CBFB, core-binding factor subunit beta, 865

N. diseases: 76; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.330 GeneticVariation disease UNIPROT
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C0242596
Disease: Neoplasm, Residual
Neoplasm, Residual 		0.050 GeneticVariation phenotype BEFREE Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion. 12139724 2002
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma 		0.020 Biomarker disease BEFREE Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature. 16504290 2006
CUI: C3164096
Disease: Sarcoma of mesentery
Sarcoma of mesentery 		0.010 Biomarker disease BEFREE Granulocytic sarcoma of mesentery in acute myeloid leukemia with CBFB/MYH11 fusion gene but not inv(16) chromosome: case report and review of literature. 16504290 2006
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 GeneticVariation disease BEFREE AML with the CBFB/MYH11 fusion gene but without inv(16) was found in M2, M4, and M5, but not in M4E patients. 17052753 2007
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.030 GeneticVariation disease BEFREE AML with the CBFB/MYH11 fusion gene but without inv(16) was found in M2, M4, and M5, but not in M4E patients. 17052753 2007
CUI: C1533174
Disease: Acute myeloid leukemia, inv(16)(p13q22)
Acute myeloid leukemia, inv(16)(p13q22) 		0.020 GeneticVariation disease BEFREE Acute myeloid leukemia with inv(16) with CBFB-MYH11, 3'CBFB deletion, variant t(9;22) with BCR-ABL1, and del(7)(q22q32) in a pediatric patient: case report and literature review. 20513535 2010
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 GeneticVariation disease BEFREE Acute myeloid leukemia with cryptic CBFB-MYH11 type D. 23236551 2013
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
Core binding factor acute myeloid leukemia 		0.020 GeneticVariation disease BEFREE Core Binding Factor acute myeloid leukemia (CBF-AML) with t(8;21) RUNX1-MTG8 or inv(16) CBFB-MYH11 fusion proteins often show upregulation of wild type or mutated KIT receptor. 25612891 2015
CUI: C3839741
Disease: Core binding factor acute myeloid leukemia
Core binding factor acute myeloid leukemia 		0.020 GeneticVariation disease BEFREE Core-binding factor acute myeloid leukemia (CBF-AML) is defined by the presence of either t(8;21)(q22;q22)/RUNX1-RUNX1T1 or inv(16)(p13.1q22)/t(16;16)(p13.1;q22)/CBFB-MYH11. 27843138 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 GeneticVariation disease BEFREE AML with CBFB-MYH11, RUNX1-RUNX1T1, mutated NPM1, and FLT3-ITD were excluded and accrued to genotype-specific trials. 30728457 2019
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		0.030 GeneticVariation disease BEFREE AML with CBFB-MYH11, RUNX1-RUNX1T1, mutated NPM1, and FLT3-ITD were excluded and accrued to genotype-specific trials. 30728457 2019
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE CBFB is associated with human leukemias through a chromosome 16 inversion and is essential for definitive hematopoiesis during mouse embryo development. 11110689 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.100 PosttranslationalModification disease BEFREE PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis. 18695000 2008
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 Biomarker disease BEFREE CBFB and MYH11 in inv(16)(p13q22) of acute myeloid leukemia displaying close spatial proximity in interphase nuclei of human hematopoietic stem cells. 21638519 2011
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 AlteredExpression disease BEFREE CBFβ expression was lower in HBV patients than in healthy persons, and the addition of serum from HBV patients inhibited CBFβ expression in HepG2 cells. 29523836 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 GeneticVariation disease BEFREE A common mutation in AML is the inversion of chromosome 16 [inv (16)], which generates a fusion between the genes for core binding factor beta (<i>CBFB)</i> and smooth muscle myosin heavy chain gene (<i>MYH11</i>), forming the oncogene <i>CBFB-MYH11</i>. 30814129 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.500 Biomarker disease BEFREE A fusion between the transcription factor core-binding factor beta (CBF beta; also known as PEBP2 beta) and the tail region of smooth muscle myosin heavy chain (SMMHC) is generated by an inversion of chromosome 16 [inv(16) (p13q22)] associated with the M4Eo subtype of acute myeloid leukemia. 7651416 1995
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation group BEFREE A total of nine well-defined chromosome aberrations with fusion gene transcripts were selected: t(1;19) with E2A-PBX1, t(4;11) with MLL-AF4, t(8;21) with AML1-ETO, t(9;22) with BCR-ABL p190 and BCR-ABL p210, t(12;21) with TEL-AML1, t(15;17) with PML-RARA, inv (16) with CBFB-MYH11, and microdeletion 1p32 with SIL-TAL1. 10602411 1999
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.550 Biomarker disease CTD_human A unique structural abnormality of chromosome 16 resulting in a CBF beta-MYH11 fusion transcript in a patient with acute myeloid leukemia, FAB M4. 10958941 2000
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation group BEFREE Acute myeloid leukemia patients with recurrent cytogenetic abnormalities including inv(16);CBFB-MYH11 and t(15;17);PML-RARA may be assessed by monitoring the levels of the corresponding abnormal fusion transcripts by quantitative reverse transcription-PCR (qRT-PCR). 26079545 2015
CUI: C0023418
Disease: leukemia
leukemia 		0.100 Biomarker disease BEFREE Although CBFB forms a core-binding factor transcriptional complex with RUNX1, previous analyses have excluded the CBFB gene as the leukemia-predisposing gene in these families. 15334552 2004
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.100 Biomarker disease BEFREE Although CBFB forms a core-binding factor transcriptional complex with RUNX1, previous analyses have excluded the CBFB gene as the leukemia-predisposing gene in these families. 15334552 2004