ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 Biomarker disease CTD_human Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. 25807284 2015
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 Biomarker disease CTD_human RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. 24413735 2014
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 AlteredExpression disease BEFREE Interestingly, we found that human FMN2 is overexpressed in approximately 95% of pre-B acute lymphoblastic leukemia with the highest expression levels in patients with a TEL/AML1 rearrangement. 21135260 2011
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 Biomarker disease CTD_human Translocation t(12;21) is related to in vitro cellular drug sensitivity to doxorubicin and etoposide in childhood acute lymphoblastic leukemia. 15217836 2004
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 Biomarker disease BEFREE The IgH, TCR and TEL-AML1 markers can be used as targets by real-time PCR under the same cycling profile, allowing quantitation of MRD in more 95% of patients with pre-B ALL. 12571459 2003
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		0.330 Biomarker disease BEFREE Rearrangements in intron 5 of ETV6 were found in eight of nine cases of children with c-ALL of which six carried the ETV6/AMLI fusion. 9665196 1998