ELN, elastin, 2006

N. diseases: 545; N. variants: 61
Disease: Vascular lesions ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.030 GeneticVariation disease BEFREE Vascular lesions in both syndromes are caused by haploinsufficiency of the elastin gene. 22891920 2012
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.030 Biomarker disease BEFREE Although the aetiology of Williams syndrome (WS) is related to elastin gene disruption, its pathogenesis remains unknown, particularly that of vascular lesions. 12095400 2002
CUI: C1402315
Disease: Vascular lesions
Vascular lesions 		0.030 Biomarker disease BEFREE The abnormal synthetic repertoire of these morphologically abnormal smooth muscle cells in early vascular lesions included elastin, among other matrix elements, and matrix metalloproteinase 9, a known mediator of elastolysis. 11139471 2001