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 BEFREE Genotyping was performed for AMD risk polymorphisms associated with age-related maculopathy susceptibility 2 (ARMS2), high-temperature requirement factor A1 (HTRA1), complement factor H (CFH), and complement C3. 20238042 2010
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 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 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 BEFREE Genotyping was performed for AMD risk polymorphisms associated with age-related maculopathy susceptibility 2 (ARMS2), high temperature requirement factor A1 (HTRA1), complement factor H, and complement C3, and the risk of AMD was predicted based on genotype alone or in combination with the CEP markers. 19202148 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE 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 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 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 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 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 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 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 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 GeneticVariation disease BEFREE Subjects were analyzed for single nucleotide polymorphisms in factor H (CFH), factor B-C2 (BF-C2) and complement C3 (C3) genes which were previously found to be associated with AMD. 18596911 2008
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 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 AlteredExpression disease BEFREE Estimation of systemic complement C3 activity in age-related macular degeneration. 17420372 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE Genetic loci (complement factor H [CFH], complement factor B [CFB], the age-related maculopathy susceptibility 2 locus containing the hypothetical gene [LOC387715]/the high-temperature requirement A-1 [HTRA1], and complement component 3 [C3]) that were already known to be associated with AMD were identified. 21197116 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease BEFREE To investigate whether the previously reported noncoding variant of the complement factor H (CFH) gene and two coding variants of the complement component 3 (C3) gene are associated with exudative age-related macular degeneration (AMD) in Chinese patients. 19850835 2010
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: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency
0.630 Biomarker disease BEFREE The occurrence of an immune complex-like disease (with characteristics of the HCVS) in a patient with a familial deficiency of C3 suggests that the preexisting C3 deficiency may predispose such persons to certain diseases. 7369233 1980
CUI: C1332655
Disease: Complement component 3 deficiency
Complement component 3 deficiency
0.630 Biomarker disease BEFREE The current studies were undertaken to characterize the cDNA for wild-type canine C3 and identify the molecular basis for hereditary canine C3 deficiency. 9510185 1998