ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Congenital contracture ×
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: rs587777129
rs587777129 		1.000 2 232480203 missense variant A/G snv 7.0E-06
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2017 2017