ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
Disease: Aganglionosis, Rectosigmoid Colon ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1257840
Disease: Aganglionosis, Rectosigmoid Colon
Aganglionosis, Rectosigmoid Colon 		0.300 Biomarker disease CTD_human A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction. 9915973 1999