CEP290, centrosomal protein 290, 80184

N. diseases: 196; N. variants: 100
Disease: Occipital Encephalocele ×
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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 33 9 0.100 None 0 3