AITD). 25481456 2015
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 Biomarker disease BEFREE Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population. 16254435 2005
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.010 GeneticVariation disease BEFREE Susceptibility alleles and haplotypes of human leukocyte antigen DRB1, DQA1, and DQB1 in autoimmune polyglandular syndrome type III in Japanese population. 16254435 2005