EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Disease: Sturge-Weber Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome 		0.010 AlteredExpression disease BEFREE Local repression of ET-1 was specific to AVMs; ET-1 in vascular malformations of patients with Sturge-Weber disease was actually elevated compared to normal controls (p < 0.01). 8988087 1997