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: C0009402
Disease: Colorectal Carcinoma
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
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

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1
0.400 GeneticVariation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C4551859
Disease: RUBINSTEIN-TAYBI SYNDROME 1
RUBINSTEIN-TAYBI SYNDROME 1
0.400 CausalMutation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0023418
Disease: leukemia
leukemia
0.140 Biomarker HPO

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0149782
Disease: Squamous cell carcinoma of lung
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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.110 Biomarker HPO

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.110 Biomarker HPO

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0029410
Disease: Osteoarthritis of hip
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C0007873
Disease: Uterine Cervical Neoplasm
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
CUI: C0025149
Disease: Medulloblastoma
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
CUI: C0026650
Disease: Movement Disorders
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
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
0.100 GeneticVariation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710

2016