Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE AS patients with PA showed an earlier age of disease onset (p=0.021), longer disease duration (p=0.020) and longer duration of AS symptoms from onset (p=0.034) than AS patients without PA. We found significant associations with the presence of PA at disease onset in 14 SNPs located in 10 genes: HLA-DQB2 (rs2857210 and rs9276615), HLA-DOB (rs2857151, rs2621332 and rs1383261), JAK2 (rs7857730), IL-23R (rs11209008 and rs10489630), CYP1B1 (rs1056836), NELL1 (rs8176786), KL (rs564481), and MEFV (rs224204), IL-2RB (rs743777) and IL-1A (rs1800587). 30299251 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. 30946743 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease GWASCAT Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. 30946743 2019
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE But no significant differences were detected in either genotype or allele distributions between case and control groups for the polymorphism rs11466023 (P > .05).MEFV gene polymorphism rs3743930 might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS. 30557972 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE Large based population studies are needed to further assess the existence of MEFV gene mutations among AS patients and their effect on the clinical course of the disease in addition to assessment of AS prevalence in patients with FMF. 28982344 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. 28800602 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE Our results are the first to suggest that the M694V allele of the pyrin was associated with AS risk in the Chinese Han population and that this mutation may be associated with the inflammatory response in the development of AS. 25036284 2014
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE Our study suggests that a) factors other than HLA-B27 play a role in the association of FMF and SpA/AS; b) MEFV gene variations may be one of the geographic/region-specific potential pathogenetic links between these two disorders in the Turkish population. 23356447 2013
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE The results of this study suggest that MEFV gene mutations are positively associated with a predisposition to develop AS. 22960328 2012
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE FMF-related MEFV variations are associated with AS, and these variations may contribute to the pathogenesis of AS, especially in populations in which the prevalence of FMF is high. 20669279 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE We found an increased frequency of MEFV variants in AS patients as compared with healthy controls and with RA patient controls. 20533539 2010
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE Twenty-four of the AS patients (30%) and 17 of the healthy controls (20%) were found to carry a single MEFV mutation. 19119044 2009
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.200 GeneticVariation disease BEFREE The rate and significance of Mediterranean fever gene mutations in patients with ankylosing spondylitis: a three-month, longitudinal clinical study. 18597091 2008