EGF, epidermal growth factor, 1950

N. diseases: 774; N. variants: 33
Disease: Adams-Oliver syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551482
Disease: Adams-Oliver syndrome 1
Adams-Oliver syndrome 1 		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