ELN, elastin, 2006

N. diseases: 24; N. variants: 42
Disease: Cutis Laxa, Autosomal Dominant ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.670 GermlineCausalMutation disease ORPHANET Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.670 GermlineCausalMutation disease ORPHANET Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 16085695 2006
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant 		0.670 Biomarker disease CTD_human