Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | GeneticVariation | CLINVAR | Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura. | 26117626 | 2015 |
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|
A | 0.710 | GeneticVariation | CLINVAR | Correlating interleukin-12 stimulated interferon-γ production and the absence of ectodermal dysplasia and anhidrosis (EDA) in patients with mutations in NF-κB essential modulator (NEMO). | 24682681 | 2014 |
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|
A | 0.710 | GeneticVariation | CLINVAR | We describe here 2 EDA-ID-causing missense mutations that affect the same residue in the CC2-LZ domain (D311N and D311G) that do not impair NEMO production or folding. | 21622647 | 2011 |
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|
0.710 | GeneticVariation | BEFREE | We describe here 2 EDA-ID-causing missense mutations that affect the same residue in the CC2-LZ domain (D311N and D311G) that do not impair NEMO production or folding. | 21622647 | 2011 |
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|
A | 0.710 | GeneticVariation | CLINVAR | Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. | 18851874 | 2008 |
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|
A | 0.710 | GeneticVariation | CLINVAR | IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease. | 16950813 | 2007 |
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|
A | 0.710 | GeneticVariation | CLINVAR | Mutations in the NF-kappaB signaling pathway: implications for human disease. | 17072331 | 2006 |
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|
A | 0.710 | GeneticVariation | CLINVAR | The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. | 16532398 | 2006 |
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|
A | 0.710 | GeneticVariation | CLINVAR | X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. | 16818673 | 2006 |
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|
A | 0.710 | GeneticVariation | CLINVAR | NEMO mutations in 2 unrelated boys with severe infections and conical teeth. | 15833888 | 2005 |