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 | ||||||
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C | 0.700 | GeneticVariation | CLINVAR | Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. | 22740173 | 2012 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Domains 16 and 17 of tropoelastin in elastic fibre formation. | 17037986 | 2007 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Elastin: mutational spectrum in supravalvular aortic stenosis. | 11175284 | 2000 | ||||||
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AG | 0.700 | CausalMutation | CLINVAR | Elastin: mutational spectrum in supravalvular aortic stenosis. | 11175284 | 2000 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Elastin: mutational spectrum in supravalvular aortic stenosis. | 11175284 | 2000 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Elastin: mutational spectrum in supravalvular aortic stenosis. | 11175284 | 2000 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. | 10190324 | 1999 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||||
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G | 0.700 | CausalMutation | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||||
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A | 0.700 | GeneticVariation | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis. | 9215671 | 1997 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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TC | 0.700 | CausalMutation | CLINVAR |