ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17855988
rs17855988
Entrez Id: 2006;107986809
Gene Symbol: ELN;ELN-AS1
ELN;ELN-AS1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3823878
rs3823878
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C4317009
Disease:
Diverticular Diseases 		A 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. 27866049 2017
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm. 27866049 2017
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 23442826 2013
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. 23442826 2013
dbSNP: rs34852121
rs34852121
Entrez Id: 2006;107986809
Gene Symbol: ELN;ELN-AS1
ELN;ELN-AS1
CUI: C0202236
Disease:
Triglycerides measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs34852121
rs34852121
Entrez Id: 2006;107986809
Gene Symbol: ELN;ELN-AS1
ELN;ELN-AS1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs863223518
rs863223518
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		C 0.700 GeneticVariation CLINVAR Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. 22740173 2012
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 21309044 2011
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 21309044 2011
dbSNP: rs794729201
rs794729201
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0268350
Disease:
Cutis Laxa, Autosomal Dominant 		G 0.700 GeneticVariation CLINVAR New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. 21309044 2011
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 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
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 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
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
dbSNP: rs794729201
rs794729201
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0268350
Disease:
Cutis Laxa, Autosomal Dominant 		G 0.700 GeneticVariation CLINVAR Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. 18348261 2008
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: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 15955094 2005
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. 15955094 2005
dbSNP: rs137854452
rs137854452
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		T 0.700 CausalMutation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
dbSNP: rs1554672602
rs1554672602
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0003499
Disease:
Supravalvular aortic stenosis 		AG 0.700 CausalMutation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 GeneticVariation CLINVAR Elastin: mutational spectrum in supravalvular aortic stenosis. 11175284 2000
dbSNP: rs1554680190
rs1554680190
Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay. 10942104 2000