Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Occurrence of the T gene allele of PTPN22 gene in GD manifestation in those under 40-year old was more frequent compared to individuals over 40, but the obtained difference was also not significant (p = 0.75). 30938100 2019
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE The C allele of rs3789604 (PTPN22) was a significant risk factor for LD-associated hyperthyroidism in GD patients, whereas C allele of GPR174 rs3827440 and G allele of RNASET2 rs9355610 appeared to be a protective factor for this disease. 28568286 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Objective and hypotheses: To estimate the association of polymorphisms of PTPN22, IFIH1 and TSH-R genes with the pre-disposition to Graves' disease (GD) and Hashimoto's thyroiditis (HT) in children. 29973096 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE The PTPN22 +1858 allele and genotype distribution were markedly different between APS, type 1 diabetes [T1D; odds ratio (OR): 2.67; 95% confidence interval (CI): 1.52 to 4.68; P = 0.001], Graves disease (GD; OR: 1.94; 95% CI: 1.16 to 3.25; P = 0.011), and controls (OR: 3.31, 95% CI: 1.82 to 6.02; P < 0.001). 29409002 2018
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE The C1858T polymorphism of the PTNP22 gene reduces the expression of its encoded LYP, which increases the risk of GD and HT. 28133421 2017
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Our data provide the first demonstration that PTPN22 R620W confers GD susceptibility among Latin-American patients. 28500376 2017
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease BEFREE In contrast to a single gene effect, we observed that interactions between the HLADRB1/PTPN22 and HLADRB1/CTLA4 genes more closely predicted the risk of GD onset in young patients. 26943356 2016
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease BEFREE To this purpose, we will firstly focus our attention on the role of genetic factors (the HLA complex, the genes encoding for thyroglobulin, the TSH receptor, CD40, CTLA-4 and PTPN22), and of environmental factors (iodine, infections, psychological stress, gender, smoking, thyroid damage, vitamin D, selenium, immune modulating agents) as possible causes of BD. 26293122 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease BEFREE Association analyses were performed for genes with a known influence on development of GD - TSHR, HLA-DRB1, cytotoxic T-lymphocyte antigen 4 (CTLA4) and lymphoid protein tyrosine phosphatase (PTPN22). 25061884 2014
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Imputation revealed that 255 common SNPs on a linkage disequilibrium (LD) block containing PTPN22 were associated with GD (P<0.05). 24386393 2013
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease GWASDB Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE For example, genetic polymorphisms in the Protein Tyrosine Phosphatase-22 (PTPN22) gene have reproducibly shown to have association with systemic lupus erythematosus (SLE), Graves' disease (GD), rheumatoid arthritis (RA) and multiple sclerosis (MS), but not with psoriasis. 22204900 2012
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease CTD_human Inhibition of lymphoid tyrosine phosphatase by benzofuran salicylic acids. 21190368 2011
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 21467606 2011
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease BEFREE Additionally, the CTLA-4, CD40, and PTPN22 loci do not harbor CNVs that play a role in the etiology of GD. 21054240 2011
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE The CTLA-4 rs231779, Tg rs2069550 and PTPN22 rs3789604 SNPs were associated with GD, with additive risk effects present in rs231779 and rs2069550. 19438904 2010
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. 20615141 2010
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Recently, protein tyrosine phosphatase, non-receptor type 22 (PTPN22) gene, has been found to be associated with several autoimmune diseases like SLE, Grave's disease and Hashimoto thyroiditis. 20739780 2010
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05). 19343596 2009
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE Third, family-based linkage studies led to the mapping of a new type 1 diabetes locus, the PTPN22 gene, which has subsequently been independently replicated as a susceptibility gene for Graves' disease (GD). 18081880 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE We performed a case-control study of PTPN22 gene polymorphisms in Japanese GD patients (n = 414) and healthy control subjects with no antithyroid autoantibodies or family history of autoimmune disorders (n = 231). 18578611 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease. 18305142 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 GeneticVariation disease BEFREE In a Polish population the ESR2 A allele is associated with GD with a strength comparable to polymorphisms of PTPN22 and CTLA4 CT60 loci (OR approximately 1.7). 17941906 2008
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.500 Biomarker disease BEFREE PTPN12 interacts with the same T cell activation accessory molecules, Grb2 and Csk kinase, as the Graves' disease (GD) associated PTPN22 encoded lymphoid tyrosine phosphatase (LYP) molecule and also plays a key role in T cell receptor signalling, leading to the hypothesis that it too may be involved in GD susceptibility. 17608818 2007