PCBP4, poly(rC) binding protein 4, 57060

N. diseases: 147; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.080 GeneticVariation disease BEFREE The gene for the human CREB binding protein, the transcriptional coactivator CBP, is included in the RT1 cosmid, and mutations in CBP have recently been identified in nondeleted RTS patients. 9677064 1998
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.100 Biomarker disease BEFREE Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism. 9949198 1999
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 Biomarker disease BEFREE These results provide further evidence for the multiple contribution of both MOZ and CBP genes in acute leukemias. 10469454 1999
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 AlteredExpression disease BEFREE An MLL gene rearrangement and MLL-CBP chimeric mRNA were found in AML, but not in ALL. 10679915 2000
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		0.050 GeneticVariation disease BEFREE MLL-CBP fusion transcript in a therapy-related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia. 10679915 2000
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.030 GeneticVariation disease BEFREE A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. 10679915 2000
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.030 GeneticVariation disease BEFREE MLL-CBP fusion transcript in a therapy-related acute myeloid leukemia with the t(11;16)(q23;p13) which developed in an acute lymphoblastic leukemia patient with Fanconi anemia. 10679915 2000
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 GeneticVariation disease BEFREE A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. 10679915 2000
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 GeneticVariation disease BEFREE A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. 10679915 2000
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 GeneticVariation disease BEFREE A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. 10679915 2000
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 GeneticVariation disease BEFREE A diagnosis of FA was confirmed by an increased number of chromosomal breaks and rearrangements in peripheral blood lymphocytes cultured with mitogen in the presence of mitomycin C. We conclude that this FA patient developed ALL followed by a therapy-related t(11;16)-AML resulting in an MLL-CBP fusion. 10679915 2000
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		0.010 AlteredExpression disease BEFREE The expression levels of ER-alpha, TIF2, and CBP were significantly higher in the intraductal carcinomas than those in the normal mammary glands. 10690532 2000
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.080 Biomarker disease BEFREE Here we report diagnostic analysis of CBP in 194 RTS patients, divided into several subsets. 10699051 2000
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.080 Biomarker disease BEFREE Here we report diagnostic analysis of CBP in 194 RTS patients, divided into several subsets. 10699051 2000
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.020 GeneticVariation disease BEFREE The MLL gene is fused with the cAMP-responsive element binding protein-binding protein (CBP) gene in t(11;16)(q23;p13), which has been reported to be associated with therapy-related acute leukemia. 10706136 2000
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE RT-PCR analysis of the MOZ-CBP and CBP-MOZ chimeric transcripts in acute myeloid leukemias with t(8;16)(p11;p13). 10862050 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.080 AlteredExpression disease BEFREE In the only t(8;16) that has been described at the sequence level using RT-PCR, the CBP-MOZ fusion was found to be out-of-frame, suggesting that the reciprocal MOZ-CBP transcript is the essential one for leukemogenesis. 10862050 2000
CUI: C3831784
Disease: Acute monocytic/monoblastic leukemia
Acute monocytic/monoblastic leukemia 		0.010 GeneticVariation disease BEFREE We have developed an RT-PCR strategy that enables us to detect the MOZ-CBP as well as the CBP-MOZ fusions in the two AML M5 with t(8;16)(p11;p13) analyzed. 10862050 2000
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.080 AlteredExpression disease BEFREE The transcriptional coactivators, CBP and p300, were found to be involved in leukemogenesis through translocations. 11071359 2000
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.010 Biomarker disease BEFREE Immortalization of T lymphocytes by human T-cell leukemia virus type 1 is independent of the tax-CBP/p300 interaction. 11090202 2000
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE Fusion of the MORF and CBP genes in acute myeloid leukemia with the t(10;16)(q22;p13). 11157802 2001
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		0.050 GeneticVariation disease BEFREE The CBP gene at 16p13 fuses to MOZ and MLL as a result of the t(8;16)(p11;p13) in acute (myelo)monocytic leukemias (AML M4/M5) and the t(11;16)(q23;p13) in treatment-related AML, respectively. 11157802 2001
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.030 GeneticVariation disease BEFREE The CBP gene at 16p13 fuses to MOZ and MLL as a result of the t(8;16)(p11;p13) in acute (myelo)monocytic leukemias (AML M4/M5) and the t(11;16)(q23;p13) in treatment-related AML, respectively. 11157802 2001
CUI: C0220621
Disease: Childhood Acute Myeloid Leukemia
Childhood Acute Myeloid Leukemia 		0.010 GeneticVariation disease BEFREE We show here that a novel t(10;16)(q22;p13) in a childhood AML M5a leads to a MORF-CBP chimera. 11157802 2001
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia 		0.010 GeneticVariation disease BEFREE We show here that a novel t(10;16)(q22;p13) in a childhood AML M5a leads to a MORF-CBP chimera. 11157802 2001