Disease: COHEN-GIBSON SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
COHEN-GIBSON SYNDROME 		0.020 GeneticVariation disease BEFREE EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome. 30793471 2019
CUI: C4479654
Disease: COHEN-GIBSON SYNDROME
COHEN-GIBSON SYNDROME 		0.020 Biomarker disease BEFREE Constitutional pathogenic variants in its component proteins have been found to cause two established overgrowth syndromes: Weaver syndrome (EZH2-related overgrowth) and Cohen-Gibson syndrome (EED-related overgrowth).Imagawa et al. 31736240 2019