Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646

2018
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. 26486927

2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933

2016
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426

2015
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918

2014
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
RUBINSTEIN-TAYBI SYNDROME 2 		0.410 CausalMutation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485

2005