Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.030 Biomarker group BEFREE The association with cardiac anomalies is a well-recognized feature, and SVAS is the most common cardiac defect found. 26918834 2016
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.030 GeneticVariation group BEFREE Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may account for the cardiac abnormalities seen in WS, but that mental retardation and hypercalcemia are likely caused by other genes flanking ELN. 9637430 1998
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.030 GeneticVariation group BEFREE Loss-of-function mutations in the elastin gene are known to cause the heart defect supravalvular aortic stenosis (SVAS). 9580666 1998