×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Colorectal Carcinoma
0.640
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
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
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
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
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
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
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
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
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
RUBINSTEIN-TAYBI SYNDROME 1
0.400
GeneticVariation
CLINVAR
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
RUBINSTEIN-TAYBI SYNDROME 1
0.400
CausalMutation
CLINVAR
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
leukemia
0.140
Biomarker
HPO
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Squamous cell carcinoma of lung
0.110
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Squamous cell carcinoma of the head and neck
0.110
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Autistic Disorder
0.110
Biomarker
HPO
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Ventricular Septal Defects
0.110
Biomarker
HPO
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Osteoarthritis of hip
0.100
GeneticVariation
GWASCAT
Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
30374069
2018
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Malformations of Cortical Development, Group II
0.100
GeneticVariation
CLINVAR
Comprehensive genomic analysis of patients with disorders of cerebral cortical development.
29706646
2018
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Multiple congenital anomalies
0.100
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
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
27964710
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Multiple congenital anomalies
0.100
CausalMutation
CLINVAR
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
27465822
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Multiple congenital anomalies
0.100
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
Uterine Cervical Neoplasm
0.100
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Medulloblastoma
0.100
GeneticVariation
CLINVAR
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
26619011
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Movement Disorders
0.100
GeneticVariation
CLINVAR
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
27465822
2016
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
Movement Disorders
0.100
GeneticVariation
CLINVAR
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
27964710
2016