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: C0242225
Disease: Color blindness
Color blindness 		0.010 Biomarker disease BEFREE One of the normal families was segregating for protan colour blindness and showed a phase known recombination which would support the order centromere--F9--DXS52--CBP--Xqter. 2879932 1987
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Targeting the transcriptional cofactors (CBP, etc) by EWS-fusion proteins could be one of the mechanisms of activation of EWS-fusion proteins in human neoplasia. 8552387 1996
CUI: C0001486
Disease: Adenovirus Infections
Adenovirus Infections 		0.010 Biomarker group BEFREE Our results suggest that the p300/CBP-binding domain of E1A inhibits a p53-dependent cellular response which normally inhibits DNA replication following Adenovirus infection. 9070653 1997
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome 		0.010 GeneticVariation disease BEFREE The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. 9166831 1997
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 GeneticVariation group BEFREE The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. 9166831 1997
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 GeneticVariation disease BEFREE The t(11;16)(q23;p13) translocation in myelodysplastic syndrome fuses the MLL gene to the CBP gene. 9166831 1997
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE Intriguingly, mutations in the CBP gene are responsible for RTS as well as the t(8;16)-associated AML. 9177780 1997
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson syndrome 		0.080 GeneticVariation disease BEFREE Intriguingly, mutations in the CBP gene are responsible for RTS as well as the t(8;16)-associated AML. 9177780 1997
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.080 GeneticVariation disease BEFREE Intriguingly, mutations in the CBP gene are responsible for RTS as well as the t(8;16)-associated AML. 9177780 1997
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		0.050 Biomarker disease BEFREE The CBP gene was recently identified as a partner gene in the t(8;16) that occurs in acute myelomonocytic leukemia (AML-M4) de novo and rarely in treatment-related acute myeloid leukemia. 9226152 1997
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.030 Biomarker disease BEFREE The CBP gene was recently identified as a partner gene in the t(8;16) that occurs in acute myelomonocytic leukemia (AML-M4) de novo and rarely in treatment-related acute myeloid leukemia. 9226152 1997
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		0.010 Biomarker group BEFREE All patients with the T(11;16)(q23;p13.3) that involves MLL and CBP have treatment-related hematologic disorders. 9226152 1997
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		0.080 Biomarker disease BEFREE CBP is the first partner gene of MLL containing well defined structural and functional motifs that provide unique insights into the potential mechanisms by which these translocations contribute to leukemogenesis. 9238046 1997
CUI: C0023418
Disease: leukemia
leukemia 		0.070 Biomarker disease BEFREE Both fusion products retain the histone acetyltransferase domain of CBP and may lead to leukemia by promoting histone acetylation of genomic regions targeted by the MLL AT-hooks, leading to transcriptional deregulation via aberrant chromatin organization. 9238046 1997
CUI: C1336735
Disease: Treatment related acute myeloid leukaemia
Treatment related acute myeloid leukaemia 		0.050 GeneticVariation disease BEFREE MLL is fused to CBP, a histone acetyltransferase, in therapy-related acute myeloid leukemia with a t(11;16)(q23;p13.3). 9238046 1997
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.040 Biomarker disease BEFREE Both fusion products retain the histone acetyltransferase domain of CBP and may lead to leukemia by promoting histone acetylation of genomic regions targeted by the MLL AT-hooks, leading to transcriptional deregulation via aberrant chromatin organization. 9238046 1997
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE CBP and p300 have properties of tumor suppressor proteins; their interaction with P/CAF is disrupted by the adenoviral E1A oncoprotein, and the genes encoding CBP and p300 are mutated in human cancer. 9288775 1997
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE CBP and p300 have properties of tumor suppressor proteins; their interaction with P/CAF is disrupted by the adenoviral E1A oncoprotein, and the genes encoding CBP and p300 are mutated in human cancer. 9288775 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.100 Biomarker group BEFREE CBP and p300 have properties of tumor suppressor proteins; their interaction with P/CAF is disrupted by the adenoviral E1A oncoprotein, and the genes encoding CBP and p300 are mutated in human cancer. 9288775 1997
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE CBP, which is located on 16p13 and encodes a transcriptional adaptor/coactivator protein, has been shown to fuse by the t(8;16)(p11;p13) translocation to MOZ on 8p11 in acute myeloid leukemia. 9290955 1997
CUI: C0023418
Disease: leukemia
leukemia 		0.070 GeneticVariation disease BEFREE Because 11q23 translocations involving MLL and t(8;16) involving MOZ and CBP have been reported in therapy-related leukemias, both the MLL and CBP genes may be targets for topoisomerase II inhibitors. 9290955 1997
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic 		0.010 GeneticVariation disease BEFREE Novel MLL-CBP fusion transcript in therapy-related chronic myelomonocytic leukemia with a t(11;16)(q23;p13) chromosome translocation. 9290955 1997
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.010 GeneticVariation disease BEFREE Novel MLL-CBP fusion transcript in therapy-related chronic myelomonocytic leukemia with a t(11;16)(q23;p13) chromosome translocation. 9290955 1997
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease BEFREE Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). 9447825 1997
CUI: C0032339
Disease: Rothmund-Thomson syndrome
Rothmund-Thomson 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