Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. 27866049

2017
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261

2008
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284

2000
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. 8132745

1994