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: rs139310551
rs139310551
Entrez Id: 2033;101927279
Gene Symbol: EP300;EP300-AS1
EP300;EP300-AS1
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		T 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426 2015