Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
0.740 GeneticVariation BEFREE This meta-analysis shows a significant association between PTPN22 R620W polymorphism and MG risk. 26318187 2015
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
0.740 GeneticVariation BEFREE DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). 25119822 2014
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
0.740 GeneticVariation GWASDB Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08. 23055271 2012
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
0.740 GeneticVariation BEFREE We conclude that the common autoimmune polymorphism PTPN22 1858C/T may account for disease susceptibility in a subset of nonthymoma MG patients with anti-titin antibodies present. 19406179 2009
Myasthenia Gravis
CUI: C0026896
Disease: Myasthenia Gravis
0.740 GeneticVariation BEFREE PTPN22 R620W promotes production of anti-AChR autoantibodies and IL-2 in myasthenia gravis. 18533277 2008