Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1 		endothelin converting enzyme like 1 0.638 0.308 4.8E-13
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.130 None 1.000 0 1 2013 2014