|
Malaria
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
DUP4 is a complex structural genomic variant that carries extra copies of a glycophorin A-glycophorin B fusion gene and has a dramatic effect on malaria risk by reducing the risk of severe malaria by up to 40%.
|
30388403 |
2018 |
|
Malaria
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
By contrast, we observed an allele frequency spectrum skewed toward a significant excess of intermediate-frequency alleles at GYPA exon 2 in many populations; the degree of spectrum distortion is correlated with malaria exposure, possibly because of the joint effects of gene conversion and balancing selection.
|
21664997 |
2011 |
|
Skin Neoplasms
|
0.310 |
GeneticVariation
|
group |
BEFREE |
Total GPA variant frequency in arsenic-exposed patients bearing skin tumors was significantly increased compared to patients without skin tumors (167 versus 290).
|
17029826 |
2006 |
|
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
|
29403010 |
2018 |
|
Platelet Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Monocyte count procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Red cell distribution width determination
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Mean Corpuscular Volume (result)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Monocyte count result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
Tumor Cell Invasion
|
0.100 |
GeneticVariation
|
phenotype |
BEFREE |
The protease-resistant properties of the erythrocyte receptor suggests that it is not glycophorin A or C. Additionally, analysis of mutant erythrocytes from humans has shown that EBA140 does not bind glycophorin B. Interestingly, we have identified a parasite line that lacks the eba140 gene, suggesting that this protein is not essential for in vitro invasion.
|
11454199 |
2001 |
|
RDW - Red blood cell distribution width result
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Granulomatosis with polyangiitis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Cases and controls were matched for AAV (granulomatosis with polyangiitis [GPA], microscopic polyangiitis [MPA] or eosinophilic granulomatosis with polyangiitis [EGPA]), sex and year of enrollment.
|
29180123 |
2018 |
|
Granulomatosis with polyangiitis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
The central role of autoimmunity has been confirmed by the significant association with HLA polymorphisms; interestingly, the three main AAV subtypes are associated with distinct HLA variants, i.e. granulomatosis with polyangiitis (Wegener's GPA) with HLA-DP1, microscopic polyangiitis with HLA-DQ and eosinophilic GPA (Churg-Strauss) with HLA-DRB4.
|
25523449 |
2015 |
|
Granulomatosis with polyangiitis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Granulomatosis with polyangiitis (GPA, formerly Wegener's granulomatosis) is a multisystem vasculitis of small- to medium-sized blood vessels.
|
29716529 |
2018 |
|
Granulomatosis with polyangiitis
|
0.090 |
GeneticVariation
|
disease |
BEFREE |
Overall, metaanalysis showed a statistically significant association between the A allele and ANCA disease in all subjects (OR 1.44, 95% CI 1.26-1.64, p < 0.00001), and stratification by disease category indicated the A allele was associated with granulomatosis with polyangiitis (Wegener's; GPA; OR 1.72, 95% CI 1.35-2.20, p < 0.0001) and microscopic polyangiitis (MPA; OR 1.53, 95% CI 1.08-2.15, p = 0.02) as compared to controls.
|
25448792 |
2015 |
|
Malignant Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
The findings obtained in the present study suggest that the GPA mutant frequency may reflect the cancer risk among people exposed to radiation.
|
8677297 |
1996 |
|
Malignant Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
First, a large fraction of GPA and HLA mutations show exchanges due to homologous recombination, an important mutational event in cancer.
|
8319611 |
1993 |
|
Malignant Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
Knowing that the cellular events allowing the detection of mutations at the HPRT and the GPA locus differ, our results emphasize the possible correlation between events of spontaneous loss of heterozygosity and genetic predisposition to cancer as observed in FA.
|
7689157 |
1993 |
|
Malignant Neoplasms
|
0.070 |
GeneticVariation
|
group |
BEFREE |
The focus is on: (a) inter-individual variations in sensitivity to radiation-induced somatic mutations (glycophorin A (GPA) mutations) and their potential relevance to differences in susceptibility to radiation-related cancers and (b) the role of specific mutations/rearrangements in radiation-induced thyroid and colorectal cancers.
|
18406659 |
2008 |
|
Primary malignant neoplasm
|
0.050 |
GeneticVariation
|
group |
BEFREE |
Knowing that the cellular events allowing the detection of mutations at the HPRT and the GPA locus differ, our results emphasize the possible correlation between events of spontaneous loss of heterozygosity and genetic predisposition to cancer as observed in FA.
|
7689157 |
1993 |
|
Primary malignant neoplasm
|
0.050 |
GeneticVariation
|
group |
BEFREE |
First, a large fraction of GPA and HLA mutations show exchanges due to homologous recombination, an important mutational event in cancer.
|
8319611 |
1993 |
|
Primary malignant neoplasm
|
0.050 |
GeneticVariation
|
group |
BEFREE |
The findings obtained in the present study suggest that the GPA mutant frequency may reflect the cancer risk among people exposed to radiation.
|
8677297 |
1996 |
|
Microscopic Polyarteritis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Overall, metaanalysis showed a statistically significant association between the A allele and ANCA disease in all subjects (OR 1.44, 95% CI 1.26-1.64, p < 0.00001), and stratification by disease category indicated the A allele was associated with granulomatosis with polyangiitis (Wegener's; GPA; OR 1.72, 95% CI 1.35-2.20, p < 0.0001) and microscopic polyangiitis (MPA; OR 1.53, 95% CI 1.08-2.15, p = 0.02) as compared to controls.
|
25448792 |
2015 |