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: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.050 Biomarker group BEFREE Elastosis perforans serpiginosa (EPS) is a rare skin disorder in which there is transepithelial elimination of elastin fibers. 29355938 2018
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.050 Biomarker group BEFREE The efficacy and safety of robed-siRNA for treating skin disease was confirmed by its ability to limit breakdown of elastin, a major cause of premature aging, following UVB exposure to human reconstructed skin tissue. 27612407 2016
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.050 Biomarker group BEFREE In addition to collagen and elastin cross-linkages, regulatory and activation mechanisms and cell type specific LOX interactions may contribute to a range of novel intra- and extracellular LOX functions that appear critical determinants of the cellular microenvironment in the normal skin and in these skin disorders. 16085123 2005
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.050 Biomarker group BEFREE Our study suggests that human macrophage metalloelastase may contribute to elastin degradation occurring in granulomatous skin diseases and may aid macrophage migration through the epidermal and vascular basement membranes in inflammatory disorders. 10201535 1999
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.050 GeneticVariation group BEFREE Heritable skin diseases with molecular defects in collagen or elastin. 3549080 1987