Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 GeneticVariation disease BEFREE PTPN22 R620W SNP was genotyped in a cohort of 344 AAV patients [143 with granulomatosis with polyangiitis (Wegener's) (GPA), 102 with microscopic polyangiitis (MPA) and 99 with Churg-Strauss syndrome (CSS)] and in 945 healthy controls. 22237046 2012
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 SusceptibilityMutation disease ORPHANET The protein tyrosine phosphatase nonreceptor 22 C1858T polymorphism and vasculitis: a meta-analysis. 22696186 2012
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 SusceptibilityMutation disease ORPHANET Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. 22508400 2012
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 GeneticVariation disease BEFREE This meta-analysis does not show that the PTPN22 C1858T polymorphism is associated with vasculitis susceptibility, but does show that this polymorphism is associated with susceptibility to AAV, WG, and ANCA status in WG. 22696186 2012
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 GeneticVariation disease BEFREE The PTPN22 620W allele appears to be involved in the pathogenesis of WG, and ANCA positivity seems to be the hallmark. 16320352 2005
CUI: C3495801
Disease: Granulomatosis with polyangiitis
Granulomatosis with polyangiitis
0.330 GeneticVariation disease LHGDN The PTPN22 620W allele is a risk factor for Wegener's granulomatosis. 16320352 2005