Source: CLINVAR

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness. 21841778

2011

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Specific interaction between genotype, smoking and autoimmunity to citrullinated alpha-enolase in the etiology of rheumatoid arthritis. 19898480

2010

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2010

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Cutting edge: the PTPN22 allelic variant associated with autoimmunity impairs B cell signaling. 19265110

2009

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792

2008

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. 18301444

2008

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Investigation of genetic variation across the protein tyrosine phosphatase gene in patients with rheumatoid arthritis in the UK. 17170052

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. 17554300

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Genetic variation in PTPN22 corresponds to altered function of T and B lymphocytes. 17878369

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. 17436241

2007

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. 16273109

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): association between a promoter polymorphism and type 1 diabetes in Asian populations. 16470599

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients. 16339849

2006

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. 15580548

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. 15744042

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. 15719322

2005

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. 15004560

2004

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. 15208781

2004

dbSNP: rs2476601
rs2476601
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
1.000 SusceptibilityMutation CLINVAR Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. 15273934

2004

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR The MUC5B variant is associated with idiopathic pulmonary fibrosis but not with systemic sclerosis interstitial lung disease in the European Caucasian population. 23940607

2014

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR Mucin 5B promoter polymorphism is associated with idiopathic pulmonary fibrosis but not with development of lung fibrosis in systemic sclerosis or sarcoidosis. 23321605

2013

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR Association between the MUC5B promoter polymorphism and survival in patients with idiopathic pulmonary fibrosis. 23695349

2013

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR MUC5B promoter polymorphism and interstitial lung abnormalities. 23692170

2013

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR A variant in the promoter of MUC5B and idiopathic pulmonary fibrosis. 21506748

2011

dbSNP: rs35705950
rs35705950
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
1.000 GeneticVariation CLINVAR A common MUC5B promoter polymorphism and pulmonary fibrosis. 21506741

2011