Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa. 27339457 2016
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.020 GeneticVariation disease BEFREE Frameshift and missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis laxa (ARCL) 1B, characterized by loose skin, aortic aneurysm, arterial tortuosity, lung emphysema, and skeletal abnormalities. 26178373 2015