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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE Cleavage of mature skin elastin by matrix metalloproteinase-14 released a variety of bioactive elastin peptides, which indicates that the enzyme may play a role in the development and progression of cardiovascular diseases that go along with elastin breakdown. 31278967 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE Role of elastin peptides and elastin receptor complex in metabolic and cardiovascular diseases. 30946528 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE Our studies provide new information about how SMCs and ECs contribute elastin to the arterial wall and how local elastic laminae defects may contribute to cardiovascular disease. 31590613 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE We present mouse models of supravalvular aortic stenosis, autosomal dominant cutis laxa-1, and graded elastin amounts that have been invaluable for understanding the role of elastin in arterial mechanics and cardiovascular disease. 29631368 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE Vascular calcification is a risk predictor and common pathological change in cardiovascular diseases that are associated with elastin degradation and phenotypic transformation of vascular smooth muscle cells via gelatinase matrix metalloproteinase-2 (MMP2). 28164126 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 AlteredExpression group BEFREE Up-regulation of elastin and fibulin-5 mRNA levels in ICA were strongly correlated with family history of cardiovascular disease when compared to CCA (p<0.05). 25792650 2015
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE In network analysis of gene-gene or protein-protein interactions, we identified key drivers that included COL1A1, COL3A1, and ELN in the shared pathways for both CVD and T2D. 25371518 2014
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE Releases of the elastin cross-links desmosine (DES) and isodesmosine (IDE) may reflect elastin degradation in cardiovascular diseases. 21726534 2011
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.090 Biomarker group BEFREE The overlap of the clinical phenotypes of the two conditions (cardiovascular disease and connective tissue abnormalities such as hernias) is due to the effect of haploinsufficiency of ELN. 14556246 2003