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 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 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 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 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 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 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 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 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 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 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 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
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. 18796626 2008
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 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 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 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 GeneticVariation disease LHGDN Complement C3 variant and the risk of age-related macular degeneration. 17634448 2007
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 GermlineCausalMutation disease ORPHANET Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264 2005
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND Molecular analysis of a novel hereditary C3 deficiency with systemic lupus erythematosus. 15781264 2005
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 GeneticVariation disease UNIPROT Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion. 7961791 1994
COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 Biomarker disease GENOMICS_ENGLAND Homozygous deficiency of C3 in a patient with repeated infections. 4117597 1972