Gene: ELN ×
Source: INFERRED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 GeneticVariation disease CLINVAR Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. 27866049 2017
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 GeneticVariation disease CLINVAR Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 23442826 2013
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 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 		0.110 GeneticVariation disease CLINVAR An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism. 19194475 2009
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 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 		0.110 GeneticVariation disease CLINVAR Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 15955094 2005
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 GeneticVariation disease CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 GeneticVariation disease CLINVAR Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. 10942104 2000
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 GeneticVariation disease CLINVAR Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. 8132745 1994