Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). 29501665 2018
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE To investigate the pathophysiology underlying a class of elastin gene mutations leading to autosomal dominant cutis laxa, we engineered a cutis laxa mutation (single base deletion) into the human elastin gene contained in a bacterial artificial chromosome. 22573328 2012
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease CLINVAR New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 21309044 2011
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE We sequenced exons 28-34 of the ELN gene in five probands with ADCL features and found five de novo heterozygous mutations: c.2296_2299dupGCAG (CL-1), c.2333delC (CL-2), c.2137delG (CL-3), c.2262delA (monozygotic twin CL-4 and CL-5), and c.2124del25 (CL-6). 21309044 2011
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE Heterozygous elastin gene mutations cause autosomal dominant cutis laxa associated with emphysema and aortic aneurysms. 20600892 2010
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GermlineCausalMutation disease ORPHANET Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GermlineCausalMutation disease ORPHANET Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. 16085695 2006
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE Mutations in the elastin coding gene have been shown to cause autosomal dominant cutis laxa in three families. 16691202 2006
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE This article is the fourth report of autosomal dominant cutis laxa to appear in the literature in which a mutation in the elastin gene has been correlated with the disease. 15381555 2004
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease BEFREE An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. 9580666 1998
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 GeneticVariation disease CLINVAR Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. 9215671 1997
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.670 Biomarker disease CTD_human