ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516433
rs397516433
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		G 0.700 CausalMutation CLINVAR Domains 16 and 17 of tropoelastin in elastic fibre formation. 17037986 2007
dbSNP: rs397516433
rs397516433
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		G 0.700 CausalMutation CLINVAR Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. 10190324 1999
dbSNP: rs397516433
rs397516433
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		G 0.700 CausalMutation CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997