rs121913453, ABL1

N. diseases: 1
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
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 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
0.700 GeneticVariation CLINVAR Early detection and quantification of mutations in the tyrosine kinase domain of chimerical BCR-ABL1 gene combining high-resolution melting analysis and mutant-allele specific quantitative polymerase chain reaction. 22870928 2013
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 GeneticVariation CLINVAR The ABL switch control inhibitor DCC-2036 is active against the chronic myeloid leukemia mutant BCR-ABLT315I and exhibits a narrow resistance profile. 21505103 2011
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 GeneticVariation CLINVAR Use of direct sequencing for detection of mutations in the BCR-ABL kinase domain in Slovak patients with chronic myeloid leukemia. 21895409 2011
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 GeneticVariation CLINVAR Mutations in ABL kinase domain are associated with inferior progression-free survival. 20367437 2010
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
0.700 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
0.700 GeneticVariation CLINVAR High frequency of point mutations clustered within the adenosine triphosphate-binding region of BCR/ABL in patients with chronic myeloid leukemia or Ph-positive acute lymphoblastic leukemia who develop imatinib (STI571) resistance. 11964322 2002