C3, complement C3, 718

N. diseases: 343; N. variants: 49
Source: ALL
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
0.700 GeneticVariation disease GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (rs800292" genes_norm="3075">I62V variant in CFH), rs10490924 (rs10490924;s10490924" genes_norm="387715;717">A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (rs2230199" genes_norm="5654;718">R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB). 29801032 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE Association between genetic variation of complement C3 and the susceptibility to advanced age-related macular degeneration: a meta-analysis. 30352574 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE While significant but modest associations were identified between the complement factor H, the age-related maculopathy susceptibility protein 2, and the complement component 3 single nucleotide polymorphisms and AD, these were different in direction or genetic model to that observed in AMD. 22300950 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE In this study, we investigated the associations of haplotype-tagging single nucleotide polymorphisms (SNPs) in the complement component 3 (C3) gene with both neovascular AMD and PCV, and potential epistatic effects on C3. 25388911 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease LHGDN Complement C3 variant and the risk of age-related macular degeneration. 17634448 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease LHGDN Our study showed a significant association between variants in the C3 gene and AMD and further highlights the crucial role of the complement pathway in the etiology of AMD. 19168221 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease CTD_human Variation in complement factor 3 is associated with risk of age-related macular degeneration. 17767156 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease CTD_human Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. 24036952 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial. 31474439 2020
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease CTD_human Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 24036949 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE Complement C3, C2, and factor B gene polymorphisms and age-related macular degeneration in a Greek cohort study. 24519512 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE Joint association of complement component 3 and CC-cytokine ligand2 (CCL2) or complement component 3 and CFH polymorphisms in age-related macular degeneration. 28095095 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease CTD_human A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration. 24036950 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE Systematic review and meta-analysis of the association between complement component 3 and age-related macular degeneration: a HuGE review and meta-analysis. 21576320 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease BEFREE Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort. 20157618 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker disease LHGDN Variation in complement factor 3 is associated with risk of age-related macular degeneration. 17767156 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 AlteredExpression disease BEFREE Estimation of systemic complement C3 activity in age-related macular degeneration. 17420372 2007