ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Exfoliation Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 AlteredExpression disease BEFREE Elastin level in aqH was elevated in PXF (p=0.01) and PXF-G (p=0.002). 30249767 2019
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 Biomarker disease BEFREE Exfoliation syndrome involves altered systemic extracellular matrix (ECM) homeostasis involving elastin metabolism. 30242396 2018
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 Biomarker disease BEFREE A common gene variant in the LOXL1 enzyme, an enzyme critical for enhancing the tensile strength of collagen and elastin in extracellular matrices, has been found in approximately 90% of XFS cases. 25594763 2015
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 Biomarker disease BEFREE Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. 25275910 2015
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 GeneticVariation disease BEFREE Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma. 20051886 2010
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 GeneticVariation disease BEFREE Recently, two non-synonymous polymorphisms (rs1048661 G>T and rs3825942 G>A) of lysyl oxidase-like protein 1 (LOXL1), a monoamine oxidase that catalyzes the polymerization of tropoelastin to elastin, were found to be associated with increased risk for XFS and exfoliation glaucoma (XFG). 18483563 2008
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 Biomarker disease BEFREE Our findings confirm genetic association of LOXL1 with XFG and XFS and implicate a potential role of cross linking of elastin in the pathogenesis of XFG. 18287813 2008
CUI: C0206368
Disease: Exfoliation Syndrome
Exfoliation Syndrome 		0.080 Biomarker disease BEFREE The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG. 17690259 2007