EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
Disease: Congenital central hypoventilation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 Biomarker disease GENOMICS_ENGLAND Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. 9359047 1998
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 GeneticVariation disease ORPHANET Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 8696331 1996
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 Biomarker disease CTD_human Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome. 8696331 1996
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.600 Biomarker disease GENOMICS_ENGLAND