| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | disease | CLINVAR | Haploinsufficiency of elastin gene may lead to familial cardiopathy and pulmonary emphysema. | 22740173 | 2012 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Domains 16 and 17 of tropoelastin in elastic fibre formation. | 17037986 | 2007 | ||||
|
0.800 | GeneticVariation | disease | CLINVAR | One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. | 11175284 | 2000 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | One hundred patients with diagnosed SVAS and normal karyotypes were screened for mutations in the elastin gene to further elucidate the molecular pathology of the disorder. | 11175284 | 2000 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts. | 10190324 | 1999 | ||||
|
0.800 | GeneticVariation | disease | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Deletions of all or large parts of the ELN gene have been previously reported in two patients with supravalvular aortic stenosis (SVAS), and SVAS is also a frequent feature of Williams syndrome, where patients are hemizygous for ELN. | 9215671 | 1997 | ||||
|
0.800 | CausalMutation | disease | CLINVAR | Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. | 9215670 | 1997 | ||||
|
0.800 | Biomarker | disease | HPO |