Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Age and the T allele of ARMS2 A69S are the risk factors requiring retreatments, leading to poor visual change in eyes with exudative AMD following the initial 3-monthly IVR. 29045945 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD patients. 29087762 2018
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Regression analysis showed that ARMS2 TT genotype has a statistically significant effect on RAP versus AMD compared to CFH genotypes (P < 0.001). 28005184 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE In conclusion, we confirm that ARMS2, HTRA1 and CFH variants are associated with neovascular AMD in the Thai population. 28703135 2017
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD (n=316) was strongly associated with CFH (p=1.78×10(-7)) and ARMS2 genotypes (p=1.67×10(-8)). 26614632 2016
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 (p = 0.029), CFH rs800292 (p = 0.013) and genetic risk score calculated from 11 AMD susceptibility genes (p = 3.8 × 10(-3)). 26542071 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE The risk alleles C in CFH rs1061170 (p < 0.0001, Pearson chi-square) and T in ARMS2 rs10490924 (p < 0.0001), as well as smoking (p < 0.0001), were more prevalent in AMD patients compared with controls. 26154559 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Association between variants A69S in ARMS2 gene and response to treatment of exudative AMD: a meta-analysis. 25185256 2015
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE After adjusting for age, gender, ARMS2 A69S, and CFHI62V, the A allele of rs429608 was significantly protective against neovascular AMD (odds ratio [OR] 0.24, 95% confidence interval [CI] 0.122-0.484, p < 0.001), PCV (OR 0.43, 95% CI 0.262-0.704, p = 0.001), RAP (OR 0.09, 95% CI 0.014-0.581, p = 0.011). 24865191 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients. 23534868 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001). 24362810 2014
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD patients with risk variants at rs1061170 (rs1061170" genes_norm="3075">CFH:p.Y402H) and ARMS2 and smokers (≥20 packs/year) were significantly earlier affected by AMD than those carrying the non-risk variants at each locus. 23103884 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD-associated variants at the chromosome 10q26 locus and the stability of ARMS2 transcripts. 23942973 2013
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE A risk allele of ARMS2 A69S was more frequently seen in patients with bilateral AMD (P = .0270) than in those with unilateral AMD. 22809783 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE CFH, ARMS2 and HTRA1 genotypes may influence patient response to treatment with intravitreal bevacizumab for neovascular AMD. 22594510 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE After adjusting for rs11200638, ARMS2 rs10490924 remained significantly associated with exudative AMD (P = 0.011), but not with PCV (P = 0.077). 22491416 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE After ranibizumab treatment, AMD patients without risk alleles in the CFH and ARMS2 genes (4.8%) demonstrated a mean VA improvement of 10 Early Treatment Diabetic Retinopathy Study (ETDRS) letters, whereas no VA improvement was observed in AMD patients with 4 CFH and ARMS2 risk alleles (6.9%; P = 0.014). 22840423 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients. 22552255 2012
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. 21252205 2011
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Results were then integrated into a meta-analysis of previous studies representing an assessment of the association between the ARMS2 A69S variant and neovascular AMD and/or PCV, comprising a total of 3,828 subjects of Asian descent. 22219653 2011
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE We identified a sample of patients with neovascular AMD, that in previous studies had been shown to be at elevated risk for the disease through environmental factors such as cigarette smoking and genetic variants including the complement factor H gene (CFH) on chromosome 1q25 and variants in the ARMS2/HtrA serine peptidase 1 (HTRA1) gene(s) on chromosome 10q26. 21682878 2011
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. 19933195 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 20238042 2010
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD donors carrying the ARMS2 and HTRA1 risk alleles were the most likely to exhibit elevated CEP markers. 19202148 2009
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II
0.100 GeneticVariation disease BEFREE AMD is a complex disorder caused by genetic and environmental factors in which single nucleotide polymorphisms (SNPs) in the genes CFH and LOC387715/HTRA1/ARMS2 have prognostic importance for progression to advanced AMD (with visual loss). 19015224 2009