C2, complement C2, 717

N. diseases: 71; N. variants: 39
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
0.680 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
0.680 Biomarker disease BEFREE To evaluate the contribution of genetic variants of complement factor H (CFH), complement component 2 and 3 (C2 and C3), complement factor B (CFB), and age-related maculopathy susceptibility 2 (ARMS2) to age-related macular degeneration (AMD) risk in the Mexican Mestizo population. 24453474 2014
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease GWASDB Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis. 23577725 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 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
0.680 GeneticVariation disease BEFREE To determine whether genetic variants in the complement component 2 and factor B gene (C2/CFB) locus are associated with the risk for typical age-related macular degeneration (AMD) or polypoidal choroidal vasculopathy (PCV) in a Japanese population. 22232432 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 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
0.680 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
0.680 Biomarker disease BEFREE The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration. 19696172 2010
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 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
0.680 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
0.680 GeneticVariation disease BEFREE No association with AMD was found for SNP rs9332739 (E318D) in the C2 gene or for rs4151667 (L9H), rs1048709 (R150R), rs4151659 (K565E), or rs2072633 (IVS17) in the BF gene. 18806293 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease BEFREE Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. 18806297 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease LHGDN Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration. 18806297 2009
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease BEFREE Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)). 17576744 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 Biomarker disease LHGDN Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)). 17576744 2007
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 GeneticVariation disease BEFREE We screened factor B (BF) and complement component 2 (C2) genes, located in the major histocompatibility complex class III region, for genetic variation in two independent cohorts comprising approximately 900 individuals with AMD and approximately 400 matched controls. 16518403 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 Biomarker disease CTD_human We screened factor B (BF) and complement component 2 (C2) genes, located in the major histocompatibility complex class III region, for genetic variation in two independent cohorts comprising approximately 900 individuals with AMD and approximately 400 matched controls. 16518403 2006
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.680 Biomarker disease GENOMICS_ENGLAND