ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Supravalvular aortic stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease HPO
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The association of supravalvar aortic stenosis and elastin gene mutations was further strengthened. 7787263 1995
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE To date, only the elastin gene has proved important for supravalvular aortic stenosis. 7788908 1995
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The relation between Marfan syndrome and fibrillin mutations and that between supravalvular aortic stenosis and William syndromes and elastin mutations are reviewed, as is the presence of microdeletions in 22q11 in DiGeorge syndrome, velocardiofacial syndrome, and nonsyndromic patients with conotruncal malformations. 7911041 1994
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The first disorders to involve mutations in the elastin gene itself are, surprisingly, cardiovascular and neurobehavioral disorders, such as supravalvular aortic stenosis and Williams syndrome. 7963685 1994
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS. 8096434 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease CTD_human Taken together with our previous study linking SVAS to the elastin gene in two additional families and existing knowledge of vascular biology, these data suggest that mutations in the elastin gene can cause SVAS. 8096434 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE These data indicate that mutations in the elastin gene cause SVAS and suggest that elastin exons 28-36 may encode critical domains for vascular development. 8132745 1994
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE We report on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVAS is the result of a mutation of elastin at 7q11.23 region. 8362925 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Based on our preliminary linkage data, the abnormal microscopic appearance of aortic elastic fibers in SVAS, and analogous animal and human diseases associated with elastic fiber and vascular abnormalities, there is indirect evidence suggesting elastin as a possible candidate gene for this disorder. 8364568 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE These findings indicate that a gene for supravalvular aortic stenosis is located in the same chromosomal subunit as elastin, which becomes a candidate for the disease gene. 8475063 1993
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Identification of elastin mutations in families with supravalvar aortic stenosis has enabled the identification of potentially large deletions that include one elastin allele in individuals with Williams syndrome. 8776022 1995
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE In the SVAS group, 1/7 (14%) had an elastin gene deletion, despite having normal development and minimal signs of WBS. 9004128 1996
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE The results support the usefulness of FISH for detection of ELN gene deletion as an initial diagnostic assay for patients with SVAS or Williams syndrome. 9071842 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE This report records our experience of FISH for elastin deletion in isolated SVAS and specifically reports a patient with non-Williams related SVAS, positive for the elastin deletion by FISH. 9138154 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE These data demonstrate that point mutations of ELN cause autosomal dominant SVAS. 9215670 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 CausalMutation disease CLINVAR Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease GENOMICS_ENGLAND Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. 9215671 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 CausalMutation disease CLINVAR Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. 9215671 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. 9215671 1997
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS). 9580666 1998
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 GeneticVariation disease BEFREE SVAS is the result of mutation or deletion of the elastin gene (ELN), located at chromosome 7q11.23. 9649945 1998
CUI: C0003499
Disease: Supravalvular aortic stenosis
Supravalvular aortic stenosis 		0.800 Biomarker disease BEFREE We have shown that hemizygosity of elastin is responsible for one feature of WS, supravalvular aortic stenosis (SVAS). 9860302 1998