EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: Congenital arteriovenous malformation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.020 Biomarker disease BEFREE Five aneurysm (3 ruptured, 2 unruptured) and 3 AVM (2 ruptured, 1 unruptured) ECs were tested for ET-1 release in the culture medium. 17016610 2006
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.020 Biomarker disease BEFREE Together, these results demonstrate that the ppET-1 gene is locally repressed in AVM lesions and suggest a role for abnormal ppET-1 gene regulation in the pathogenesis and clinical sequelae of cerebral AVMs. 8988087 1997