ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 Biomarker group BEFREE The following review will cover the cutting edge in vascular smooth muscle cell modeling of elastin-associated vasculopathy, and aid in the development of human disease modeling and drug screening approaches to identify potential treatments. 30460472 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 Biomarker group BEFREE Among the crosses, aortic elastin and collagen content did not correlate with quantitative vasculopathy traits. 22049077 2011
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 Biomarker group BEFREE Our studies have revealed that elastin is a primary player in maintaining vascular smooth muscle cells in their dormant state and thus may be a useful therapeutic in vascular disease. 15293807 2004
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 Biomarker group BEFREE Vascular disease in Williams-Beuren syndrome is based on an elastin arteriopathy which may cause stenoses in small and great vessels. 11760021 2001
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 GeneticVariation group BEFREE Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. 9215670 1997
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
0.060 GeneticVariation group BEFREE Because ELN mutations cause vascular disease but not cognitive abnormalities, these data implicate LIMK1 hemizygosity in imparied visuospatial constructive cognition. 8689688 1996