Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | Polyubiquitin binding to ABIN1 is required to prevent autoimmunity. | 21606507 | 2011 |
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|
0.700 | GeneticVariation | UNIPROT | Structural basis for recognition of diubiquitins by NEMO. | 19185524 | 2009 |
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|
0.700 | GeneticVariation | UNIPROT | Sensing of Lys 63-linked polyubiquitination by NEMO is a key event in NF-kappaB activation [corrected]. | 16547522 | 2006 |
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|
0.700 | GeneticVariation | UNIPROT | The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. | 15100680 | 2004 |
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|
0.700 | GeneticVariation | UNIPROT | Sequential modification of NEMO/IKKgamma by SUMO-1 and ubiquitin mediates NF-kappaB activation by genotoxic stress. | 14651848 | 2003 |
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|
0.700 | GeneticVariation | UNIPROT | Deficient natural killer cell cytotoxicity in patients with IKK-gamma/NEMO mutations. | 12045264 | 2002 |
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|
0.700 | GeneticVariation | UNIPROT | X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. | 11242109 | 2001 |
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|
0.700 | GeneticVariation | UNIPROT | Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. | 11224521 | 2001 |
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|
0.700 | GeneticVariation | UNIPROT | A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). | 11047757 | 2000 |