| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.710 | GeneticVariation | BEFREE | Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene). | 27111338 | 2016 |
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|
G | 0.710 | GeneticVariation | CLINVAR | Prospective enterprise-level molecular genotyping of a cohort of cancer patients. | 25157968 | 2014 |
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G | 0.710 | GeneticVariation | CLINVAR | Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. | 23676790 | 2013 |
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G | 0.710 | GeneticVariation | CLINVAR | F317L BCR-ABL1 kinase domain mutation associated with a sustained major molecular response in a CML patient on dasatinib. | 21489624 | 2011 |
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G | 0.710 | GeneticVariation | CLINVAR | Major molecular response achieved with dasatinib in a CML patient with F317L BCR-ABL kinase domain mutation. | 19811824 | 2010 |
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G | 0.710 | GeneticVariation | CLINVAR | High incidence of BCR-ABL kinase domain mutations and absence of mutations of the PDGFR and KIT activation loops in CML patients with secondary resistance to imatinib. | 14745431 | 2004 |
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G | 0.710 | GeneticVariation | CLINVAR | Detection of BCR-ABL mutations in patients with CML treated with imatinib is virtually always accompanied by clinical resistance, and mutations in the ATP phosphate-binding loop (P-loop) are associated with a poor prognosis. | 12623848 | 2003 |
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G | 0.710 | GeneticVariation | CLINVAR | Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. | 12399961 | 2002 |