1. |
The role of PTPN22 gene polymorphism in childhood immune thrombocytopenic purpura. |
Anis SK, etal., Blood Coagul Fibrinolysis. 2011 Sep;22(6):521-5.
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2. |
Multiplex family-based study in systemic lupus erythematosus: association between the R620W polymorphism of PTPN22 and the FcgammaRIIa (CD32A) R131 allele. |
Balada E, etal., Tissue Antigens. 2006 Nov;68(5):432-8.
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3. |
The association of the PTPN22 620W polymorphism with Behcet's disease. |
Baranathan V, etal., Ann Rheum Dis. 2007 Nov;66(11):1531-3. Epub 2007 Jul 27.
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4. |
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. |
Barrett JC, etal., Nat Genet. 2008 Aug;40(8):955-62. Epub 2008 Jun 29.
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5. |
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. |
Begovich AB, etal., Am J Hum Genet. 2004 Aug;75(2):330-7. Epub 2004 Jun 18.
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6. |
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. |
Bottini N, etal., Nat Genet. 2004 Apr;36(4):337-8. Epub 2004 Mar 7.
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7. |
PTPN22 polymorphism presumably plays a role in the genetic background of chronic spontaneous autoreactive urticaria. |
Brzoza Z, etal., Dermatology. 2012;224(4):340-5. doi: 10.1159/000339332. Epub 2012 Jun 19.
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8. |
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. |
Canton I, etal., Genes Immun. 2005 Oct;6(7):584-7.
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9. |
High basal activity of the PTPN22 gain-of-function variant blunts leukocyte responsiveness negatively affecting IL-10 production in ANCA vasculitis. |
Cao Y, etal., PLoS One. 2012;7(8):e42783. doi: 10.1371/journal.pone.0042783. Epub 2012 Aug 3.
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10. |
The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients. |
Chinoy H, etal., Arthritis Rheum. 2008 Oct;58(10):3247-54. doi: 10.1002/art.23900.
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11. |
The PTPN22gain-of-function+1858T(+) genotypes correlate with low IL-2 expression in thymomas and predispose to myasthenia gravis. |
Chuang WY, etal., Genes Immun. 2009 Dec;10(8):667-72. Epub 2009 Aug 20.
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12. |
Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. |
Criswell LA, etal., Am J Hum Genet. 2005 Apr;76(4):561-71. Epub 2005 Feb 17.
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13. |
A disease-associated PTPN22 variant promotes systemic autoimmunity in murine models. |
Dai X, etal., J Clin Invest. 2013 May 1;123(5):2024-36. doi: 10.1172/JCI66963. Epub 2013 Apr 24.
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14. |
Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis. |
Diaz-Gallo LM, etal., Ann Rheum Dis. 2011 Mar;70(3):454-62. Epub 2010 Dec 3.
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15. |
Protein tyrosine phosphatase non-receptor type 22 gene variants at position 1858 are associated with type 1 and type 2 diabetes in Estonian population. |
Douroudis K, etal., Tissue Antigens. 2008 Nov;72(5):425-30. Epub 2008 Aug 26.
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16. |
Novel associations for hypothyroidism include known autoimmune risk loci. |
Eriksson N, etal., PLoS One. 2012;7(4):e34442. Epub 2012 Apr 6.
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17. |
Recipient PTPN22 -1123 C/C genotype predicts acute graft-versus-host disease after HLA fully matched unrelated bone marrow transplantation for hematologic malignancies. |
Espinoza JL, etal., Biol Blood Marrow Transplant. 2013 Feb;19(2):240-6. doi: 10.1016/j.bbmt.2012.09.014. Epub 2012 Sep 28.
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18. |
PTPN22 controls virally-induced autoimmune diabetes by modulating cytotoxic T lymphocyte responses in an epitope-specific manner. |
Fousteri G, etal., Clin Immunol. 2015 Feb;156(2):98-108. doi: 10.1016/j.clim.2014.12.002. Epub 2014 Dec 13.
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19. |
PTPN22 C1858T polymorphism in women with endometriosis. |
Gomes FM, etal., Am J Reprod Immunol. 2010 Mar 1;63(3):227-32. Epub 2010 Jan 12.
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20. |
PTPN22 C1858T polymorphism in Colombian patients with autoimmune diseases. |
Gomez LM, etal., Genes Immun. 2005 Oct;6(7):628-31.
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21. |
Lack of association of a functional single nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with susceptibility to biopsy-proven giant cell arteritis. |
Gonzalez-Gay MA, etal., J Rheumatol. 2005 Aug;32(8):1510-2.
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22. |
Genetic evidence of PTPN22 effects on chronic lymphocytic leukemia. |
Hebbring SJ, etal., Blood. 2013 Jan 3;121(1):237-8. doi: 10.1182/blood-2012-08-450221.
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23. |
Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. |
Hinks A, etal., Arthritis Rheum. 2005 Jun;52(6):1694-9.
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24. |
Genetic analysis of adult-onset autoimmune diabetes. |
Howson JM, etal., Diabetes. 2011 Oct;60(10):2645-53. Epub 2011 Aug 26.
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25. |
No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjogren's syndrome. |
Ittah M, etal., Genes Immun. 2005 Aug;6(5):457-8.
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26. |
Association between the PTPN22 +1858 C/T polymorphism and psoriatic arthritis. |
Juneblad K, etal., Arthritis Res Ther. 2011 Mar 16;13(2):R45.
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27. |
The non-synonymous C1858T substitution in the PTPN22 gene is associated with susceptibility to the severe forms of alopecia areata. |
Kemp EH, etal., Hum Immunol. 2006 Jul;67(7):535-9. Epub 2006 May 4.
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28. |
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. |
Laberge GS, etal., Pigment Cell Melanoma Res. 2008 Apr;21(2):206-8. doi: 10.1111/j.1755-148X.2008.00443.x.
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29. |
Association of PTPN22 gene functional variants with development of pulmonary tuberculosis in Moroccan population. |
Lamsyah H, etal., Tissue Antigens. 2009 Sep;74(3):228-32. Epub 2009 Jun 25.
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30. |
Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22. |
Li Y, etal., J Invest Dermatol. 2009 Mar;129(3):629-34. doi: 10.1038/jid.2008.297. Epub 2008 Oct 16.
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31. |
No impact of PTPN22, PTPRJ and ACP1 genes polymorphisms on the risk of immune thrombocytopenia in French adult patients. |
Lioger B, etal., Thromb Res. 2016 Aug;144:76-8. doi: 10.1016/j.thromres.2016.04.013. Epub 2016 Apr 25.
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32. |
Association of a functional polymorphism of PTPN22 encoding a lymphoid protein phosphatase in bilateral Meniere's disease. |
Lopez-Escamez JA, etal., Laryngoscope. 2010 Jan;120(1):103-7. doi: 10.1002/lary.20650.
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33. |
Association of Protein Tyrosine Phosphatase Nonreceptor 22 (PTPN22) C1858T gene polymorphism with susceptibility to autoimmune thyroid diseases: a meta-analysis. |
Luo L, etal., Endocr J. 2012 Feb 25.
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34. |
MGDs mouse GO annotations |
MGD data from the GO Consortium
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35. |
MGD IEA |
MGD IEA
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36. |
PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes. |
Namjou B, etal., PLoS One. 2013 Aug 7;8(8):e69404. doi: 10.1371/journal.pone.0069404. eCollection 2013.
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37. |
Overexpression of the autoimmunity-associated phosphatase PTPN22 promotes survival of antigen-stimulated CLL cells by selectively activating AKT. |
Negro R, etal., Blood. 2012 Jun 28;119(26):6278-87. doi: 10.1182/blood-2012-01-403162. Epub 2012 May 8.
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38. |
OMIM Disease Annotation Pipeline |
OMIM Disease Annotation Pipeline
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39. |
A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. |
Orru V, etal., Hum Mol Genet. 2009 Feb 1;18(3):569-79. doi: 10.1093/hmg/ddn363. Epub 2008 Nov 3.
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40. |
ClinVar Automated Import and Annotation Pipeline |
RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
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41. |
Data Import for Chemical-Gene Interactions |
RGD automated import pipeline for gene-chemical interactions
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42. |
The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples. |
Rodriguez-Rodriguez L, etal., Arthritis Rheum. 2011 Feb;63(2):365-72. doi: 10.1002/art.30145.
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43. |
Atherosclerosis and PTPN22: a study in coronary artery disease. |
Saccucci P, etal., Cardiology. 2011;119(1):54-6. Epub 2011 Aug 12.
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44. |
A functional polymorphism of Ptpn22 is associated with type 1 diabetes in the BioBreeding rat. |
Sarmiento J, etal., J Immunol. 2015 Jan 15;194(2):615-29. doi: 10.4049/jimmunol.1302689. Epub 2014 Dec 12.
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45. |
Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis. |
Serrano A, etal., Ann Rheum Dis. 2013 Nov 1;72(11):1882-6. doi: 10.1136/annrheumdis-2013-203641. Epub 2013 Aug 14.
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46. |
Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. |
Skinningsrud B, etal., Eur J Hum Genet. 2008 Aug;16(8):977-82. Epub 2008 Feb 27.
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47. |
Polymorphisms in the PTPN22 region are associated with psoriasis of early onset. |
Smith RL, etal., Br J Dermatol. 2008 May;158(5):962-8. doi: 10.1111/j.1365-2133.2008.08482.x. Epub 2008 Mar 13.
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48. |
Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. |
Smyth D, etal., Diabetes. 2004 Nov;53(11):3020-3.
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49. |
Preliminary evidence for interaction of PTPN12 polymorphism with TSHR genotype and association with Graves' ophthalmopathy. |
Syed AA, etal., Clin Endocrinol (Oxf). 2007 Nov;67(5):663-7. Epub 2007 Jul 3.
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50. |
Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. |
Wang K, etal., Hum Mol Genet. 2010 May 15;19(10):2059-67. doi: 10.1093/hmg/ddq078. Epub 2010 Feb 22.
|
51. |
Database resources of the National Center for Biotechnology Information. |
Wheeler DL, etal., Nucleic Acids Res 2001 Jan 1;29(1):11-6.
|
52. |
Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population. |
Wipff J, etal., Ann Rheum Dis. 2006 Sep;65(9):1230-2. Epub 2006 Feb 7.
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53. |
Expression of peptidylarginine deiminase 4 and protein tyrosine phosphatase nonreceptor type 22 in the synovium of collagen-induced arthritis rats. |
Xu YB, etal., Chin Med Sci J. 2014 Jun;29(2):85-90.
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54. |
[Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD]. |
Yu ZY, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2008 Aug;24(8):804-7.
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55. |
The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete. |
Zervou MI, etal., Genet Test Mol Biomarkers. 2010 Feb;14(1):107-11. doi: 10.1089/gtmb.2009.0130.
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56. |
No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations. |
Zhang Q, etal., PLoS One. 2012;7(3):e31230. doi: 10.1371/journal.pone.0031230. Epub 2012 Mar 2.
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57. |
Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population. |
Zhebrun D, etal., Aging (Albany NY). 2011 Apr;3(4):368-73.
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58. |
Meta-analysis reveals an association of PTPN22 C1858T with autoimmune diseases, which depends on the localization of the affected tissue. |
Zheng J, etal., Genes Immun. 2012 Dec;13(8):641-52. doi: 10.1038/gene.2012.46. Epub 2012 Oct 18.
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