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 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
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 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 GWASDB Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
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 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 GeneticVariation disease GWASCAT Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation disease GWASCAT Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. 20861866 2010
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 GeneticVariation disease GWASCAT Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). 20385826 2010
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 LHGDN C3 R102G polymorphism increases risk of age-related macular degeneration. 18325906 2008
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 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 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 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 GeneticVariation disease GWASDB Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 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 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 GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
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