CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: OROFACIODIGITAL SYNDROME VI ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 11 29 0.010 None 1.000 1 2016 2016