chr1:114377568:A>G Detail (hg19) (PTPN22)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:114,377,568-114,377,568 |
| hg38 | chr1:113,834,946-113,834,946 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001308297.1:c.1786T>C | NP_001295226.1:p.Trp596Arg |
| NM_012411.5:c.1693T>C | NP_036543.4:p.Trp565Arg | |
| NM_001193431.2:c.1858T>C | NP_001180360.1:p.Trp620Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:1.000 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:1.000 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | rheumatoid arthritis | Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheum... | BeFree | 23350658 | Detail |
| 0.524 | rheumatoid arthritis | Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheum... | BeFree | 23350658 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... | BeFree | 19188433 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... | BeFree | 19815302 | Detail |
| 0.371 | Diabetes Mellitus, Insulin-Dependent | The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) ... | BeFree | 19188433 | Detail |
| 0.248 | Diabetes Mellitus, Insulin-Dependent | Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes ... | BeFree | 19815302 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | Considerable amount of evidences in the Caucasians have suggested the associatio... | BeFree | 22069277 | Detail |
| 0.014 | Autoimmune Diseases | The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase n... | BeFree | 21543514 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.003 | Esophageal Achalasia | Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. | BeFree | 17961776 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1... | BeFree | 21429197 | Detail |
| 0.524 | rheumatoid arthritis | PTPN22 R620W genotype-phenotype correlation analysis and gene-environment intera... | BeFree | 21752868 | Detail |
| 0.226 | Autoimmune Diseases | The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2... | BeFree | 16175503 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Association between PTPN22 C1858T and type 1 diabetes: a replication in continen... | BeFree | 18179648 | Detail |
| 0.023 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.004 | juvenile rheumatoid arthritis | The association between the functional PTPN22 1858 C/T and MIF -173 C/G polymorp... | BeFree | 22327470 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. | GWASCAT | 17632545 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | The aim of this study was to determine whether the functional protein tyrosine p... | BeFree | 21078766 | Detail |
| 0.226 | Autoimmune Diseases | The aim of this study was to assess whether the functional R620W polymorphism of... | BeFree | 20039785 | Detail |
| 0.524 | rheumatoid arthritis | The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic... | BeFree | 22704547 | Detail |
| 0.003 | brucellosis | PTPN22 C1858T polymorphism and human brucellosis. | BeFree | 19107641 | Detail |
| 0.524 | rheumatoid arthritis | Genetics of rheumatoid arthritis contributes to biology and drug discovery. | GWASCAT | 24390342 | Detail |
| 0.226 | Autoimmune Diseases | Recently, a gain of function variant C1858T of the lymphoid-specific protein tyr... | BeFree | 16893384 | Detail |
| 0.014 | Autoimmune Diseases | The aim of this study was to assess whether the functional R620W polymorphism of... | BeFree | 20039785 | Detail |
| 0.014 | Autoimmune Diseases | The functional R620W (c.1858C>T) variant of the protein tyrosine phosphatase ... | BeFree | 18028494 | Detail |
| 0.026 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.226 | Autoimmune Diseases | Polymorphisms in PTPN22 are associated with many autoimmune diseases; while rs24... | BeFree | 22197427 | Detail |
| 0.004 | juvenile rheumatoid arthritis | A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an ... | BeFree | 25003765 | Detail |
| 0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | Although the PTPN22 1858C/T variant has been reported to play a role in increasi... | BeFree | 20560680 | Detail |
| 0.009 | alopecia areata | The non-synonymous C1858T substitution in the PTPN22 gene is associated with sus... | BeFree | 16829308 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.124 | Giant Cell Arteritis | In the non-HLA region, we confirmed a key role for the functional PTPN22 rs24766... | BeFree | 25817017 | Detail |
| 0.124 | Giant Cell Arteritis | Identification of the PTPN22 functional variant R620W as susceptibility genetic ... | BeFree | 23946333 | Detail |
| 0.003 | Lupus Vulgaris | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.136 | vitiligo | Recently, a gain of function variant C1858T of the lymphoid-specific protein tyr... | BeFree | 16893384 | Detail |
| 0.145 | Graves Disease | [The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene... | GAD | 15531553 | Detail |
| 0.154 | Crohn Disease | Our data not only demonstrate a critical role of PTPN22 in regulating macrophage... | BeFree | 23913970 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoim... | BeFree | 17452059 | Detail |
| 0.008 | rheumatoid arthritis | To investigate the interrelationships among smoking, protein tyrosine phosphatas... | BeFree | 23637320 | Detail |
| 0.006 | tuberculosis | Association between the PTPN22 1858C/T gene polymorphism and tuberculosis resist... | BeFree | 23499775 | Detail |
| 0.005 | myasthenia gravis | DNA samples from 416 patients with clinically diagnosed generalized MG (231 with... | BeFree | 25119822 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | When considering rs2476601 'C' founder chromosomes, a second haplotype (AGGGGC) ... | BeFree | 19956096 | Detail |
| 0.003 | Lupus Erythematosus, Discoid | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.027 | lupus erythematosus | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.154 | Crohn Disease | [Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 i... | GAD | 16391555 | Detail |
| 0.226 | Autoimmune Diseases | An elevated PTPN22 1858C/T genotype frequency has been correlated with several a... | BeFree | 21585555 | Detail |
| 0.014 | endometriosis | PTPN22 C1858T polymorphism in women with endometriosis. | BeFree | 20070289 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | Association analysis of the R620W polymorphism of protein tyrosine phosphatase P... | BeFree | 16052563 | Detail |
| 0.250 | Diabetes Mellitus, Insulin-Dependent | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The aim of this study was to determine whether the functional protein tyrosine p... | BeFree | 23054006 | Detail |
| 0.226 | Autoimmune Diseases | Some studies showed associations of the minor T allele of the C1858T single nucl... | BeFree | 23314521 | Detail |
| 0.524 | rheumatoid arthritis | A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an ... | BeFree | 25003765 | Detail |
| 0.154 | Crohn Disease | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's diseas... | GWASCAT | 21102463 | Detail |
| 0.014 | Autoimmune Diseases | A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine... | BeFree | 16163373 | Detail |
| 0.014 | Autoimmune Diseases | The protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C>T poly-morph... | BeFree | 19210878 | Detail |
| 0.226 | Autoimmune Diseases | Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to the... | BeFree | 15933742 | Detail |
| 0.011 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.003 | Tuberculosis, Pulmonary | This study is the first to investigate the association between pulmonary TB and ... | BeFree | 23499775 | Detail |
| 0.524 | rheumatoid arthritis | The PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated pep... | BeFree | 17553139 | Detail |
| <0.001 | Granulomatosis | This meta-analysis does not show that the PTPN22 C1858T polymorphism is associat... | BeFree | 22696186 | Detail |
| <0.001 | Bacterial Infections | The PTPN22 R620W polymorphism is associated with severe bacterial infections aft... | BeFree | 18580482 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | We report that a recently described functional single-nucleotide polymorphism (r... | BeFree | 15719322 | Detail |
| 0.524 | rheumatoid arthritis | We conclude that C1858T is the sole PTPN22 variant predisposing to RA in our whi... | BeFree | 17135225 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Association of PTPN22 C1858T polymorphism and type 1 diabetes: a meta-analysis. | BeFree | 22429252 | Detail |
| <0.001 | juvenile rheumatoid arthritis | The aim of this study was to determine whether the protein tyrosine phosphatase ... | BeFree | 22327470 | Detail |
| 0.014 | Autoimmune Diseases | The 1858T allele of protein tyrosine phosphatase nonreceptor type 22 (PTPN22; R6... | BeFree | 22857794 | Detail |
| 0.001 | Generalized vitiligo | The PTPN22-1858C>T (R620W) functional polymorphism is associated with general... | BeFree | 18426414 | Detail |
| 0.226 | Autoimmune Diseases | Several studies have identified a functional single nucleotide polymorphism 1858... | BeFree | 17066073 | Detail |
| 0.019 | Juvenile arthritis | [Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiop... | GAD | 15934099 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with... | BeFree | 15620463 | Detail |
| 0.006 | thymoma | DNA samples from 416 patients with clinically diagnosed generalized MG (231 with... | BeFree | 25119822 | Detail |
| 0.014 | Autoimmune Diseases | A common polymorphism (C1858T) in the gene that encodes the protein tyrosine pho... | BeFree | 25040563 | Detail |
| <0.001 | Superficial ulcer | To investigate the interrelationships among smoking, protein tyrosine phosphatas... | BeFree | 23637320 | Detail |
| 0.226 | Autoimmune Diseases | Two independent functional missense single nucleotide polymorphisms (SNPs) locat... | BeFree | 23559857 | Detail |
| 0.005 | Autoimmune thyroid disease | [Association analysis of the R620W polymorphism of protein tyrosine phosphatase ... | GAD | 16052563 | Detail |
| 0.226 | Autoimmune Diseases | The non-synonymous C1858T substitution in the PTPN22 gene, which encodes lymphoi... | BeFree | 16829308 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | PTPN22(R620W) allele T was associated with development of persistent islet autoi... | BeFree | 19188433 | Detail |
| 0.124 | Giant Cell Arteritis | Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobuli... | BeFree | 25405820 | Detail |
| 0.226 | Autoimmune Diseases | The 1858C>T (R620W) functional polymorphism of the PTPN22 gene, which encodes... | BeFree | 18426414 | Detail |
| 0.005 | Autoimmune thyroid disease | Significant difference in the distribution of the haplotype suggests that the PT... | BeFree | 20615141 | Detail |
| 0.136 | vitiligo | [We observed associations between generalized vitiligo and markers implicating m... | GAD | 20410501 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | Multiplex family-based study in systemic lupus erythematosus: association betwee... | BeFree | 17092257 | Detail |
| 0.524 | rheumatoid arthritis | Our study suggests that the PTPN22 C1858T polymorphism acts as a susceptibility ... | BeFree | 21506938 | Detail |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.226 | Autoimmune Diseases | The protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C>T poly-morph... | BeFree | 19210878 | Detail |
| 0.008 | rheumatoid arthritis | The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2... | BeFree | 16175503 | Detail |
| 0.226 | Autoimmune Diseases | The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 g... | BeFree | 20510318 | Detail |
| 0.130 | myasthenia gravis | The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-tit... | BeFree | 19406179 | Detail |
| 0.008 | celiac disease | The functional R620W variant of the PTPN22 gene is associated with celiac diseas... | BeFree | 18194365 | Detail |
| 0.226 | Autoimmune Diseases | The 1858T allele of protein tyrosine phosphatase nonreceptor type 22 (PTPN22; R6... | BeFree | 22857794 | Detail |
| 0.226 | Autoimmune Diseases | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Typ... | BeFree | 26018863 | Detail |
| 0.226 | Autoimmune Diseases | The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE sus... | BeFree | 16052563 | Detail |
| 0.317 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children a... | BeFree | 23314521 | Detail |
| 0.009 | ulcerative colitis | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (... | BeFree | 23974994 | Detail |
| 0.001 | thyroiditis | Stratifying patients affected with AITDs according to their phenotype (Graves' d... | BeFree | 19343596 | Detail |
| 0.009 | arthritis | The aim of this study was to use and compare three different definitions of inte... | BeFree | 17436241 | Detail |
| 0.005 | Autoimmune thyroid disease | Association analysis of the R620W polymorphism of protein tyrosine phosphatase P... | BeFree | 16052563 | Detail |
| 0.003 | Lupus Erythematosus, Discoid | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.226 | Autoimmune Diseases | Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, ... | BeFree | 23076337 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | Recently, protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphi... | BeFree | 22429252 | Detail |
| 0.130 | myasthenia gravis | PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthe... | BeFree | 18533277 | Detail |
| 0.130 | myasthenia gravis | Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human ... | GWASCAT | 23055271 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Meta-analysis of the family-based association between the PTPN22 C1858T polymorp... | BeFree | 23054006 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Analysis of PTPN22 C1858T gene polymorphism in cases with type 1 diabetes of Aze... | BeFree | 25243643 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in... | BeFree | 17697317 | Detail |
| 0.008 | autoimmune thyroiditis | To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabete... | BeFree | 20438787 | Detail |
| 0.003 | Lupus Vulgaris | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.010 | systemic scleroderma | Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anti... | BeFree | 17133608 | Detail |
| 0.027 | lupus erythematosus | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.008 | Lupus Vulgaris | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.080 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is... | BeFree | 23291413 | Detail |
| 0.226 | Autoimmune Diseases | The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analys... | BeFree | 16760194 | Detail |
| 0.014 | Autoimmune Diseases | The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non... | BeFree | 18194365 | Detail |
| 0.121 | Lupus Erythematosus, Systemic | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.145 | Graves Disease | Recently, a gain of function variant C1858T of the lymphoid-specific protein tyr... | BeFree | 16893384 | Detail |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | The aim of this study was to explore whether cytotoxic T lymphocyte antigen-4 (C... | BeFree | 23264102 | Detail |
| 0.010 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.524 | rheumatoid arthritis | We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SN... | BeFree | 21492465 | Detail |
| 0.014 | Autoimmune Diseases | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.360 | rheumatoid arthritis | Consistent interaction, defined as departure from additivity, between HLA-DRB1 S... | BeFree | 17436241 | Detail |
| 0.226 | Autoimmune Diseases | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| <0.001 | Superficial ulcer | Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoanti... | BeFree | 23637320 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related trai... | BeFree | 17259401 | Detail |
| 0.524 | rheumatoid arthritis | The aim of this study was to assess whether the C1858T polymorphism of PTPN22 al... | BeFree | 21543514 | Detail |
| 0.011 | Lupus Erythematosus, Discoid | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.002 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encod... | UNIPROT | 15004560 | Detail |
| 0.003 | myasthenia gravis | The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-tit... | BeFree | 19406179 | Detail |
| 0.001 | Autoimmune thyroid disease | Association analysis of the R620W polymorphism of protein tyrosine phosphatase P... | BeFree | 16052563 | Detail |
| 0.002 | Inflammatory Bowel Diseases | The aim of this study was to assess the possible association between the protein... | BeFree | 16185327 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.004 | diabetes mellitus | The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped i... | BeFree | 17054449 | Detail |
| 0.008 | rheumatoid arthritis | The aim of this study was to determine whether the protein tyrosine phosphatase ... | BeFree | 21706348 | Detail |
| 0.006 | multiple sclerosis | [Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 i... | GAD | 16391555 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | A functional variant of lymphoid tyrosine phosphatase is associated with type I ... | UNIPROT | 15004560 | Detail |
| 0.004 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.012 | psoriasis | PTPN22 C1858T and the risk of psoriasis: a meta-analysis. | BeFree | 22544573 | Detail |
| <0.001 | Lupus Vulgaris | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.014 | Autoimmune Diseases | Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has ... | BeFree | 16339849 | Detail |
| 0.012 | Addison Disease | [These data suggest that this LYP polymorphism is a susceptibility allele for Gr... | GAD | 15531553 | Detail |
| 0.005 | hepatitis C | PTPN22 C1858T polymorphism and the outcome of hepatitis C virus infection. | BeFree | 19115939 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.136 | vitiligo | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| 0.014 | Autoimmune Diseases | A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphat... | BeFree | 20615141 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | Genetic association of the R620W polymorphism of protein tyrosine phosphatase PT... | BeFree | 15273934 | Detail |
| 0.027 | lupus erythematosus | [ The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE s... | GAD | 16052563 | Detail |
| 0.008 | rheumatoid arthritis | A common polymorphism (C1858T) in the gene that encodes the protein tyrosine pho... | BeFree | 25040563 | Detail |
| <0.001 | Graves Disease | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Genotype, allele, and phenotype distributions of the PTPN22 C1858T variant revea... | BeFree | 18056891 | Detail |
| 0.524 | rheumatoid arthritis | Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoanti... | BeFree | 23637320 | Detail |
| <0.001 | Graves Disease | A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphat... | BeFree | 20615141 | Detail |
| 0.019 | Juvenile arthritis | A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an ... | BeFree | 25003765 | Detail |
| 0.524 | rheumatoid arthritis | The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk ind... | BeFree | 20975833 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | Association of the PTPN22 R620W polymorphism with increased risk for SLE in the ... | BeFree | 21543514 | Detail |
| 0.201 | Lupus Erythematosus, Systemic | Multiplex family-based study in systemic lupus erythematosus: association betwee... | BeFree | 17092257 | Detail |
| 0.014 | Autoimmune Diseases | A functional variant (R620W) of the intracellular protein tyrosine phosphatase N... | BeFree | 15790351 | Detail |
| 0.004 | rheumatoid arthritis | To investigate a possible association between functional polymorphisms of the pr... | BeFree | 20707220 | Detail |
| <0.001 | Thyroid Diseases | Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene ... | BeFree | 22374238 | Detail |
| <0.001 | Lupus Erythematosus, Discoid | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| <0.001 | vitiligo | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated h... | BeFree | 19956096 | Detail |
| 0.524 | rheumatoid arthritis | Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheum... | BeFree | 21965649 | Detail |
| 0.014 | Autoimmune Diseases | Some studies showed associations of the minor T allele of the C1858T single nucl... | BeFree | 23314521 | Detail |
| 0.295 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.371 | Diabetes Mellitus, Insulin-Dependent | The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1... | BeFree | 21429197 | Detail |
| 0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | The CTLA-4 +49 A/G, CT60 A/G and PTPN22 1858 C/T polymorphisms and susceptibilit... | BeFree | 23264102 | Detail |
| 0.006 | tuberculosis | The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tu... | BeFree | 20739780 | Detail |
| 0.360 | rheumatoid arthritis | To analyse the relationship between the presence of auto-antibodies [rheumatoid ... | BeFree | 18156150 | Detail |
| 0.059 | arthritis | The aim of this study was to use and compare three different definitions of inte... | BeFree | 17436241 | Detail |
| 0.008 | rheumatoid arthritis | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | Recently, a gain of function variant C1858T of the lymphoid-specific protein tyr... | BeFree | 16893384 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | Genetic association of the R620W polymorphism of protein tyrosine phosphatase PT... | BeFree | 15273934 | Detail |
| 0.524 | rheumatoid arthritis | In contrast with a study of American patients with RA no evidence of association... | BeFree | 17170052 | Detail |
| 0.226 | Autoimmune Diseases | A functional variant (R620W) of the intracellular protein tyrosine phosphatase N... | BeFree | 15790351 | Detail |
| 0.226 | Autoimmune Diseases | A common polymorphism (C1858T) in the gene that encodes the protein tyrosine pho... | BeFree | 25040563 | Detail |
| <0.001 | myasthenia gravis | PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthe... | BeFree | 18533277 | Detail |
| 0.027 | lupus erythematosus | [Together with recent evidence showing association of this SNP with type 1 diabe... | GAD | 15273934 | Detail |
| 0.524 | rheumatoid arthritis | PTPN22 has emerged strongly as a genuine rheumatoid arthritis susceptibility gen... | BeFree | 16462519 | Detail |
| 0.129 | Inflammatory Bowel Diseases | This meta-analysis showed the association between the T-allele and the T/T genot... | BeFree | 16760194 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The results showed a remarkable pattern; PTPN22 C1858T was strongly associated w... | BeFree | 23076337 | Detail |
| 0.004 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | We highlight the pathogenic significance of the C1858T PTPN22 polymorphism in hu... | BeFree | 23261816 | Detail |
| 0.020 | lupus erythematosus | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.154 | Crohn Disease | Genome-wide association defines more than 30 distinct susceptibility loci for Cr... | GWASCAT | 18587394 | Detail |
| 0.003 | Tuberculosis, Pulmonary | Significant differences were not observed in genotype or allele frequencies of P... | BeFree | 22614276 | Detail |
| 0.145 | Graves Disease | Stratifying patients affected with AITDs according to their phenotype (Graves' d... | BeFree | 19343596 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non... | BeFree | 18194365 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Fourth, at PTPN22, there was evidence for a novel contribution to T1D risk, inde... | BeFree | 19956109 | Detail |
| 0.524 | rheumatoid arthritis | The association between the PTPN22 C1858T polymorphism and rheumatoid arthritis:... | BeFree | 21706348 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The role of PTPN22 C1858T gene polymorphism in diabetes mellitus type 1: first e... | BeFree | 23936838 | Detail |
| 0.006 | tuberculosis | Genetic influence of PTPN22 R620W polymorphism in tuberculosis. | BeFree | 16690411 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The association between the PTPN22 C1858T polymorphism and systemic lupus erythe... | BeFree | 21078766 | Detail |
| 0.524 | rheumatoid arthritis | A recent study reported associations of a series of single nucleotide polymorphi... | BeFree | 17148556 | Detail |
| <0.001 | vasculitis | This meta-analysis does not show that the PTPN22 C1858T polymorphism is associat... | BeFree | 22696186 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | TPOAbs status did not correlate with age at diagnosis of type 1 diabetes or with... | BeFree | 17334650 | Detail |
| 0.014 | Autoimmune Diseases | A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, no... | BeFree | 24913133 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Interplay between PTPN22 C1858T polymorphism and cow's milk formula exposure in ... | BeFree | 19473815 | Detail |
| 0.120 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 | A functional variant of lymphoid tyrosine phosphatase is associated with type I ... | UNIPROT | 15004560 | Detail |
| 0.226 | Autoimmune Diseases | These results indicate that the PTPN22 gene polymorphism independent of the SNP ... | BeFree | 22069277 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non... | BeFree | 18194365 | Detail |
| 0.098 | Lupus Erythematosus, Systemic | PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Typ... | BeFree | 26018863 | Detail |
| 0.019 | Juvenile arthritis | The association between the functional PTPN22 1858 C/T and MIF -173 C/G polymorp... | BeFree | 22327470 | Detail |
| <0.001 | thymoma | DNA samples from 416 patients with clinically diagnosed generalized MG (231 with... | BeFree | 25119822 | Detail |
| 0.136 | vitiligo | Although the PTPN22 1858C/T variant has been reported to play a role in increasi... | BeFree | 20560680 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children a... | BeFree | 23314521 | Detail |
| 0.010 | systemic scleroderma | The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic... | BeFree | 22704547 | Detail |
| 0.007 | Lupus Erythematosus, Systemic | The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non... | BeFree | 18194365 | Detail |
| 0.014 | Autoimmune Diseases | Considerable amount of evidences in the Caucasians have suggested the associatio... | BeFree | 22069277 | Detail |
| 0.003 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | PTPN22 R620W polymorphism in the ANCA-associated vasculitides. | BeFree | 22237046 | Detail |
| 0.226 | Autoimmune Diseases | The association of subsets of SSc with the PTPN22 R620W polymorphism further str... | BeFree | 17133608 | Detail |
| 0.010 | systemic scleroderma | Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosi... | BeFree | 16870103 | Detail |
| 0.524 | rheumatoid arthritis | Our data suggest that the PTPN22 C1858T single nucleotide polymorphism has no or... | BeFree | 19343596 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | Among the genetic variants associated with type 1 diabetes, the C1858T (Lyp) pol... | BeFree | 25333705 | Detail |
| 0.002 | Diabetes | The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped i... | BeFree | 17054449 | Detail |
| <0.001 | lupus erythematosus | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.524 | rheumatoid arthritis | A functional variant of lymphoid tyrosine phosphatase is associated with type I ... | UNIPROT | 15004560 | Detail |
| 0.014 | Autoimmune Diseases | The rs2476601-T allele at the protein tyrosine phosphatase non-receptor type 22 ... | BeFree | 20166877 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been ... | BeFree | 23438410 | Detail |
| 0.008 | rheumatoid arthritis | To investigate a possible association between functional polymorphisms of the pr... | BeFree | 20707220 | Detail |
| 0.226 | Autoimmune Diseases | The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non... | BeFree | 18194365 | Detail |
| 0.360 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.008 | celiac disease | [Altogether, we have provided further evidence of an association between autoimm... | GAD | 15759012 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, no... | BeFree | 24913133 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | These results indicate that the PTPN22 gene polymorphism independent of the SNP ... | BeFree | 22069277 | Detail |
| 0.002 | Cholangitis, Sclerosing | [Altogether, we have provided further evidence of an association between autoimm... | GAD | 15759012 | Detail |
| 0.001 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
| 0.008 | celiac disease | This meta-analysis showed the association between the T-allele and the T/T genot... | BeFree | 16760194 | Detail |
| 0.226 | Autoimmune Diseases | PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. | BeFree | 16163373 | Detail |
| 0.014 | Autoimmune Diseases | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.136 | vitiligo | Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | GWASCAT | 20410501 | Detail |
| 0.226 | Autoimmune Diseases | A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphat... | BeFree | 20615141 | Detail |
| <0.001 | systemic scleroderma | The aim of this study was to determine whether the functional protein tyrosine p... | BeFree | 21688149 | Detail |
| 0.014 | Autoimmune Diseases | To assess whether combined evidence shows the association between the protein ty... | BeFree | 16760194 | Detail |
| 0.226 | Autoimmune Diseases | The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthrit... | BeFree | 21965649 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | PTPN22 gene polymorphism (C1858T) is associated with susceptibility to type 1 di... | BeFree | 23438410 | Detail |
| 0.226 | Autoimmune Diseases | Because a functional PTPN22 polymorphism, C1858T, has been found to be associate... | BeFree | 17961776 | Detail |
| 0.001 | Acute anterior uveitis | By contrast, PTPN22 C1858T showed a negligible association with systemic scleros... | BeFree | 23076337 | Detail |
| <0.001 | rheumatic heart disease | No association of PTPN22 R620W gene polymorphism with rheumatic heart disease an... | BeFree | 21384170 | Detail |
| 0.003 | Lupus Erythematosus, Systemic | It was reported that a missense single nucleotide polymorphism , R620W (rs247660... | BeFree | 16052172 | Detail |
| 0.008 | Thyroid Diseases | Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene ... | BeFree | 22374238 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | The R620W (1858C-->T) polymorphism in PTPN22 has been implicated in type 1 di... | BeFree | 16868974 | Detail |
| 0.005 | Hashimoto Disease | To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabete... | BeFree | 20438787 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Among the genetic variants associated with type 1 diabetes, the C1858T (Lyp) pol... | BeFree | 25333705 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independent... | BeFree | 16052172 | Detail |
| 0.010 | systemic scleroderma | By contrast, PTPN22 C1858T showed a negligible association with systemic scleros... | BeFree | 23076337 | Detail |
| 0.226 | Autoimmune Diseases | PTPN22 is involved in T-cell activation and its R620W single-nucleotide polymorp... | BeFree | 22237046 | Detail |
| 0.136 | vitiligo | The CTLA-4 +49 A/G, CT60 A/G and PTPN22 1858 C/T polymorphisms and susceptibilit... | BeFree | 23264102 | Detail |
| 0.524 | rheumatoid arthritis | The PTPN22 C1858T polymorphism and rheumatoid arthritis: a meta-analysis. | BeFree | 23370857 | Detail |
| 0.524 | rheumatoid arthritis | REL, encoding a member of the NF-kappaB family of transcription factors, is a ne... | GWASCAT | 19503088 | Detail |
| 0.524 | rheumatoid arthritis | TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. | GWASCAT | 17804836 | Detail |
| 0.524 | rheumatoid arthritis | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.226 | Autoimmune Diseases | A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, no... | BeFree | 24913133 | Detail |
| 0.524 | rheumatoid arthritis | Genome-wide association study meta-analysis identifies seven new rheumatoid arth... | GWASCAT | 20453842 | Detail |
| 0.005 | Autoimmune thyroid disease | R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE suscept... | BeFree | 23314521 | Detail |
| 0.226 | Autoimmune Diseases | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.180 | Lupus Erythematosus, Systemic | The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independent... | BeFree | 16052172 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | [Eleven of 52 non-MHC T1D loci showed evidence of association with at least one ... | GAD | 21829393 | Detail |
| 0.226 | Autoimmune Diseases | We checked for the prevalence of the PTPN22 R620W polymorphism in multiplex fami... | BeFree | 17092257 | Detail |
| 0.009 | alopecia areata | The R620W polymorphism in PTPN22 confers general susceptibility for the developm... | BeFree | 18028494 | Detail |
| 0.524 | rheumatoid arthritis | Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extend... | GWASCAT | 24449572 | Detail |
| <0.001 | Juvenile arthritis | The aim of this study was to determine whether the protein tyrosine phosphatase ... | BeFree | 22327470 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | No association of PTPN22 R620W gene polymorphism with rheumatic heart disease an... | BeFree | 21384170 | Detail |
| 0.014 | Autoimmune Diseases | The non-synonymous C1858T substitution in the PTPN22 gene, which encodes lymphoi... | BeFree | 16829308 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | [ We replicated the findings of a previous association with RA and identified a ... | GAD | 15934099 | Detail |
| 0.008 | rheumatoid arthritis | A functional variant (R620W) of the intracellular protein tyrosine phosphatase N... | BeFree | 15790351 | Detail |
| 0.226 | Autoimmune Diseases | The PTPN22 1858C/T polymorphism has been associated with several autoimmune dise... | BeFree | 17553139 | Detail |
| 0.371 | Diabetes Mellitus, Insulin-Dependent | Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin a... | BeFree | 16614815 | Detail |
| 0.524 | rheumatoid arthritis | The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis i... | BeFree | 15674368 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents... | BeFree | 23359562 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin a... | BeFree | 16614815 | Detail |
| 0.524 | rheumatoid arthritis | A genome-wide association study suggests contrasting associations in ACPA-positi... | GWASCAT | 21156761 | Detail |
| 0.013 | Diabetes Mellitus, Non-Insulin-Dependent | [These results suggest that individuals with increased genetic susceptibility to... | GAD | 20203524 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 g... | BeFree | 20510318 | Detail |
| 0.002 | Sjogren's syndrome | [PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases.] | GAD | 16163373 | Detail |
| 0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs24... | BeFree | 16464986 | Detail |
| 0.226 | Autoimmune Diseases | An increasing amount of epidemiologic investigations has associated the presence... | BeFree | 23261816 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated ... | BeFree | 15526003 | Detail |
| 0.226 | Autoimmune Diseases | The functional R620W (c.1858C>T) variant of the protein tyrosine phosphatase ... | BeFree | 18028494 | Detail |
| 0.027 | lupus erythematosus | [Altogether, we have provided further evidence of an association between autoimm... | GAD | 15759012 | Detail |
| 0.010 | systemic scleroderma | The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a... | BeFree | 21688149 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Genome-wide association study and meta-analysis find that over 40 loci affect ri... | GWASCAT | 19430480 | Detail |
| 0.003 | Bacterial Infections | The PTPN22 R620W polymorphism is associated with severe bacterial infections aft... | BeFree | 18580482 | Detail |
| 0.130 | myasthenia gravis | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-my... | BeFree | 25119822 | Detail |
| 0.226 | Autoimmune Diseases | The association of a coding variant of the PTPN22 gene (R620W) with a number of ... | BeFree | 19343596 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | Evaluation of the genetic association of the PTPN22 R620W polymorphism in famili... | BeFree | 16868974 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles t... | BeFree | 18759295 | Detail |
| 0.031 | Diabetes Mellitus, Insulin-Dependent | An increasing amount of epidemiologic investigations has associated the presence... | BeFree | 23261816 | Detail |
| 0.226 | Autoimmune Diseases | The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase n... | BeFree | 21543514 | Detail |
| 0.226 | Autoimmune Diseases | A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoim... | BeFree | 17452059 | Detail |
| 0.226 | Autoimmune Diseases | The C1858T single nucleotide polymorphism in PTPN22, which is the gene encoding ... | BeFree | 23333624 | Detail |
| 0.145 | Graves Disease | We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. | BeFree | 21467606 | Detail |
| 0.003 | ulcerative colitis | SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (... | BeFree | 23974994 | Detail |
| 0.145 | Graves Disease | The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynony... | BeFree | 18305142 | Detail |
| 0.226 | Autoimmune Diseases | In concordance with a previous data establishing PTPN22 1858 C/T SNP association... | BeFree | 21467606 | Detail |
| 0.019 | Juvenile arthritis | [Finnish case-control and family studies support PTPN22 R620W polymorphism as a ... | GAD | 16107870 | Detail |
| 0.226 | Autoimmune Diseases | Recently, the missense R620W polymorphism in the PTPN22 gene, which encodes lymp... | BeFree | 16015369 | Detail |
| 0.014 | Autoimmune Diseases | The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 g... | BeFree | 20510318 | Detail |
| 0.524 | rheumatoid arthritis | Consistent interaction, defined as departure from additivity, between HLA-DRB1 S... | BeFree | 17436241 | Detail |
| 0.226 | Autoimmune Diseases | Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has ... | BeFree | 16339849 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in ... | BeFree | 17130532 | Detail |
| 0.524 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.014 | Autoimmune Diseases | An increasing amount of epidemiologic investigations has associated the presence... | BeFree | 23261816 | Detail |
| 0.226 | Autoimmune Diseases | A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620... | BeFree | 16690758 | Detail |
| 0.475 | Diabetes Mellitus, Insulin-Dependent | Robust associations of four new chromosome regions from genome-wide analyses of ... | GWASCAT | 17554260 | Detail |
| <0.001 | vitiligo | The aim of this study was to explore whether cytotoxic T lymphocyte antigen-4 (C... | BeFree | 23264102 | Detail |
| 0.226 | Autoimmune Diseases | The missense PTPN22 C1858T polymorphism recently emerged as an important populat... | BeFree | 18179648 | Detail |
| 0.226 | Autoimmune Diseases | Previous studies identified the functional polymorphism 1858C/T in the gene PTPN... | BeFree | 23499775 | Detail |
| 0.276 | Lupus Erythematosus, Systemic | The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic... | BeFree | 22704547 | Detail |
| 0.317 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.168 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.345 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.311 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.277 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.317 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.524 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.254 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.129 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| <0.001 | Diabetes | In survival analysis, 45% of general population DAISY children with PTPN22 rs247... | BeFree | 25075402 | Detail |
| <0.001 | diabetes mellitus | In survival analysis, 45% of general population DAISY children with PTPN22 rs247... | BeFree | 25075402 | Detail |
| 0.012 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.008 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.183 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.013 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| <0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.327 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.009 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.131 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.126 | Crohn Disease | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.295 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.034 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| <0.001 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
| 0.154 | Crohn Disease | After Bonferroni correction for multiple testing, both the homozygous and the he... | BeFree | 24971461 | Detail |
| 0.371 | Crohn Disease | After Bonferroni correction for multiple testing, both the homozygous and the he... | BeFree | 24971461 | Detail |
| 0.340 | Inflammatory Bowel Diseases | After Bonferroni correction for multiple testing, both the homozygous and the he... | BeFree | 24971461 | Detail |
| 0.187 | ulcerative colitis | The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL... | BeFree | 24971461 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Z... | DisGeNET | Detail |
| Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Z... | DisGeNET | Detail |
| The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... | DisGeNET | Detail |
| Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. | DisGeNET | Detail |
| The influence of polymorphisms of INS(-23Hph1), CTLA-4(T17A), and PTPN22(R620W) on development of pe... | DisGeNET | Detail |
| Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. | DisGeNET | Detail |
| Considerable amount of evidences in the Caucasians have suggested the association of a missense sing... | DisGeNET | Detail |
| The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 ... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. | DisGeNET | Detail |
| The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes. | DisGeNET | Detail |
| PTPN22 R620W genotype-phenotype correlation analysis and gene-environment interaction study in early... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hemat... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| The association between the functional PTPN22 1858 C/T and MIF -173 C/G polymorphisms and juvenile i... | DisGeNET | Detail |
| A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. | DisGeNET | Detail |
| The aim of this study was to determine whether the functional protein tyrosine phosphatase nonrecept... | DisGeNET | Detail |
| The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine ph... | DisGeNET | Detail |
| The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus... | DisGeNET | Detail |
| PTPN22 C1858T polymorphism and human brucellosis. | DisGeNET | Detail |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. | DisGeNET | Detail |
| Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase no... | DisGeNET | Detail |
| The aim of this study was to assess whether the functional R620W polymorphism of protein tyrosine ph... | DisGeNET | Detail |
| The functional R620W (c.1858C>T) variant of the protein tyrosine phosphatase nonreceptor 22 gene ... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| Polymorphisms in PTPN22 are associated with many autoimmune diseases; while rs2476601 is supposed to... | DisGeNET | Detail |
| A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in... | DisGeNET | Detail |
| Although the PTPN22 1858C/T variant has been reported to play a role in increasing the risk of vitil... | DisGeNET | Detail |
| The non-synonymous C1858T substitution in the PTPN22 gene is associated with susceptibility to the s... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and propo... | DisGeNET | Detail |
| Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cel... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase no... | DisGeNET | Detail |
| [The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determin... | DisGeNET | Detail |
| Our data not only demonstrate a critical role of PTPN22 in regulating macrophage polarization but al... | DisGeNET | Detail |
| A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Cau... | DisGeNET | Detail |
| To investigate the interrelationships among smoking, protein tyrosine phosphatase non-receptor 22 (P... | DisGeNET | Detail |
| Association between the PTPN22 1858C/T gene polymorphism and tuberculosis resistance. | DisGeNET | Detail |
| DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholin... | DisGeNET | Detail |
| When considering rs2476601 'C' founder chromosomes, a second haplotype (AGGGGC) centromeric of PTPN2... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| [Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn\'s disease a... | DisGeNET | Detail |
| An elevated PTPN22 1858C/T genotype frequency has been correlated with several autoimmune disorders ... | DisGeNET | Detail |
| PTPN22 C1858T polymorphism in women with endometriosis. | DisGeNET | Detail |
| Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lu... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| The aim of this study was to determine whether the functional protein tyrosine phosphatase nonrecept... | DisGeNET | Detail |
| Some studies showed associations of the minor T allele of the C1858T single nucleotide polymorphism ... | DisGeNET | Detail |
| A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in... | DisGeNET | Detail |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loc... | DisGeNET | Detail |
| A functional single nucleotide polymorphism (SNP) C1858T in the protein tyrosine phosphatase nonrece... | DisGeNET | Detail |
| The protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C>T poly-morphic variant gene (rs2... | DisGeNET | Detail |
| Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseas... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| This study is the first to investigate the association between pulmonary TB and the PTPN22 1858C/T p... | DisGeNET | Detail |
| The PTPN22 1858C/T polymorphism is associated with anti-cyclic citrullinated peptide antibody-positi... | DisGeNET | Detail |
| This meta-analysis does not show that the PTPN22 C1858T polymorphism is associated with vasculitis s... | DisGeNET | Detail |
| The PTPN22 R620W polymorphism is associated with severe bacterial infections after human leukocyte a... | DisGeNET | Detail |
| We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R... | DisGeNET | Detail |
| We conclude that C1858T is the sole PTPN22 variant predisposing to RA in our white Dutch sample set. | DisGeNET | Detail |
| Association of PTPN22 C1858T polymorphism and type 1 diabetes: a meta-analysis. | DisGeNET | Detail |
| The aim of this study was to determine whether the protein tyrosine phosphatase nonreceptor 22 (PTPN... | DisGeNET | Detail |
| The 1858T allele of protein tyrosine phosphatase nonreceptor type 22 (PTPN22; R620W) exhibits one of... | DisGeNET | Detail |
| The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the... | DisGeNET | Detail |
| Several studies have identified a functional single nucleotide polymorphism 1858C/T in the PTPN22 ge... | DisGeNET | Detail |
| [Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a... | DisGeNET | Detail |
| Association of the single nucleotide polymorphism C1858T of the PTPN22 gene with type 1 diabetes. | DisGeNET | Detail |
| DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholin... | DisGeNET | Detail |
| A common polymorphism (C1858T) in the gene that encodes the protein tyrosine phosphatase non-recepto... | DisGeNET | Detail |
| To investigate the interrelationships among smoking, protein tyrosine phosphatase non-receptor 22 (P... | DisGeNET | Detail |
| Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22... | DisGeNET | Detail |
| [Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic l... | DisGeNET | Detail |
| The non-synonymous C1858T substitution in the PTPN22 gene, which encodes lymphoid protein tyrosine p... | DisGeNET | Detail |
| PTPN22(R620W) allele T was associated with development of persistent islet autoimmunity (hazard rati... | DisGeNET | Detail |
| Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobulin A vasculitis, have... | DisGeNET | Detail |
| The 1858C>T (R620W) functional polymorphism of the PTPN22 gene, which encodes lymphoid protein ty... | DisGeNET | Detail |
| Significant difference in the distribution of the haplotype suggests that the PTPN22 gene rather tha... | DisGeNET | Detail |
| [We observed associations between generalized vitiligo and markers implicating multiple genes, some ... | DisGeNET | Detail |
| Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorp... | DisGeNET | Detail |
| Our study suggests that the PTPN22 C1858T polymorphism acts as a susceptibility gene for autoantibod... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| The protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C>T poly-morphic variant gene (rs2... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP) (rs2476601) in the hemat... | DisGeNET | Detail |
| The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 gene (PTPN22) confers... | DisGeNET | Detail |
| The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-titin antibody-positive... | DisGeNET | Detail |
| The functional R620W variant of the PTPN22 gene is associated with celiac disease. | DisGeNET | Detail |
| The 1858T allele of protein tyrosine phosphatase nonreceptor type 22 (PTPN22; R620W) exhibits one of... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Type I Interferon in Sy... | DisGeNET | Detail |
| The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our s... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with ... | DisGeNET | Detail |
| SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13or... | DisGeNET | Detail |
| Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto... | DisGeNET | Detail |
| The aim of this study was to use and compare three different definitions of interaction between the ... | DisGeNET | Detail |
| Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lu... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the... | DisGeNET | Detail |
| Recently, protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism has been identifi... | DisGeNET | Detail |
| PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. | DisGeNET | Detail |
| Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*... | DisGeNET | Detail |
| Meta-analysis of the family-based association between the PTPN22 C1858T polymorphism and type 1 diab... | DisGeNET | Detail |
| Analysis of PTPN22 C1858T gene polymorphism in cases with type 1 diabetes of Azerbaijan, Northwest I... | DisGeNET | Detail |
| Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish populat... | DisGeNET | Detail |
| To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or w... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Association of the PTPN22 R620W polymorphism with anti-topoisomerase I- and anticentromere antibody-... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with ele... | DisGeNET | Detail |
| The PTPN22 C1858T functional polymorphism and autoimmune diseases--a meta-analysis. | DisGeNET | Detail |
| The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene h... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase no... | DisGeNET | Detail |
| The aim of this study was to explore whether cytotoxic T lymphocyte antigen-4 (CTLA-4) +49 A/G, CT60... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| We genotyped SNPs rs3761847 and rs7021206 at the TRAF1/C5 locus and rs2476601 SNP in the PTPN22 gene... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A ... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoantibody status and radi... | DisGeNET | Detail |
| PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. | DisGeNET | Detail |
| The aim of this study was to assess whether the C1858T polymorphism of PTPN22 also confers increased... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid pro... | DisGeNET | Detail |
| The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-titin antibody-positive... | DisGeNET | Detail |
| Association analysis of the R620W polymorphism of protein tyrosine phosphatase PTPN22 in systemic lu... | DisGeNET | Detail |
| The aim of this study was to assess the possible association between the protein tyrosine phosphatas... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped in 753 patients with ... | DisGeNET | Detail |
| The aim of this study was to determine whether the protein tyrosine phosphatase nonreceptor 22 (PTPN... | DisGeNET | Detail |
| [Evaluating the role of the 620W allele of protein tyrosine phosphatase PTPN22 in Crohn\'s disease a... | DisGeNET | Detail |
| A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| PTPN22 C1858T and the risk of psoriasis: a meta-analysis. | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has consistently been re... | DisGeNET | Detail |
| [These data suggest that this LYP polymorphism is a susceptibility allele for Graves\' disease with ... | DisGeNET | Detail |
| PTPN22 C1858T polymorphism and the outcome of hepatitis C virus infection. | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (... | DisGeNET | Detail |
| Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. | DisGeNET | Detail |
| [ The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our... | DisGeNET | Detail |
| A common polymorphism (C1858T) in the gene that encodes the protein tyrosine phosphatase non-recepto... | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| Genotype, allele, and phenotype distributions of the PTPN22 C1858T variant revealed similar frequenc... | DisGeNET | Detail |
| Metaanalysis of the association of smoking and PTPN22 R620W genotype on autoantibody status and radi... | DisGeNET | Detail |
| A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (... | DisGeNET | Detail |
| A single nucleotide polymorphism of PTPN22, 1858C>T (rs2476601), disrupts an interaction motif in... | DisGeNET | Detail |
| The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Tr... | DisGeNET | Detail |
| Association of the PTPN22 R620W polymorphism with increased risk for SLE in the genetically homogene... | DisGeNET | Detail |
| Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorp... | DisGeNET | Detail |
| A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now ... | DisGeNET | Detail |
| To investigate a possible association between functional polymorphisms of the protein tyrosine phosp... | DisGeNET | Detail |
| Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene polymorphism with su... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preli... | DisGeNET | Detail |
| Evidence for PTPN22 R620W polymorphism as the sole common risk variant for rheumatoid arthritis in t... | DisGeNET | Detail |
| Some studies showed associations of the minor T allele of the C1858T single nucleotide polymorphism ... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| The PTPN22 C1858T gene variant is associated with proinsulin in new-onset type 1 diabetes. | DisGeNET | Detail |
| The CTLA-4 +49 A/G, CT60 A/G and PTPN22 1858 C/T polymorphisms and susceptibility to vitiligo: a met... | DisGeNET | Detail |
| The PTPN22 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the In... | DisGeNET | Detail |
| To analyse the relationship between the presence of auto-antibodies [rheumatoid factor (RF) and anti... | DisGeNET | Detail |
| The aim of this study was to use and compare three different definitions of interaction between the ... | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase no... | DisGeNET | Detail |
| Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. | DisGeNET | Detail |
| In contrast with a study of American patients with RA no evidence of association with PTPN22 indepen... | DisGeNET | Detail |
| A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now ... | DisGeNET | Detail |
| A common polymorphism (C1858T) in the gene that encodes the protein tyrosine phosphatase non-recepto... | DisGeNET | Detail |
| PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. | DisGeNET | Detail |
| [Together with recent evidence showing association of this SNP with type 1 diabetes and rheumatoid a... | DisGeNET | Detail |
| PTPN22 has emerged strongly as a genuine rheumatoid arthritis susceptibility gene with replications ... | DisGeNET | Detail |
| This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.... | DisGeNET | Detail |
| The results showed a remarkable pattern; PTPN22 C1858T was strongly associated with type I diabetes,... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| We highlight the pathogenic significance of the C1858T PTPN22 polymorphism in human autoimmunity wit... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. | DisGeNET | Detail |
| Significant differences were not observed in genotype or allele frequencies of PTPN22 C1858T in the ... | DisGeNET | Detail |
| Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto... | DisGeNET | Detail |
| The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene h... | DisGeNET | Detail |
| Fourth, at PTPN22, there was evidence for a novel contribution to T1D risk, independent of the repli... | DisGeNET | Detail |
| The association between the PTPN22 C1858T polymorphism and rheumatoid arthritis: a meta-analysis upd... | DisGeNET | Detail |
| The role of PTPN22 C1858T gene polymorphism in diabetes mellitus type 1: first evaluation in Greek c... | DisGeNET | Detail |
| Genetic influence of PTPN22 R620W polymorphism in tuberculosis. | DisGeNET | Detail |
| The association between the PTPN22 C1858T polymorphism and systemic lupus erythematosus: a meta-anal... | DisGeNET | Detail |
| A recent study reported associations of a series of single nucleotide polymorphisms (SNPs) within PT... | DisGeNET | Detail |
| This meta-analysis does not show that the PTPN22 C1858T polymorphism is associated with vasculitis s... | DisGeNET | Detail |
| TPOAbs status did not correlate with age at diagnosis of type 1 diabetes or with PTPN22 (Arg620Trp; ... | DisGeNET | Detail |
| A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PT... | DisGeNET | Detail |
| Interplay between PTPN22 C1858T polymorphism and cow's milk formula exposure in type 1 diabetes. | DisGeNET | Detail |
| A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. | DisGeNET | Detail |
| These results indicate that the PTPN22 gene polymorphism independent of the SNP rs2476601 might be a... | DisGeNET | Detail |
| The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene h... | DisGeNET | Detail |
| PTPN22 Variant R620W Is Associated With Reduced Toll-like Receptor 7-Induced Type I Interferon in Sy... | DisGeNET | Detail |
| The association between the functional PTPN22 1858 C/T and MIF -173 C/G polymorphisms and juvenile i... | DisGeNET | Detail |
| DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholin... | DisGeNET | Detail |
| Although the PTPN22 1858C/T variant has been reported to play a role in increasing the risk of vitil... | DisGeNET | Detail |
| R620W polymorphism of protein tyrosine phosphatase PTPN22 in Egyptian children and adolescents with ... | DisGeNET | Detail |
| The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus... | DisGeNET | Detail |
| The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene h... | DisGeNET | Detail |
| Considerable amount of evidences in the Caucasians have suggested the association of a missense sing... | DisGeNET | Detail |
| PTPN22 R620W polymorphism in the ANCA-associated vasculitides. | DisGeNET | Detail |
| The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classif... | DisGeNET | Detail |
| Lack of association of the PTPN22 gene polymorphism R620W with systemic sclerosis. | DisGeNET | Detail |
| Our data suggest that the PTPN22 C1858T single nucleotide polymorphism has no or minor effect on RA ... | DisGeNET | Detail |
| Among the genetic variants associated with type 1 diabetes, the C1858T (Lyp) polymorphism of the pro... | DisGeNET | Detail |
| The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped in 753 patients with ... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. | DisGeNET | Detail |
| The rs2476601-T allele at the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene has be... | DisGeNET | Detail |
| The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be assoc... | DisGeNET | Detail |
| To investigate a possible association between functional polymorphisms of the protein tyrosine phosp... | DisGeNET | Detail |
| The functional (R620W) variant of human PTPN22 (protein tyrosine phosphatase non-receptor 22) gene h... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| [Altogether, we have provided further evidence of an association between autoimmune diseases and the... | DisGeNET | Detail |
| A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PT... | DisGeNET | Detail |
| These results indicate that the PTPN22 gene polymorphism independent of the SNP rs2476601 might be a... | DisGeNET | Detail |
| [Altogether, we have provided further evidence of an association between autoimmune diseases and the... | DisGeNET | Detail |
| One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
| This meta-analysis showed the association between the T-allele and the T/T genotype and JIA (OR = 1.... | DisGeNET | Detail |
| PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. | DisGeNET | Detail |
| A missence single-nucleotide polymorphism (SNP) in the protein tyrosine phosphatase nonreceptor 22 (... | DisGeNET | Detail |
| The aim of this study was to determine whether the functional protein tyrosine phosphatase nonrecept... | DisGeNET | Detail |
| To assess whether combined evidence shows the association between the protein tyrosine phosphatase n... | DisGeNET | Detail |
| The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other au... | DisGeNET | Detail |
| PTPN22 gene polymorphism (C1858T) is associated with susceptibility to type 1 diabetes: a meta-analy... | DisGeNET | Detail |
| Because a functional PTPN22 polymorphism, C1858T, has been found to be associated with different aut... | DisGeNET | Detail |
| By contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, ... | DisGeNET | Detail |
| No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus ery... | DisGeNET | Detail |
| It was reported that a missense single nucleotide polymorphism , R620W (rs2476601), 1858C->T enco... | DisGeNET | Detail |
| Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene polymorphism with su... | DisGeNET | Detail |
| The R620W (1858C-->T) polymorphism in PTPN22 has been implicated in type 1 diabetes mellitus, rhe... | DisGeNET | Detail |
| To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or w... | DisGeNET | Detail |
| Among the genetic variants associated with type 1 diabetes, the C1858T (Lyp) polymorphism of the pro... | DisGeNET | Detail |
| The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the associatio... | DisGeNET | Detail |
| By contrast, PTPN22 C1858T showed a negligible association with systemic sclerosis, celiac disease, ... | DisGeNET | Detail |
| PTPN22 is involved in T-cell activation and its R620W single-nucleotide polymorphism (SNP) has been ... | DisGeNET | Detail |
| The CTLA-4 +49 A/G, CT60 A/G and PTPN22 1858 C/T polymorphisms and susceptibility to vitiligo: a met... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism and rheumatoid arthritis: a meta-analysis. | DisGeNET | Detail |
| REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk loc... | DisGeNET | Detail |
| TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PT... | DisGeNET | Detail |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | DisGeNET | Detail |
| R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility among Egypti... | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the associatio... | DisGeNET | Detail |
| [Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a fa... | DisGeNET | Detail |
| We checked for the prevalence of the PTPN22 R620W polymorphism in multiplex families affected with s... | DisGeNET | Detail |
| The R620W polymorphism in PTPN22 confers general susceptibility for the development of alopecia area... | DisGeNET | Detail |
| Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide as... | DisGeNET | Detail |
| The aim of this study was to determine whether the protein tyrosine phosphatase nonreceptor 22 (PTPN... | DisGeNET | Detail |
| No association of PTPN22 R620W gene polymorphism with rheumatic heart disease and systemic lupus ery... | DisGeNET | Detail |
| The non-synonymous C1858T substitution in the PTPN22 gene, which encodes lymphoid protein tyrosine p... | DisGeNET | Detail |
| [ We replicated the findings of a previous association with RA and identified a novel association wi... | DisGeNET | Detail |
| A functional variant (R620W) of the intracellular protein tyrosine phosphatase N22 (PTPN22) has now ... | DisGeNET | Detail |
| The PTPN22 1858C/T polymorphism has been associated with several autoimmune diseases including rheum... | DisGeNET | Detail |
| Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and prog... | DisGeNET | Detail |
| The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent m... | DisGeNET | Detail |
| The protein tyrosine phosphatase LYP, a key regulator of TCR signaling, presents a single nucleotide... | DisGeNET | Detail |
| Lymphoid tyrosine phosphatase (LYP/PTPN22) Arg620Trp variant regulates insulin autoimmunity and prog... | DisGeNET | Detail |
| A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negat... | DisGeNET | Detail |
| [These results suggest that individuals with increased genetic susceptibility to T2D have decreased ... | DisGeNET | Detail |
| The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 gene (PTPN22) confers... | DisGeNET | Detail |
| [PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases.] | DisGeNET | Detail |
| The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22... | DisGeNET | Detail |
| An increasing amount of epidemiologic investigations has associated the presence of the C1858T polym... | DisGeNET | Detail |
| A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes... | DisGeNET | Detail |
| The functional R620W (c.1858C>T) variant of the protein tyrosine phosphatase nonreceptor 22 gene ... | DisGeNET | Detail |
| [Altogether, we have provided further evidence of an association between autoimmune diseases and the... | DisGeNET | Detail |
| The association between the PTPN22 C1858T polymorphism and systemic sclerosis: a meta-analysis. | DisGeNET | Detail |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabete... | DisGeNET | Detail |
| The PTPN22 R620W polymorphism is associated with severe bacterial infections after human leukocyte a... | DisGeNET | Detail |
| The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in T... | DisGeNET | Detail |
| The association of a coding variant of the PTPN22 gene (R620W) with a number of autoimmune diseases ... | DisGeNET | Detail |
| Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic syst... | DisGeNET | Detail |
| The PTPN22 C1858T polymorphism is associated with skewing of cytokine profiles toward high interfero... | DisGeNET | Detail |
| An increasing amount of epidemiologic investigations has associated the presence of the C1858T polym... | DisGeNET | Detail |
| The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 ... | DisGeNET | Detail |
| A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Cau... | DisGeNET | Detail |
| The C1858T single nucleotide polymorphism in PTPN22, which is the gene encoding lymphoid tyrosine ph... | DisGeNET | Detail |
| We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. | DisGeNET | Detail |
| SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13or... | DisGeNET | Detail |
| The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleoti... | DisGeNET | Detail |
| In concordance with a previous data establishing PTPN22 1858 C/T SNP association with several autoim... | DisGeNET | Detail |
| [Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheum... | DisGeNET | Detail |
| Recently, the missense R620W polymorphism in the PTPN22 gene, which encodes lymphoid protein tyrosin... | DisGeNET | Detail |
| The R620W polymorphism in the protein-tyrosine-phosphatase nonreceptor type 22 gene (PTPN22) confers... | DisGeNET | Detail |
| Consistent interaction, defined as departure from additivity, between HLA-DRB1 SE alleles and the A ... | DisGeNET | Detail |
| Variant R620W of protein tyrosine phosphatase non-receptor type 22 (PTPN22) has consistently been re... | DisGeNET | Detail |
| A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in Caucasian population... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| An increasing amount of epidemiologic investigations has associated the presence of the C1858T polym... | DisGeNET | Detail |
| A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently repor... | DisGeNET | Detail |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. | DisGeNET | Detail |
| The aim of this study was to explore whether cytotoxic T lymphocyte antigen-4 (CTLA-4) +49 A/G, CT60... | DisGeNET | Detail |
| The missense PTPN22 C1858T polymorphism recently emerged as an important population-independent risk... | DisGeNET | Detail |
| Previous studies identified the functional polymorphism 1858C/T in the gene PTPN22 in association wi... | DisGeNET | Detail |
| The PTPN22 C1858T variant as a risk factor for rheumatoid arthritis and systemic lupus erythematosus... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... | DisGeNET | Detail |
| In survival analysis, 45% of general population DAISY children with PTPN22 rs2476601 TT or HLA-DR3/4... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
| After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... | DisGeNET | Detail |
| After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... | DisGeNET | Detail |
| After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... | DisGeNET | Detail |
| The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr1:114,377,568-114,377,568
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 101.97
- Standard deviation of sample read depth (HGVD)
- 44.45
- Number of reference allele (HGVD)
- 0
- Number of alternative allele (HGVD)
- 2420
- Allele Frequency (HGVD)
- 1.0
- Gene Symbol (HGVD)
- PTPN22
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2476601
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 8654
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 4327
- East Asian Allele Frequency (ExAC)
- 1.0
- Chromosome Counts in All Race (ExAC)
- 121404
- Allele Counts in All Race (ExAC)
- 113289
- Heterozygous Counts in All Race (ExAC)
- 7267
- Homozygous Counts in All Race (ExAC)
- 53011
- Allele Frequency in All Race (ExAC)
- 0.9331570623702679
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