Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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: 54567
Gene Symbol: DLL4
DLL4 		0.440 GeneticVariation disease BEFREE Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. 28839276 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		0.440 GeneticVariation disease BEFREE Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. 28446798 2017
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		0.440 GeneticVariation disease BEFREE Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 26299364 2015
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		0.440 GermlineCausalMutation disease ORPHANET Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 26299364 2015
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		0.440 GeneticVariation disease BEFREE DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 25824905 2015
Entrez Id: 54567
Gene Symbol: DLL4
DLL4 		0.440 CausalMutation disease CLINVAR Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 26299364 2015
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		0.440 GeneticVariation disease BEFREE Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. 25091416 2014
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		0.440 GeneticVariation disease BEFREE Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		0.440 GermlineCausalMutation disease ORPHANET Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 21820096 2011
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6 		0.440 GeneticVariation disease CLINVAR
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		0.420 Biomarker disease BEFREE Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. 25488668 2015
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		0.420 GermlineCausalMutation disease ORPHANET Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		0.420 GeneticVariation disease BEFREE Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 23522784 2013
Entrez Id: 285203
Gene Symbol: EOGT
EOGT 		0.420 GeneticVariation disease CLINVAR
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: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.340 Biomarker disease BEFREE Re-analysis of WES variants and combination of prenatal and postnatal phenotyping yielded pathogenic variants in at least 20% of cases including PORCN gene in a fetus with split-hand/foot malformation, as well as variants of uncertain significance in NEB and NOTCH1 in fetuses with postnatal muscle weakness and Adams-Oliver syndrome, respectively. 29392406 2018
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.340 Biomarker disease BEFREE Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.340 GermlineCausalMutation disease ORPHANET Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1 		0.340 GeneticVariation disease BEFREE Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		0.310 GeneticVariation disease BEFREE Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. 24668619 2014
Entrez Id: 57514
Gene Symbol: ARHGAP31
ARHGAP31 		0.310 GermlineCausalMutation disease ORPHANET Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. 21565291 2011
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ 		0.300 GermlineCausalMutation disease ORPHANET RBPJ mutations identified in two families affected by Adams-Oliver syndrome. 22883147 2012
Entrez Id: 100188340
Gene Symbol: AOS
AOS 		0.020 GeneticVariation disease BEFREE Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. 28446798 2017