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: rs565779970
rs565779970
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C3150941
Disease:
RUBINSTEIN-TAYBI SYNDROME 2 		A 0.700 CausalMutation CLINVAR Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. 15706485 2005