EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937578
rs28937578
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT
dbSNP: rs28937578
rs28937578
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.800 CausalMutation CLINVAR
dbSNP: rs117018441
rs117018441
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0029410
Disease:
Osteoarthritis of hip 		0.710 GeneticVariation BEFREE In addition, using a recessive model, we confirm an association between hip osteoarthritis and a variant of CHADL<sup>1</sup> (rs117018441, P = 1.8 × 10<sup>-25</sup>, OR = 5.9). 30374069 2018
dbSNP: rs117018441
rs117018441
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0029410
Disease:
Osteoarthritis of hip 		T 0.710 GeneticVariation GWASCAT In addition, using a recessive model, we confirm an association between hip osteoarthritis and a variant of CHADL<sup>1</sup> (rs117018441, P = 1.8 × 10<sup>-25</sup>, OR = 5.9). 30374069 2018
dbSNP: rs5995992
rs5995992
Entrez Id: 2033;100302237
Gene Symbol: EP300;MIR1281
EP300;MIR1281
CUI: C1269683
Disease:
Major Depressive Disorder 		C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions. 30718901 2019
dbSNP: rs1210404526
rs1210404526
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C1837249
Disease:
Malformations of Cortical Development, Group II 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1210404526
rs1210404526
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 GeneticVariation CLINVAR Comprehensive genomic analysis of patients with disorders of cerebral cortical development. 29706646 2018
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0007873
Disease:
Uterine Cervical Neoplasm 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0152018
Disease:
Esophageal carcinoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0152018
Disease:
Esophageal carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0025149
Disease:
Medulloblastoma 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0007873
Disease:
Uterine Cervical Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0025149
Disease:
Medulloblastoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		A 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519889
rs1057519889
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1555905780
rs1555905780
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. 27465822 2016
dbSNP: rs1555905780
rs1555905780
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710 2016
dbSNP: rs1555905780
rs1555905780
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933 2016
dbSNP: rs1555905780
rs1555905780
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 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
dbSNP: rs1555907278
rs1555907278
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 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
dbSNP: rs1555907278
rs1555907278
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant. 27964710 2016