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: C4728147
Disease: Mid-dermal elastolysis
Mid-dermal elastolysis
0.030 AlteredExpression disease BEFREE Our present data suggest that decreased elastin renewal due to LOXL2 mutations and consecutive reduced LOXL2 expression contribute to the pathogenesis of MDE. 29845638 2019
CUI: C4728147
Disease: Mid-dermal elastolysis
Mid-dermal elastolysis
0.030 Biomarker disease BEFREE Mid-dermal elastolysis is an acquired skin condition affecting the elastin fibers of the dermis, resulting in laxity of the skin. 29683223 2018
CUI: C4728147
Disease: Mid-dermal elastolysis
Mid-dermal elastolysis
0.030 Biomarker disease BEFREE The results of this study confirm data of the previous investigations indicating that increased MMP-1 activity followed by elastin degradation seems to constitute the pathogenetic background of MDE. 20456556 2010