EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: RUBINSTEIN-TAYBI SYNDROME 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037664
rs886037664
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		G 0.700 CausalMutation CLINVAR Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. 27648933 2016
dbSNP: rs886037664
rs886037664
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		G 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. 24352918 2014