Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100188340
Gene Symbol: AOS
AOS 		0.020 GeneticVariation disease BEFREE Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. 24668619 2014
Entrez Id: 1950
Gene Symbol: EGF
EGF 		0.010 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: 60
Gene Symbol: ACTB
ACTB 		0.010 Biomarker 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