Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.E318D
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C2

NM_000063.6:p.E318D

Associated Papers

Genetic Insights into Circulating Complement Proteins in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: A Potential Inflammatory Subgroup.

Maya J et al.

International Journal of Molecular Sciences, 2026

Genotypes of SNPs of key genes regulate susceptibility and drug sensitivity to neovascular AMD in the human population.

Cui J et al.

Bmj Open Ophthalmology, 2025

Family History of Age-Related Macular Degeneration and Genetics Predict Progression to Advanced Age-Related Macular Degeneration Adjusting for Macular Status, Demographic, and Lifestyle Factors.

Seddon JM et al.

American Journal of Ophthalmology, 2023

Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Ophthalmology Science, 2023

Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.

Seddon JM et al.

Frontiers in Genetics, 2023

Genetic variants affecting chemical mediated skin immunotoxicity.

Rodrigues de Souza I et al.

Journal of Toxicology and Environmental Health. Part B, Critical Reviews, 2022

Gene polymorphisms associated with an increased risk of exudative age-related macular degeneration in a Spanish population.

Gili P et al.

European Journal of Ophthalmology, 2022

Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.

Seddon JM et al.

Investigative Ophthalmology & Visual Science, 2020

33369641 (PubMed )
Supplement: iovs-61-14-32_s004.pdf

Gain-of-function mutation in complement C2 protein identified in a patient with aHUS.

Urban A et al.

The Journal of Allergy and Clinical Immunology, 2020

Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Merle BMJ et al.

Investigative Ophthalmology & Visual Science, 2020

Investigation of genetic base in the treatment of age-related macular degeneration.

Gourgouli K et al.

International Ophthalmology, 2020

The effect of complement factor B gene variation on age-related macular degeneration in Iranian patients.

Roshanipour N et al.

Journal of Current Ophthalmology, 2019

Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Akdeniz D et al.

Molecular Genetics & Genomic Medicine, 2019

Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

Seddon JM et al.

American Journal of Ophthalmology, 2019

Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.

Huang L et al.

Journal of Human Genetics, 2018

Genetic association of complement component 2 variants with chronic hepatitis B in a Korean population.

Namgoong S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2018

Association of ARMS2 genotype with response to anti-vascular endothelial growth factor treatment in polypoidal choroidal vasculopathy.

Park UC et al.

Bmc Ophthalmology, 2017

Identification of candidate protective variants for common diseases and evaluation of their protective potential.

Butler JM et al.

Bmc Genomics, 2017

Complement Polymorphisms in Kidney Transplantation: Critical in Graft Rejection?

Michielsen LA et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2017

Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study.

Merle BM et al.

The American Journal of Clinical Nutrition, 2016

Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study.

Merle BM et al.

The American Journal of Clinical Nutrition, 2015

Pathway-focused genetic evaluation of immune and inflammation related genes with chronic fatigue syndrome.

Rajeevan MS et al.

Human Immunology, 2015

Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.

Seddon JM et al.

Investigative Ophthalmology & Visual Science, 2015

[The genetic variability of complement system in pathogenesis of age-related macular degeneration].

Kubicka-Trząska A et al.

Klinika Oczna, 2015

Genetic variants in the complement system predisposing to age-related macular degeneration: a review.

Schramm EC et al.

Molecular Immunology, 2014

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration.

Cooke Bailey JN et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Genetic factors associated with response to intravitreal ranibizumab in Korean patients with neovascular age-related macular degeneration.

Park UC et al.

Retina (philadelphia, Pa.), 2014

Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.

Seddon JM et al.

Plos One, 2014

(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies.

Hutchinson JN et al.

Human Heredity, 2014

Age-related macular degeneration: insights into inflammatory genes.

Cascella R et al.

Journal of Ophthalmology, 2014

Pharmacogenetic associations with long-term response to anti-vascular endothelial growth factor treatment in neovascular AMD patients.

Park UC et al.

Molecular Vision, 2014

Re: "The association between complement component 2/complement factor B polymorphisms and age-related macular degeneration: a HuGE review and meta-analysis".

Hughes AE et al.

American Journal of Epidemiology, 2013

Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy.

Reynolds R et al.

Ophthalmology, 2013

A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.

Lu F et al.

Investigative Ophthalmology & Visual Science, 2013

Associations of the C2-CFB-RDBP-SKIV2L locus with age-related macular degeneration and polypoidal choroidal vasculopathy.

Liu K et al.

Ophthalmology, 2013

Rare inborn errors associated with chronic hepatitis B virus infection.

Zhao Q et al.

Hepatology (baltimore, Md.), 2012

Activation of the alternative complement pathway in vitreous is controlled by genetics in age-related macular degeneration.

Loyet KM et al.

Investigative Ophthalmology & Visual Science, 2012

Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration.

Lechanteur YT et al.

Investigative Ophthalmology & Visual Science, 2012

CFB/C2 gene polymorphisms and risk of age-related macular degeneration: a systematic review and meta-analysis.

Sun C et al.

Current Eye Research, 2012

Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.

Yu Y et al.

Investigative Ophthalmology & Visual Science, 2012

Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.

Kim SJ et al.

Experimental Eye Research, 2012

Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.

van de Ven JP et al.

Molecular Vision, 2012

Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.

Buentello-Volante B et al.

Molecular Vision, 2012

Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study.

Peter I et al.

American Journal of Ophthalmology, 2011

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

Keilhauer CN et al.

Ophthalmic Genetics, 2011

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.

Bitner H et al.

Investigative Ophthalmology & Visual Science, 2011

Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration.

Yu Y et al.

Investigative Ophthalmology & Visual Science, 2011

Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration.

Seddon JM et al.

Molecular Vision, 2010

Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration.

Reynolds R et al.

Ophthalmology, 2010

[Genetic factors associated with age-related macular degeneration].

Leveziel N et al.

Medecine Sciences : M/s, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."