Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE ETV6/RUNX1 was found in 45% of cases and in the majority (10/18; 56%) of ALLs with sole +21. 16965388 2006
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 AlteredExpression disease BEFREE The TEL-AML1 fusion protein of acute lymphoblastic leukemia modulates IRF3 activity during early B-cell differentiation. 25893288 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Here we show that variant alleles of TLX1_rs2742038 and ETV6_rs1573613 were associated with increased risk of childhood ALL (OR (95% CI) = 3.97 (1.43-11.02) and 1.9 (1.16-3.11), respectively), while PML_rs9479 was associated with decreased ALL risk (OR = 0.55 (0.36-0.86). 24886876 2014
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Previous studies on concordant acute lymphoblastic leukemia (ALL) in identical twins have identified the leukemia as monoclonal with MLL or ETV6-RUNX1 gene fusion as early or initiating events in utero. 12800152 2003
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE The ETV6/CBFA2 (TEL/AML1) fusion gene occurs as a result of the chromosome translocation t(12;21)(p13;q22) in up to 30% of children diagnosed with B cell precursor (cd10+, cd19+) acute lymphoblastic leukemia. 9050885 1997
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE This study identifies deletions of TBL1XR1 as a recurrent abnormality in ETV6-RUNX1 positive ALL. 18767146 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 AlteredExpression disease BEFREE BCR-ABL1, TCF3-PBX1, KMT2A-AFF1 and ETV6-RUNX1 were more frequent in B-ALL. 30125757 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Co-existence of multiple subclones in TEL-AML1 at diagnosis of acute lymphoblastic leukaemia in association with submicroscopic deletion of AML1. 15877731 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Translocation (2;8)(p12;q24) associated with a cryptic t(12;21)(p13;q22) TEL/AML1 gene rearrangement in a child with acute lymphoblastic leukemia. 11106815 2000
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE This study was aimed to explore the METTL3 and METTL14 expressions in children with ETV6/RUNX1(E/R)-positive acute lymphoblastic leukemia (ALL) and investigate the relation between the METTL3 and METTL14 expressions with clinical features. 31429529 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE This novel SNP array analysis in an extremely rare series of cases opens new ideas about the etiology of ETV6-RUNX1-positive ALL. 19665068 2009
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE We previously cloned the PAX5/TEL fusion gene in a patient affected by B-cell precursor ALL with a t(9;12) translocation. 18172310 2008
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Intermediate and late relapses were more common in TEL-AML1(+) patients and other BCP-ALLs compared with other subgroups (P = 0.018). 22911440 2012
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Two recently described molecular abnormalities in childhood ALL are ETV6 gene rearrangements and homozygous deletions of p16(INK4A) and/or p15(INK4B). 9204978 1997
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE Common CNAs involved CDKN2A/2B (30.3%), IKZF1 (27.3%), PAX5 (9.1%), RB1 (9.1%), BTG1 (6.7%), and ETV6 (6.7%), which regulate cell cycle, B lymphopoiesis, or act as tumor suppressors in ALL. 31112375 2019
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Minimal residual disease monitoring in childhood B lymphoblastic leukemia with t(12;21)(p13;q22); ETV6-RUNX1: concordant results using quantitation of fusion transcript and flow cytometry. 28004528 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Constitutional trisomy 21 is the most prominent predisposing factor to childhood leukemia, whereas the t(12;21)(p13;q22) with its molecular genetic counterpart, the TEL/AML1 fusion gene, is the most common acquired chromosomal rearrangement in childhood B-cell precursor (BCP) acute lymphoblastic leukemia (ALL). 16020107 2005
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Finally, we reviewed the literature for ETV6 germline aberrations and predispositions to ALL. 29034503 2018
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Recurrent genetic abnormalities in B-lymphoblastic leukemia with prognostic significance are well known and specifically delineated in the WHO 2008 classification (eg hyperdiploidy, t(9;22)(q34;q11.2); BCR-ABL1, t(12;21)(p13;q22); ETV6-RUNX1). 21822204 2011
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE These data provide novel insight into the natural history of childhood leukemia and suggest that consequent to a prenatal initiation of a leukemic clone, most probably by TEL-AML fusion itself, the latency of ALL can be both extremely variable and protracted. 10419898 1999
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 25807284 2015
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE By assessing the expression of 82 genes involved in purine metabolism (KEGG pathway database) in ALL blasts from 38 patients with B-lineage ALL (14 with TEL-AML1, 24 without), we identified 16 genes that were differentially expressed in TEL-AML1-positive and TEL-AML1-negative ALL (P <.001, false discovery rate [FDR] = 5%). 15142881 2004
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Comparative incidence of the rearrangements of TEL/AML1 and ALL1 genes in pediatric precursor B acute lymphoblastic leukemias in India. 9824651 1998
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 Biomarker disease BEFREE Role of the TEL-AML1 fusion gene in the molecular pathogenesis of childhood acute lymphoblastic leukaemia. 15156184 2004
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.200 GeneticVariation disease BEFREE Thus we conclude that the TEL allele not involved in t(12;21) is inconstantly lost in patients with this subtype of ALL and occurs on the 12p- chromosome. 8558923 1996