Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Therefore, the results of our study and meta-analysis suggest that SERPING1 is not a major genetic component of AMD or PCV in East Asians but is a genetic risk factor for AMD in Caucasians, providing evidence for an ethnic diversity in the genetic etiology of AMD. 25800435 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE The current meta-analysis shows that the SERPING1 rs2511989 polymorphism may have a positive effect on the risk of AMD, especially among Caucasians. 25352749 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE Including genetic variation in the model shows that one significant SNP (rs2649663) 5' of the SERPING1 gene is associated with C1inh levels though this SNP is not associated with AMD. 21852020 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE To determine whether there is an association between CFH, ARMS2, HTRA1, VEGF, SERPING1 or C3 genotypes and patient response to treatment with intravitreal bevacizumab for neovascular age-related macular degeneration (AMD). 22594510 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE With the sample size of our study, no relationship was found for AMD and the SNPs tested in complement 3 (C3); serpin peptidase inhibitor, clade G, member 1 (SERPING1); vascular endothelial growth factor (VEGF); cholesterol ester transfer protein (CETP); lipoprotein lipase (LPL); hepatic lipase (LIPC); and metallopeptidase inhibitor 3 (TIMP3) genes. 22618592 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE Although we compared the genotypic distributions of rs2511989 in typical AMD and PCV patients against 2 independent control groups (cataract patients and healthy Japanese individuals), SERPING1 rs2511989 was not significantly associated with typical AMD (P = 0.932 and 0.513, respectively) or PCV (P = 0.505 and 0.141, respectively). 21526158 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Several variants in the complement cascade genes (complement factor H [CFH], C2, C3, CFB, and Serping1) have been reported to associate with age-related macular degeneration (AMD). 20122735 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE SERPING1 SNPs rs1005510 and rs2511989 were significantly associated with neovascular AMD in our cohort, with rs1005510 conferring an adverse risk effect (OR 1.49, 95% CI 1.18 to 1.88) and rs2511989 conferring a protective effect (OR 0.73, 95% CI 0.59 to 0.90). 20606025 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE Our risk model includes six SNPs in CFH, C3, HTRA1 and SERPING1, showing independent effects, which together account for 45% of risk of developing AMD (p=1.65×10(-50)) with a combined population attributable risk of 87%. 20576771 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population. 20062564 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE Evaluation of haplotypes across SERPING1 did not reveal association with AMD (p=0.14-0.97). 19169411 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 Biomarker disease BEFREE In a small number of eyes (n = 7 AMD and n = 7 control) AMD affection status was correlated with increased abundance of choroidal C1INH. 19607829 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.100 GeneticVariation disease BEFREE The SNP variant rs2511989, located within intron six of the SERPING1 gene, showed highly significant genotypic association with age-related macular degeneration (uncorrected p=4.0x10(-5), corrected p=0.00372). 18842294 2008