ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Ehlers-Danlos Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 Biomarker disease BEFREE Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. 16278880 2005
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.020 Biomarker disease BEFREE The elastin gene is consistently deleted in Williams syndrome and as this protein represents the major component of the elastic fibers of the dermis, we sought to investigate skin elastic fibers in Williams syndrome as a key to unraveling extracellular matrix disorganization in this condition. 10533027 1999