ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Blepharoptosis ×
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: rs587776917
rs587776917 		0.776 0.200 2 232485937 stop gained -/T delins
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0