Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE CFH and ARMS2 risk alleles do not modify the response to the AREDS2 nutrient supplements with respect to the progression to late AMD (GA and neovascular AMD). 31358387 2019
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Patients with GA were significantly older, with a higher prevalence of reticular pseudodrusen, bilateral involvement of advanced AMD and T-allele frequency of ARMS2 A69S compared with those with typical AMD and PCV; although there were no differences in the genetic and clinical characteristics among patients with GA and RAP. 26918864 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE The ARMS2 variant rs10490924 was significantly more frequent in dt-GA than in 1000G individuals (Pcorrected < 0.01). 27149696 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Odds ratios, especially for the main risk polymorphisms in ARMS2 (rs10490924) and CFH (rs1061170), gained with increasing disease severity and bilateralism (exemplarily: rs1061170: unilateral early AMD: OR = 1.18; bilateral early AMD: OR = 1.20; unilateral intermediate AMD: OR = 1.28; bilateral intermediate AMD: OR = 1.39, unilateral geographic atrophy (GA): OR = 1.50; bilateral GA: OR = 1.71). 27257685 2016
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Analyzing the currently largest dataset on GA lesion growth (N = 388), our findings suggest a significant and independent contribution of three factors on GA lesion growth including at least two genetic factors (ARMS2_rs10490924 [P < 0.00088] and C3_rs2230199 [P < 0.00015]) as well as one clinical component (presence of GA in the fellow eye [P < 0.00023]). 25962167 2015
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Early AMD lesion characteristics were assessed for association with GA incidence using eye-specific data and generalized estimating equation models adjusting for age, current smoking, and presence of risk alleles of the complement factor H (CFH) or age-related maculopathy susceptibility 2 (ARMS2) genes, genotyped or imputed using genome-wide scan data. 23706948 2013
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE DHA was not associated with reduced risk of GA among those with the homozygous ARMS2/HTRA1 nonrisk genotype (HR, 1.0; P = 0.90). 23481534 2013
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Smoking status and ARMS2 genotype had less of an impact on the prediction of GA compared with CNV. 23523162 2013
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and GA incidence (CFH: Y402H), the inclusion of genetic factors in the models provided only marginal improvements in predictive performance. 22704140 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE In this series, in patients with geographic atrophy or choroidal neovascularization in at least 1 eye, the ARMS2 A69S substitution strongly associated with geographic atrophy or choroidal neovascularization in the fellow eye. 22481475 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 Biomarker disease BEFREE The genes CFH, C3, CFB, and ARMS2/HTRA1 were associated with progression from intermediate drusen to large drusen and from large drusen to GA or NV. 22247473 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease GWASCAT Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE The frequency of the T allele of ARMS2/HTRA1 rs10490924 was significantly higher in participants with CNV than in those with geographic atrophy (OR, 1.37; 95% confidence interval, 1.21-1.54; P value = 4.2 × 10(-7)). 21122828 2011
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE For the single nucleotide polymorphism rs10490924 in LOC387715/ARMS2, there was a significant association of GA growth rate, both adjusted and unadjusted for initial lesion size, with the homozygous risk genotype as compared with the homozygous nonrisk genotype (unadjusted P = 0.002; Bonferroni-corrected P = 0.014) and for allelic association (Bonferroni-corrected P value = 0.011). 20381870 2010
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 Biomarker disease BEFREE This study confirms that variants at CFH, C3, and ARMS2 confer significant risks for GA due to AMD. 19823576 2009
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy
0.200 GeneticVariation disease BEFREE We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs10490924 (6.6 kb upstream of HTRA1 in LOC387715/ARMS2) in 333 cases with advanced AMD (choroidal neovascularization [CNV] and geographic atrophy) and 171 age-matched examined controls. 18682806 2008