| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | BEFREE | Combined knockdown of SLPI by shRNA and transduction of ELANE p.S126L in myeloid cells led to elevated levels of ATF6, PPP1R15A and HSPA5 RNA, suggesting that normal levels of SLPI in CyN patients might protect them from the UPR induced by mutant ELANE. | 26567890 | 2016 |
||||
|
0.810 | GeneticVariation | UNIPROT | The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia. | 23463630 | 2013 |
||||
|
T | 0.810 | GeneticVariation | CLINVAR | Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. | 18611981 | 2008 |
|||
|
T | 0.810 | GeneticVariation | CLINVAR | Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. | 14962902 | 2004 |
|||
|
0.810 | GeneticVariation | UNIPROT | Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. | 14962902 | 2004 |
||||
|
0.810 | GeneticVariation | UNIPROT | A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia. | 14673143 | 2004 |
||||
|
0.810 | GeneticVariation | UNIPROT | Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. | 11001877 | 2000 |
||||
|
0.810 | GeneticVariation | UNIPROT | Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. | 10581030 | 1999 |
||||
|
T | 0.810 | CausalMutation | CLINVAR |