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ELN - elastin
- Synonym(s) : supravalvular aortic stenosis, SVAS, tropoelastin, WBS, Williams-Beuren syndrome, WS
- Previous symbols and names : _
- Type : gene with protein product
- Chromosomal location : 7q11.23
- OMIM: 130160
- HGNC: 3327
- UniProtKB: P15502
- Genatlas: ELN
- GenCC: ELN
- Ensembl: ENSG00000049540
- IUPHAR-DB: -
- Reactome: P15502
- LOVD: ELN
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant cutis laxa
ORPHA:90348 
- Disease-causing germline mutation(s) (loss of function) in Supravalvular aortic stenosis
ORPHA:3193 - Role in the phenotype of Williams syndrome
ORPHA:904 - Candidate gene tested in Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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