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: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1857779
Disease: SENIOR-LOKEN SYNDROME 6
SENIOR-LOKEN SYNDROME 6 		disease 0.700 None 1.000 0 12 2006 2018