Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Our preliminary study suggest that PTPN22:c.1858C>T gene polymorphism may be associated with a predisposition to GD within the adult north-eastern Polish population. 30938100 2019
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Our data provide the first demonstration that PTPN22 R620W confers GD susceptibility among Latin-American patients. 28500376 2017
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation 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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Single-nucleotide polymorphism (SNP) rs2476601 in PTPN22 is the susceptibility loci of GD in the European population. 24386393 2013
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation GWASCAT Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE (3) regarding the subtypes of AITDs, patients with Graves' disease (GD) had a significant higher degree of C1858T polymorphism (TT vs. CC, OR=2.35, 95%CI=1.36˜4.05; TC vs. CC, OR=1.46, 95%CI=1.12˜1.89; TT/TC vs. CC, OR=1.54, 95%CI=1.33˜1.80; TT vs. TC/CC, OR=2.16, 95%CI=1.25˜3.72), while no association was observed in patients with Hashimoto's thyroiditis (HT).No publication bias was observed. 22374238 2012
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation GWASDB Seven newly identified loci for autoimmune thyroid disease. 22922229 2012
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 21467606 2011
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene known as R620W (rs2476601) was recently reported to be associated with several autoimmune diseases including Graves' disease (GD). 20615141 2010
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation 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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation 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
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been implicated in the risk to several autoimmune disorders, including type 1 diabetes, Graves' disease, rheumatoid arthritis and systemic lupus erythematosus. 18194365 2008
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Having previously reported significant association of the T allele of rs2476601 in a Graves' disease (GD) cohort, we sought to determine whether novel rheumatoid arthritis-associated SNPs were also contributing to susceptibility to GD. 17148556 2007
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. 16893384 2006
Graves Disease
CUI: C0018213
Disease: Graves Disease
0.900 GeneticVariation BEFREE Recently, two studies on British Caucasians reported that a single nucleotide polymorphism, 1858 C > T in PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which is a negative regulator of T-cell activation, increases the risk of GD. 15943829 2005