ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Congenital supravalvular aortic stenosis ×
Source: ALL
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 GeneticVariation disease BEFREE The underlying cause of congenital supravalvular aortic stenosis (SVAS) has recently been identified as a loss-of function mutation of the elastin gene on chromosome 7q11.23, resulting in an obstructive arteriopathy of varying severity, which is most prominent at the aortic sinutubular junction. 11167112 2001
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