Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
0.440 GeneticVariation disease BEFREE Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. 29631299 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.340 GeneticVariation disease BEFREE NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome. 29767458 2019
Entrez Id: 54567
Gene Symbol: DLL4
DLL4
0.440 GeneticVariation disease BEFREE Although loss-of-function variants in DLL4 are known to cause Adams-Oliver syndrome, this is the first report of a hypomorphic DLL4 allele as a cause of isolated CHD. 31813956 2020