Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker BEFREE Complement C3 Inhibitor Pegcetacoplan for Geographic Atrophy Secondary to Age-Related Macular Degeneration: A Randomized Phase 2 Trial. 31474439

2020

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Increased risk of RPD formation is conveyed by genetic variants known to increase risk of AMD development, including complement factor H, age-related maculopathy susceptibility 2, and high-temperature requirement A serine peptidase 1; however, to date, no genetic factor has been found to predispose to RPD independent of those that carry risks for AMD. 30298528

2019

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Before the AMD clinical phenotype is present, those showing normal macular health with the ARMS2 A69S allele demonstrate delayed RMDA. 30389424

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1) is the most common inherited macular dystrophy. 31318848

2019

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE CFH and ARMS2 risk alleles do not modify the response to the AREDS2 nutrient supplements with respect to the progression to late AMD (GA and neovascular AMD). 31358387

2019

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown. 30696427

2019

Entrez Id: 629
Gene Symbol: CFB
CFB
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort. 30895599

2019

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population. 30895599

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. 30563929

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy. 31618812

2019

Entrez Id: 629
Gene Symbol: CFB
CFB
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Collectively, we demonstrated that the complement factor B genes rs641153 and rs4151667, but not rs1048709, rs2072633, rs12614, were associated with the susceptibility of age-related macular degeneration and might play predictive roles in future age-related macular degeneration diagnosis. 30974970

2019

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker BEFREE Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4-mediated Stargardt Macular Dystrophy. 30634128

2019

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Sub-analysis demonstrated that women with ARMS2 A69S polymorphisms had a stronger risk for early AMD (OR: 3.25, 95% CI: 2.10-5.04) than men (OR: 1.65, 95% CI: 1.02-2.69). 29335418

2018

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Blood samples from all subjects were genotyped for major age-related macular degeneration (AMD)-associated single nucleotide polymorphisms (SNPs) the major AMD-associated SNPs; CFH Y402H rs1061170, CFH rs800292" genes_norm="3075;5362">I62V rs800292, ARMS2 rs10490924" genes_norm="387715">A69S rs10490924. 30596689

2018

Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644

2018

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD patients. 29087762

2018

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation 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

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Age and the T allele of ARMS2 A69S are the risk factors requiring retreatments, leading to poor visual change in eyes with exudative AMD following the initial 3-monthly IVR. 29045945

2018

Entrez Id: 629
Gene Symbol: CFB
CFB
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018. 30179527

2018

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene. 29461686

2018

Entrez Id: 629
Gene Symbol: CFB
CFB
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE We identified four previously reported susceptibility loci showing genome-wide significant association with AMD progression: ARMS2-HTRA1 (P = 8.1 × 10-43), CFH (P = 3.5 × 10-37), C2-CFB-SKIV2L (P = 8.1 × 10-10) and C3 (P = 1.2 × 10-9). 29346644

2018

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE This interaction is opposite in direction to that observed in AMD, where patients with 2 CFH and 0 ARMS2 risk alleles had increased progression to neovascular AMD if treated with 80 mg/day of zinc. 30320589

2018

Entrez Id: 387715
Gene Symbol: ARMS2
ARMS2
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation BEFREE Incident early AMD was associated with cardiovascular disease history (HR 1.59, 95% CI 1.04-2.45), underweight body mass index (BMI) (HR 3.12, 95% CI 1.37-7.14) (BMI of <18.5 vs 18.51-25 kg/m2), heavy alcohol drinking (HR 3.14 95% CI 1.25-7.89) and ARMS2 rs3750847 homozygous genetic loci carrier (HR 2.52, 95% CI 1.59-3.99). 29891972

2018

Entrez Id: 629
Gene Symbol: CFB
CFB
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 GeneticVariation 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

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.700 Biomarker BEFREE Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. 29310964

2018