| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.040 | GeneticVariation | BEFREE | The contribution of the C104R mutation to the B-cell defects observed in patients with common variable immunodeficiency therefore remains unclear. | 21458042 | 2011 |
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|
0.040 | GeneticVariation | BEFREE | These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation. | 18981294 | 2009 |
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|
0.040 | GeneticVariation | BEFREE | B cells from patients with common variable immunodeficiency (CVID) who are heterozygous for transmembrane activator and CAML interactor (TACI) mutation C104R, which abolishes ligand binding, fail to produce Igs in response to TACI ligand. | 17492055 | 2007 |
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|
0.040 | GeneticVariation | BEFREE | Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. | 16007087 | 2005 |
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|
0.030 | GeneticVariation | BEFREE | Phenotypic and clinical heterogeneity associated with monoallelic TNFRSF13B-A181E mutations in common variable immunodeficiency. | 20156508 | 2010 |
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|
0.030 | GeneticVariation | BEFREE | The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function. | 19605846 | 2009 |
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|
0.030 | GeneticVariation | BEFREE | Family members heterozygous with respect to the C104R mutation and individuals with sporadic common variable immunodeficiency who were heterozygous with respect to the amino acid substitutions A181E, S194X and R202H had humoral immunodeficiency. | 16007087 | 2005 |
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|
0.010 | GeneticVariation | BEFREE | Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. | 12850493 | 2004 |
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0.010 | GeneticVariation | BEFREE | Common variable immunodeficiency and IgG subclass deficiency in central Alabama hemochromatosis probands homozygous for HFE C282Y. | 12850493 | 2004 |