EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Rubinstein-Taybi Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. 19353645 2009
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in CREBBP and EP300 were identified in approximately 50% and 3% of RSTS patients, respectively. 19533794 2009
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE The patients with EP300 mutations displayed the typical facial gestalt and malformation pattern compatible with the diagnosis of RSTS. 17220215 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease LHGDN Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 17299436 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE Rubinstein-Taybi syndrome (RSTS) is a rare malformation disorder caused by mutations in the closely related CREBBP and EP300 genes, accounting respectively for up to 60 and 3% of cases. 17855048 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease LHGDN The patients with EP300 mutations displayed the typical facial gestalt and malformation pattern compatible with the diagnosis of RSTS. 17220215 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. 17299436 2007
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 GeneticVariation disease BEFREE Previous studies have identified cytogenetic deletions in the CREBBP gene in eight to 12% of patients and very recently, Roelfsema et al. reported EP300 gene mutations in three of 92 (3.3%) patients with either true RSTS or different syndromes resembling RSTS. 16021471 2005
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 Biomarker disease CTD_human
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND