ELN, elastin, 2006

N. diseases: 24; N. variants: 42
Disease: Congenital supravalvular aortic stenosis ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1305147
Disease: Congenital supravalvular aortic stenosis
Congenital supravalvular aortic stenosis 		0.310 GermlineCausalMutation disease ORPHANET Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. 19844261 2010
CUI: C1305147
Disease: Congenital supravalvular aortic stenosis
Congenital supravalvular aortic stenosis 		0.310 GermlineCausalMutation disease ORPHANET Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. 10942104 2000