Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells. | 28778586 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | We characterized the cellular and molecular impact of the most common IPEX mutation, p.A384T, on patient-derived T<sub>reg</sub> cells. | 28783662 | 2017 |
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|
T | 0.700 | CausalMutation | CLINVAR | The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. | 11137993 | 2001 |