Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 Biomarker disease BEFREE We also show that complementation of CBP or p300 partially reversed RSTS cell sensitivity to DNA damage. 31504229 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 Biomarker disease BEFREE Here, we investigate mechanisms of CBP function during brain development in order to elucidate morphological and functional mechanisms underlying the development of RSTS. 31806049 2019
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. 29883886 2018
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 AlteredExpression disease BEFREE Loss of EP300/CBP activity in humans causes a very rare congenital disorder called Rubinstein Taybi Syndrome (RSTS). 29409755 2018
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 Biomarker disease BEFREE In fact, a role for CBP in higher cognitive function is suggested by the finding that RSTS is caused by heterozygous mutations at the CBP locus (Petrij et al., Nature 376:348-351, 1995). 28523540 2017
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE Mutations in the histone acetyltransferase CREB binding protein (CBP, CREBBP) cause Rubinstein-Taybi Syndrome (RTS), a developmental disorder that includes ASD-like symptoms. 26730956 2016
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE We discuss here a neurodevelopmental disorder, the Rubinstein-Taybi syndrome (RSTS), originated by mutations in the genes encoding the lysine acetyltransferases CBP and p300. 25410544 2014
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE Genomic aberrations in the CREBBP (CREB-binding protein - CREBBP or CBP) gene such as point mutations, small insertions or exonic copy number changes are usually associated with Rubinstein-Taybi syndrome (RTs). 23643710 2013
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, better known as CBP, the major cause of Rubinstein-Taybi syndrome [RTS]). 22265015 2012
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 AlteredExpression disease BEFREE Rubinstein-Taybi syndrome (RSTS) is a congenital neurodevelopmental disorder defined by postnatal growth deficiency, characteristic skeletal abnormalities and mental retardation and caused by mutations in the genes encoding for the transcriptional co-activators with intrinsic lysine acetyltransferase (KAT) activity CBP and p300. 21984751 2012
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CBP gene, whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome. 18688873 2008
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE RSTS is associated with chromosomal rearrangements and mutations in the CREB-binding protein gene (CREBBP), also termed CBP, encoding the CREB-binding protein. 17220215 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 Biomarker disease BEFREE Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. 15207239 2004
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome. 12566391 2003
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 GeneticVariation disease BEFREE Chromosomal translocations affecting the p300 and Cbp genes are the cause of hematological malignancies, and Cbp haploinsufficiency is a hallmark of the Rubinstein-Taybi syndrome. 11962765 2002
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
0.100 Biomarker disease BEFREE CBP is the causative gene of Rubinstein-Taybi syndrome (RTS). 11331617 2001
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