Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | Crohn's disease is also caused by mutations in the gene encoding NOD2 but the mechanisms behind Crohn's disease development in XIAP and NOD2 deficient-patients are still unknown. | 29743550 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We found XIAP to be significantly enriched for rare coding mutations in patients with CD vs controls (P = .02). | 29501442 | 2018 | ||||
|
0.080 | Biomarker | disease | BEFREE | Recent work has consistently shown XIAP to be critical for signaling downstream of the Crohn's disease susceptibility protein nucleotide-binding oligomerization domain-containing 2 (NOD2); however, the reported effects of XLP-2 and VEO-IBD XIAP mutations on cell death have been inconsistent. | 28404814 | 2017 | ||||
|
0.080 | Biomarker | disease | BEFREE | Children with XIAP-related XLP-2 may present with either familial hemophagocytic lymphohistiocytosis, often triggered in response to EBV infection, or with a treatment-refractory severe pediatric form of inflammatory bowel disease (IBD) that might be diagnosed as Crohn disease. | 27416006 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Our results demonstrate the frequent occurrence of private variants in XIAP in about four percent of male patients with paediatric-onset CD. | 24572142 | 2015 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The main clinical features of XLP-2 are (i) elevated susceptibility to hemophagocytic lymphohistiocytosis (HLH, frequently in response to infection with Epstein-Barr virus (EBV)), (ii) recurrent splenomegaly and (iii) inflammatory bowel disease (IBD) with the characteristics of Crohn's disease. | 25737324 | 2015 | ||||
|
0.080 | Biomarker | disease | BEFREE | Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers. | 24942515 | 2014 | ||||
|
0.080 | Biomarker | disease | BEFREE | X-linked inhibitor of apoptosis was not previously associated with Crohn disease but has a central role in the proinflammatory response and bacterial sensing through the NOD signaling pathway. | 21173700 | 2011 |