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 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 GeneticVariation disease GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644 2018
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 Association of polymorphisms in complement component 3 with age-related macular degeneration in an Iranian population. 27029644 2017
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 GeneticVariation disease BEFREE Association of rare variants in the CFH, CFI, C9, and C3 genes with AMD, serum levels of corresponding proteins, and C3b degradation ability of CFH and CFI variant carriers. 27918759 2017
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND A Familial C3GN Secondary to Defective C3 Regulation by Complement Receptor 1 and Complement Factor H. 26471127 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE The association between the rs2230199 C>G single nucleotide polymorphism (SNP) in complement component 3 and age-related macular degeneration (AMD) risk has been examined extensively but the results are not consistent among studies. 26505407 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE Based on the search criteria for manuscripts reporting AMD susceptibility related to CC3 in nine SNPs, 57 case-control studies from 22 different articles were retrieved. 25688879 2015
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 GeneticVariation disease BEFREE To explore whether additional rare variants in the C3 gene are associated with AMD, we sequenced all coding exons in 84 unrelated AMD cases. 24736606 2014
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 GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE PPARGC1A influences activation of the AMD-associated complement component 3 (C3) promoter fragment and CFB influences activation and proteolysis of C3. 23335958 2013
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 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 GeneticVariation disease GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
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 GeneticVariation disease GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
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 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 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 GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011