Disease: Giant Cell Arteritis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 GeneticVariation disease BEFREE Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobulin A vasculitis, have not benefitted by the great advantage of the large-scale genetic analyses yet, some interesting associations have been recently suggested, such as the classical functional PTPN22 allele rs2476601 (rs2476601" genes_norm="26191">R620W) with GCA. 25405820 2015
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 GeneticVariation disease BEFREE In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function. 25817017 2015
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 SusceptibilityMutation disease ORPHANET Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA. 23946333 2013
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 GeneticVariation disease BEFREE Our results suggest that the PTPN22 polymorphism rs2476601/rs2476601" genes_norm="26191">R620W plays an important role in the genetic risk to GCA. 23946333 2013
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 AlteredExpression disease LHGDN Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA. 16078327 2005
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis 		0.340 GeneticVariation disease BEFREE Our results do not support potential involvement of PTPN22 gene polymorphism in the susceptibility or clinical expression of GCA. 16078327 2005