Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | UNIPROT | Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. | 21458306 | 2011 |
||||
|
0.710 | GeneticVariation | BEFREE | Three patients with two novel mutations (R337Q and P339A) and the previously reported L76QfsX53 developed classic IPEX syndrome and died within the first 13 months. | 18931102 | 2009 |
||||
|
0.710 | GeneticVariation | UNIPROT | Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. | 18951619 | 2008 |
||||
|
0.710 | GeneticVariation | UNIPROT | Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). | 11768393 | 2001 |
||||
|
0.710 | GeneticVariation | UNIPROT | X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. | 11137992 | 2001 |
||||
|
0.710 | GeneticVariation | UNIPROT | The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. | 11137993 | 2001 |
||||
|
0.710 | GeneticVariation | UNIPROT | JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. | 11120765 | 2000 |