CREBBP, CREB binding protein, 1387

N. diseases: 31; N. variants: 120
Disease: RUBINSTEIN-TAYBI SYNDROME 1 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. 27311832 2016
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients. 25388907 2015
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation. 24616510 2014
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Inheritance and variable expression in Rubinstein-Taybi syndrome. 20684013 2010
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986 2008
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND Genotype-phenotype correlations in Rubinstein-Taybi syndrome. 18792986 2008
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4. 12930888 2003
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. 12070251 2002
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. 12114483 2002
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 GeneticVariation disease UNIPROT Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 11331617 2001
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome. 11331617 2001
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease CLINGEN Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. 9294190 1997
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1 		0.700 Biomarker disease GENOMICS_ENGLAND