Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RUBINSTEIN-TAYBI SYNDROME 2
CUI: C3150941
Disease: RUBINSTEIN-TAYBI SYNDROME 2
0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. 25712426 2015