| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.010 | GeneticVariation | BEFREE | Cells harbouring the ATG16L1 T300A allele associated with inflammatory bowel disease were also found to accumulate cholesterol and be defective in repair, linking a common inflammatory disease to plasma membrane integrity. | 30478389 | 2018 |
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0.010 | GeneticVariation | BEFREE | The most common Parkinson's disease (PD) mutation is the gain-of-function LRRK2 G2019S variant, which has also been linked to inflammatory disease states. | 28893563 | 2018 |
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0.010 | GeneticVariation | BEFREE | Both patients carrying the p.A382T mutation had an atypical phenotype, one of them manifesting signs suggestive of a cerebellar involvement, and the other presenting neuroradiological findings suggestive of an inflammatory disorder of the central nervous system. | 22752089 | 2013 |
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0.010 | GeneticVariation | BEFREE | Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses. | 21606346 | 2011 |
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0.010 | GeneticVariation | BEFREE | Inflammatory disease protective R381Q IL23 receptor polymorphism results in decreased primary CD4+ and CD8+ human T-cell functional responses. | 21606346 | 2011 |
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0.010 | GeneticVariation | BEFREE | Arg753Gln TLR-2 polymorphism in familial mediterranean fever: linking the environment to the phenotype in a monogenic inflammatory disease. | 17013994 | 2006 |
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0.010 | GeneticVariation | BEFREE | A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder? | 14679589 | 2004 |
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0.010 | GeneticVariation | BEFREE | We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the NALP3 variant V200M (also designated V198M), and evaluated the response of their inflammatory disease to treatment with the recombinant human IL-1 receptor antagonist anakinra. | 14872505 | 2004 |