EP300, E1A binding protein p300, 2033

N. diseases: 345; N. variants: 48
Disease: Congenital Abnormality ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764120087
rs764120087
Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C0000768
Disease:
Congenital Abnormality 		0.010 GeneticVariation BEFREE A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse. 22267179 2012