ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3026906
rs3026906 		1.000 0.160 1 21220008 missense variant G/A snv 2.4E-04 4.0E-04
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0