|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
The SNP rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a risk for AMD development, and therefore could be used to identify AMD patients who would benefit most from complement-inhibiting therapies.
|
29398083 |
2018 |
|
Age related macular degeneration
|
0.420 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Analysis of variants in complement genes in Han Chinese children with atypical hemolytic uremic syndrome].
|
28822440 |
2017 |
|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
|
23326517 |
2013 |
|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods.
|
22125219 |
2011 |
|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |
|
Age related macular degeneration
|
0.420 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association analyses of genetic, phenotypic, and environmental risks in the age-related eye disease study.
|
21197116 |
2010 |
|
Age related macular degeneration
|
0.420 |
Biomarker
|
disease |
BEFREE |
Haplotype analysis supported our findings of single SNP association, demonstrating that the most significant haplotype, GATAGTTCTC, spanning CFH, CFHR4, and CFHR2 was associated with the greatest risk of developing neovascular AMD (P < 10-6).
|
18541031 |
2008 |
|
Age related macular degeneration
|
0.420 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Complement deficiency disease
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Eczema
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Maculopapular Lesion
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
|
29288229 |
2018 |
|
Blood Protein Measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Co-regulatory networks of human serum proteins link genetics to disease.
|
30072576 |
2018 |
|
Hemopexin measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Connecting genetic risk to disease end points through the human blood plasma proteome.
|
28240269 |
2017 |
|
Coagulation factor measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
|
23381943 |
2013 |
|
von Willebrand's factor (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
|
23381943 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
We hypothesize that, in this patient, hyperoxaluria caused by the GRHPR genetic defect triggered endothelial perturbation and complement activation, which was amplified by impaired factor H regulatory activity due to the increased -CFHR1-CFHR4 copy numbers, resulting in aHUS.
|
30889567 |
2019 |
|
Lupus Erythematosus, Systemic
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Significant allelic associations with SLE were detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, P(meta) = 6.6×10(-8), OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, P(meta) = 2.9×10(-7), OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E.
|
21637784 |
2011 |
|
Glycogen storage disease type II
|
0.010 |
Biomarker
|
disease |
BEFREE |
Haplotype analysis supported our findings of single SNP association, demonstrating that the most significant haplotype, GATAGTTCTC, spanning CFH, CFHR4, and CFHR2 was associated with the greatest risk of developing neovascular AMD (P < 10-6).
|
18541031 |
2008 |