rs121913454, ABL1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.710 GeneticVariation CLINVAR Detection of BCR-ABL kinase domain mutations in patients with chronic myeloid leukemia on imatinib. 23676790 2013
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.710 GeneticVariation CLINVAR Major molecular response achieved with dasatinib in a CML patient with F317L BCR-ABL kinase domain mutation. 19811824 2010
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
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
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.710 GeneticVariation CLINVAR Molecular and chromosomal mechanisms of resistance to imatinib (STI571) therapy. 12399961 2002
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
0.010 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